Skip to main content
main-content

Zeitschrift

BMC Medical Genetics

BMC Medical Genetics 1/2018

Ausgabe 1/2018

Inhaltsverzeichnis ( 216 Artikel )

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Cardiac manifestations of PRKAG2 mutation

Pooya Banankhah, Gregory A. Fishbein, Anthony Dota, Reza Ardehali

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

HLA class I (-A, -B, -C) and class II (-DR, -DQ) polymorphism in the Mauritanian population

Cheikh Tijani Hamed, Ghlana Meiloud, Fatimetou Veten, Mouna Hadrami, Sidi M. Ghaber, Ely C. Boussaty, Norddine Habti, Ahmed Houmeida

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis

Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot, Paulo Caleb Junior Lima Santos

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Effect of GRM7 polymorphisms on the development of noise-induced hearing loss in Chinese Han workers: a nested case-control study

Peipei Yu, Jie Jiao, Guoshun Chen, Wenhui Zhou, Huanling Zhang, Hui Wu, Yanhong Li, Guizhen Gu, Yuxin Zheng, Yue Yu, Shanfa Yu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu

01.12.2018 | Correction | Ausgabe 1/2018 Open Access

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF

Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer, Detlev Schindler

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Bilateral giant retinal tears in Osteogenesis Imperfecta

Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Associations of the hypertension-related single nucleotide polymorphism rs11191548 with high-density lipoprotein cholesterol and leptin in Chinese children

Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu, Jie Mi

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A case of molecularly profiled extraneural medulloblastoma metastases in a child

Nahla Ali Mobark, Musa Al-Harbi, Othman Mosleh, Sandro Santagata, Matija Snuderl, Malak Abedalthagafi

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Establishing a genetic link between FTO and VDR gene polymorphisms and obesity in the Emirati population

Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman, Habiba Al Safar

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C. Southey

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The association between BDNF Val66Met polymorphism and emotional symptoms after mild traumatic brain injury

Yu-Jia Wang, Kai-Yun Chen, Li-Na Kuo, Wen-Chang Wang, Yu-Wen Hsu, Henry Sung-Ching Wong, Chien-Min Lin, Kuo-Hsing Liao, Yan-Feng Zhang, Yung-Hsiao Chiang, Wei-Chiao Chang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency

Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The Alu-insertion progesterone receptor gene polymorphism is not associated with breast cancer: a meta-analysis

Jun Yao, Xing-ling Qi, Yong Zhang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree

Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection

Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao, Weimin Zhou

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene

Deniss Sõritsa, Hindrek Teder, Retlav Roosipuu, Hannes Tamm, Triin Laisk-Podar, Pille Soplepmann, Alan Altraja, Andres Salumets, Maire Peters

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan, Sameer Phalke, Subhra Chaudhuri, Ravi Gupta, Jingli Zhang, Sam Santhosh, Jeremy Stinson, Zora Modrusan, V. L. Ramprasad, Somasekar Seshagiri, Andrew S. Peterson

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome

Worachart Lert-itthiporn, Bhoom Suktitipat, Harald Grove, Anavaj Sakuntabhai, Prida Malasit, Nattaya Tangthawornchaikul, Fumihiko Matsuda, Prapat Suriyaphol

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The impact of down-regulated SK3 expressions on Hirschsprung disease

Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar, Andi Dwihantoro

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby, Barry A. Chioza

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Identification of genetic variants for clinical management of familial colorectal tumors

Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population

Wei Hu, Yujia Ye, Yirui Yin, Peng Sang, Linhua Li, Jing Wang, Wen Wan, Rui Li, Xiangfeng Bai, Yuehui Xie, Zhaohui Meng

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Altered DNA methylation in liver and adipose tissues derived from individuals with obesity and type 2 diabetes

Francisco Barajas-Olmos, Federico Centeno-Cruz, Carlos Zerrweck, Iván Imaz-Rosshandler, Angélica Martínez-Hernández, Emilio J. Cordova, Claudia Rangel-Escareño, Faustino Gálvez, Armando Castillo, Hernán Maydón, Francisco Campos, Diana Gabriela Maldonado-Pintado, Lorena Orozco

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report

Shengjie Tian, Jianhua Zhu, Yaogang Lu

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li, Jing Liu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

Arrate Pereda, Intza Garin, Guiomar Perez de Nanclares, Spanish Network for Imprinting Disorders

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Involvement of polymorphisms of the nerve growth factor and its receptor encoding genes in the etiopathogenesis of ischemic stroke

Ani Stepanyan, Roksana Zakharyan, Arsen Simonyan, Gohar Tsakanova, Arsen Arakelyan

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

Nesreen K. Al-Jezawi, Aisha M. Al-Shamsi, Jehan Suleiman, Salma Ben-Salem, Anne John, Ranjit Vijayan, Bassam R. Ali, Lihadh Al-Gazali

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature

Ágnes Molnár, Attila Patócs, István Likó, Gábor Nyírő, Károly Rácz, Miklós Tóth, Beatrix Sármán

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Meta-analysis of association between TCF7L2 polymorphism rs7903146 and type 2 diabetes mellitus

Weiyue Ding, Li Xu, Lejun Zhang, Zhijie Han, Qinghua Jiang, Zhe Wang, Shuilin Jin

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Lack of genetic susceptibility in takotsubo cardiomyopathy: a case-control study

Emma Mattsson, Peter Saliba-Gustafsson, Ewa Ehrenborg, Per Tornvall

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family

Yingqi Shao, Sizhou Feng, Jinbo Huang, Jiali Huo, Yahong You, Yizhou Zheng

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

S100B polymorphisms are associated with age of onset of Parkinson’s disease

Camilla Fardell, Anna Zettergren, Caroline Ran, Andrea Carmine Belin, Agneta Ekman, Olof Sydow, Lars Bäckman, Björn Holmberg, Nil Dizdar, Peter Söderkvist, Hans Nissbrandt

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

UCP2 and UCP3 variants and gene-environment interaction associated with prediabetes and T2DM in a rural population: a case control study in China

Meifang Su, Xiaoying Chen, Yue Chen, Congyun Wang, Songtao Li, Xuhua Ying, Tian Xiao, Na Wang, Qingwu Jiang, Chaowei Fu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

HRG C633T polymorphism and risk of gestational hypertensive disorders: a pilot study

Evangelia Elenis, Alkistis Skalkidou, Agneta Skoog-Svanberg, Gunilla Sydsjö, Anneli Stavreus-Evers, Helena Åkerud

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report

E. C. Sattler, O. K. Steinlein

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant – a case report

Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M. Myklebust, Gunnar Houge, Thomas Arnesen

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

MiR-146a G/C rs2910164 variation in South African Indian and Caucasian patients with psoriatic arthritis

Ajesh B. Maharaj, Pragalathan Naidoo, Terisha Ghazi, Naeem S. Abdul, Shanel Dhani, Taskeen F. Docrat, Prithiksha Ramkaran, Paul-Peter Tak, Niek de Vries, Anil A. Chuturgoon

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report

Qiuli Liu, Dali Tong, Jing Xu, Xingxia Yang, Yuting Yi, Dianzheng Zhang, Luofu Wang, Jun Zhang, Yao Zhang, Yaoming Li, Lianpeng Chang, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis

Xi Wu, Qiulan Ding, Xuefeng Wang, Jing Dai, Wenman Wu

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family

Jinliang Li, Han Xie, Yuwu Jiang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association of polymorphism rs1053005 in STAT3 with chronic hepatitis B virus infection in Han Chinese population

Man Li, Fang Li, Na Li, Jiao Sang, Xiude Fan, Huan Deng, Xiaoge Zhang, Qunying Han, Yi Lv, Zhengwen Liu

01.12.2018 | Technical advance | Ausgabe 1/2018 Open Access

A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome

Michael D. Gregory, Bhaskar Kolachana, Yin Yao, Tiffany Nash, Dwight Dickinson, Daniel P. Eisenberg, Carolyn B. Mervis, Karen F. Berman

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China

Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu, Wenjuan Qiu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women

Paulo Roberto Xavier Tomaz, Juliana Rocha Santos, Jaqueline Scholz, Tânia Ogawa Abe, Patrícia Viviane Gaya, André Brooking Negrão, José Eduardo Krieger, Alexandre Costa Pereira, Paulo Caleb Júnior Lima Santos

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients

Koponen et al. Follow-up of adult LQTS patients
Mikael Koponen, Aki S. Havulinna, Annukka Marjamaa, Annukka M. Tuiskula, Veikko Salomaa, Päivi J. Laitinen-Forsblom, Kirsi Piippo, Lauri Toivonen, Kimmo Kontula, Matti Viitasalo, Heikki Swan

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-El-Mkadem, Konstantina Fragaki, Véronique Paquis-Flucklinger, Sylvie Bannwarth

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report

Rentao Yu, Yanzhi Guo, Yunjie Dan, Wenting Tan, Qing Mao, Guohong Deng

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association of IL10 and TGFB single nucleotide polymorphisms with intervertebral disc degeneration in Iranian population: a case control study

Sara Hanaei, Sina Abdollahzade, Maryam Sadr, Mohammad Hossein Mirbolouk, Alireza Khoshnevisan, Nima Rezaei

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan, Yongping Song

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson’s disease: a case report

Gang Liu, Dingyuan Ma, Jian Cheng, Jingjing Zhang, Chunyu Luo, Yun Sun, Ping Hu, Yuguo Wang, Tao Jiang, Zhengfeng Xu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood

Jasmine Khouja, Sarah J. Lewis, Carolina Bonilla

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review

Yanwei Sha, Liangkai Zheng, Zhiyong Ji, Libin Mei, Lu Ding, Shaobin Lin, Xu Wang, Xiaoyu Yang, Ping Li

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents

Osmar Henrique Della Torre, Lúcia Arisaka Paes, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Eloisa Helena Rubello Valler Celeri, Paulo Dalgalarrondo, Gil Guerra-Júnior, Amilton dos Santos-Júnior

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk

Zhiqing Wang, Shu Liu, Siping Liu, Yadong Wang, Junsheng Chen, Baoping Wu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association of APEX1 and OGG1 gene polymorphisms with breast cancer risk among Han women in the Gansu Province of China

Tao Wang, Haitao Wang, Suisheng Yang, Hongyun Guo, Binming Zhang, Huan Guo, Lan Wang, Gongjian Zhu, Yongdong Zhang, Haihong Zhou, Xiuli Zhang, Haining Li, Haixiang Su

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Effect of smoking on the association of HHEX (rs5015480) with diabetes among Korean women and heavy smoking men

Jae Woong Sull, Tae Yong Lee, Sun Ha Jee

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

Y. Watanabe, E. Sharwood, B. Goodwin, M. K. Creech, H. Y. Hassan, M. G. Netea, M. Jaeger, A. Dumitrescu, S. Refetoff, T. Huynh, R. E. Weiss

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report

Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu, Peiqiang Su

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy

Patricia S. Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark C. Gillies, Mark Daniell, Rohan W. Essex, John H. Chang, Stewart R. Lake, Bishwanath Pal, Alicia J. Jenkins, Alex W. Hewitt, Ecosse L. Lamoureux, Philip G. Hykin, Nikolai Petrovsky, Matthew A. Brown, Jamie E. Craig, Kathryn P. Burdon

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects

Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies

Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity

Hao Hu, Haiyan Li, Jieqiong Li, Jintai Yu, Lan Tan, Alzheimer’s Disease Neuroimaging Initiative

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A case of Raine syndrome presenting with facial dysmorphy and review of literature

Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal, Ma Pia Gallano

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Possible association between ABCC8 C49620T polymorphism and type 2 diabetes in a Nigerian population

Godwill Azeh Engwa, Friday Nweke Nwalo, Claribel Chidimma Chikezie, Christie Oby Onyia, Opeolu Oyejide Ojo, Wilfred Fon Mbacham, Benjamin Ewa Ubi

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

Dandan Xu, Chengjun Sun, Zeyi Zhou, Bingbing Wu, Lin Yang, Zhuo Chang, Miaoying Zhang, Li Xi, Ruoqian Cheng, Jinwen Ni, Feihong Luo

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl, May Christine V. Malicdan

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report

Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Exploration of the association between FOXE1 gene polymorphism and differentiated thyroid cancer: a meta-analysis

Yong-Hui Chen, Ying-Qiang Zhang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Analysis of the PvuII and XbaI polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study

José Maria Soares-Jr, Felisbela Soares de Holanda, Cézar Noboru Matsuzaki, Isabel Cristina Esposito Sorpreso, Eduardo Carvalho de Arruda Veiga, Luiz Carlos de Abreu, Kátia Cândido Carvalho, Edmund Chada Baracat

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage, Vajira H. W. Dissanayake

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report

Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi, Mohammad Ali Faghihi

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series

Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali, Jouni Uitto

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

Murat Durdu, Sara Missaglia, Laura Moro, Daniela Tavian

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon

Ossama K. Abou Hassan, Wiam Haidar, Georges Nemer, Hadi Skouri, Fadi Haddad, Imad BouAkl

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family

Feng Wang, Shiyi Xiong, Lin Wu, Maya Chopra, Xihong Hu, Bingbing Wu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome

Jiayan Fan, Yinwei Li, Renbing Jia, Xianqun Fan

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Chen

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Impact of KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2, and UBE2E2 on risk of developing type 2 diabetes in Thai population

Nattachet Plengvidhya, Chutima Chanprasert, Nalinee Chongjaroen, Pa-thai Yenchitsomanus, Mayuree Homsanit, Watip Tangjittipokin

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report

Joanna Zakrzewska-Koperska, Maria Franaszczyk, Zofia Bilińska, Grażyna Truszkowska, Małgorzata Karczmarz, Łukasz Szumowski, Tomasz Zieliński, Rafał Płoski, Maria Bilińska

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann, Junaid Gamieldien

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese

Masayuki Sakiyama, Hirotaka Matsuo, Hirofumi Nakaoka, Yusuke Kawamura, Makoto Kawaguchi, Toshihide Higashino, Akiyoshi Nakayama, Airi Akashi, Jun Ueyama, Takaaki Kondo, Kenji Wakai, Yutaka Sakurai, Ken Yamamoto, Hiroshi Ooyama, Nariyoshi Shinomiya

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells

Valérie-Anne Codina-Fauteux, Mélissa Beaudoin, Simon Lalonde, Ken Sin Lo, Guillaume Lettre

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A systematic review and meta-analyses of the relationship between glutathione S-transferase gene polymorphisms and renal cell carcinoma susceptibility

Zhiqing Zhong, Hongyan Li, Hongzhen Zhong, Tianbiao Zhou, Weiji Xie, Zhijun Lin

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing

Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung, Junjiang Fu

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower, Mary Ella Pierpont

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1

Bin Mao, Siyu Chen, Xin Chen, Xiumei Yu, Xiaojia Zhai, Tao Yang, Lulu Li, Zheng Wang, Xiuli Zhao, Xue Zhang

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

Jung-Eun Moon, Su-Jeong Lee, Cheol Woo Ko

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report

Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji, Masaomi Nangaku

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease

Nguyen Thi Mai Huong, Nguyen Thi Kim Lien, Ngo Diem Ngoc, Nguyen Thi Phuong Mai, Nguyen Pham Anh Hoa, Le Thanh Hai, Phan Van Chi, Ta Thanh Van, Tran Van Khanh, Nguyen Huy Hoang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India

Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen, C. R. Srikumari Srisailapathy

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A Chinese family affected by lynch syndrome caused by MLH1 mutation

Shuqin Jia, Meng Zhang, Yu Sun, Hai Yan, Fangping Zhao, Ziyu Li, Jiafu Ji

01.12.2018 | CASE REPORT | Ausgabe 1/2018 Open Access

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

Elena Buena-Atienza, Fadi Nasser, Susanne Kohl, Bernd Wissinger

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association of genetic polymorphisms in vascular endothelial growth factor with susceptibility to coronary artery disease: a meta–analysis

Wen-Qi Ma, Ying Wang, Xi-Qiong Han, Yi Zhu, Nai-Feng Liu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate, Frenny Sheth

01.12.2018 | Research Article | Ausgabe 1/2018 Open Access

Genome-wide association study of nocturnal blood pressure dipping in hypertensive patients

Jenni M. Rimpelä, Ilkka H. Pörsti, Antti Jula, Terho Lehtimäki, Teemu J. Niiranen, Lasse Oikarinen, Kimmo Porthan, Antti Tikkakoski, Juha Virolainen, Kimmo K. Kontula, Timo P. Hiltunen

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Zhiping Tan, Hui Zeng, Zhaofa Xu, Qi Tian, Xiaoyang Gao, Chuanman Zhou, Yu Zheng, Jian Wang, Guanghui Ling, Bing Wang, Yifeng Yang, Long Ma

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The effect of ERCC1 and ERCC2 gene polymorphysims on response to cisplatin based therapy in osteosarcoma patients

Hadeel Obiedat, Nasr Alrabadi, Eyad Sultan, Marwa Al Shatti, Malek Zihlif

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo Jr., Maria Judit Molnar, György Fekete

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

Yılmaz Kor, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer, Yufei Shi

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population

Yong Wang, Qiuming He, Ruizhong Zhang, Wei Zhong, Deli Zhu, Yan Zhang, Huimin Xia

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Fc receptor-like 3 (−169T>C) polymorphism increases the risk of tendinopathy in volleyball athletes: a case control study

José Inácio Salles, Lucas Rafael Lopes, Maria Eugenia Leite Duarte, Dylan Morrissey, Marilena Bezerra Martins, Daniel Escorsim Machado, João Antonio Matheus Guimarães, Jamila Alessandra Perini

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report

Xiong Wang, Lu Tan, Na Shen, Yanjun Lu, Ying Zhang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

Lu Zhou, Jiaqi Wang, Tailing Wang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal, University of Washington Center for Mendelian Genomics

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour, Mohammad Ali Faghihi

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7

Wen He, Gareth T. Young, Baohong Zhang, Peter J. Cox, Lily Ting-Yin Cho, Sally John, Sara A. Paciga, Linda S. Wood, Nicolas Danziger, Serena Scollen, Ciara Vangjeli

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association of Catechol-O-methyltransferase (COMT Val158Met) with future risk of cardiovascular disease in depressed individuals - a Swedish population-based cohort study

Aysha Almas, Yvonne Forsell, Vincent Millischer, Jette Möller, Catharina Lavebratt

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The polymorphism G894 T of endothelial nitric oxide synthase (eNOS) gene is associated with susceptibility to essential hypertension (EH) in Morocco

Sanaa Nassereddine, Hind Hassani Idrissi, Rachida Habbal, Rhizlane Abouelfath, Farah Korch, Majda Haraka, Adnane Karkar, Sellama Nadifi

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Cumulative evidence for relationships between multiple variants of HNF1B and the risk of prostate and endometrial cancers

Yu Tong, Yi Qu, Shiping Li, Fengyan Zhao, Yibin Wang, Dezhi Mu

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report

Angelica Bianco, Luigi Bisceglia, Maria Fara De Caro, Valeria Galeandro, Patrizia De Bonis, Apollonia Tullo, Stefano Zoccolella, Silvana Guerriero, Vittoria Petruzzella

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association study between a polymorphic poly-T repeat sequence in the promoter of the somatostatin gene and metabolic syndrome

Monique Tremblay, Diane Brisson, Daniel Gaudet

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report

Hye Sun Hyun, Seong Heon Kim, Eujin Park, Myung Hyun Cho, Hee Gyung Kang, Hyun Soon Lee, Noriko Miyake, Naomichi Matsumoto, Hiroyasu Tsukaguchi, Hae Il Cheong

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia

Xiao-dan Long, Jing Xiong, Zhao-hui Mo, Chang-sheng Dong, Ping Jin

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang, Shayan Wang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Genome-wide association study of lung function and clinical implication in heavy smokers

Xingnan Li, Victor E. Ortega, Elizabeth J. Ampleford, R. Graham Barr, Stephanie A. Christenson, Christopher B. Cooper, David Couper, Mark T. Dransfield, Mei Lan K. Han, Nadia N. Hansel, Eric A. Hoffman, Richard E. Kanner, Eric C. Kleerup, Fernando J. Martinez, Robert Paine III, Prescott G. Woodruff, Gregory A. Hawkins, Eugene R. Bleecker, Deborah A. Meyers, for the SPIROMICS Research Group

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

Max Drabkin, Ohad S. Birk, Ruth Birk

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association between H19 SNP rs217727 and lung cancer risk in a Chinese population: a case control study

Lingling Li, Genyan Guo, Haibo Zhang, Baosen Zhou, Lu Bai, He Chen, Yuxia Zhao, Ying Yan

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome

Huong Le Thi Thanh, Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong, Liem Nguyen Thanh

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Olga A. Shubina-Olejnik, Nina G. Danilenko, Alexander A. Bondar, Igor V. Morozov, Aisen V. Solovyev, Valeriia Yu. Danilchenko, Vladimir N. Maximov, Olga L. Posukh

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

Yan-gong Wang, Shu-ping Sun, Yi-ling Qiu, Qing-he Xing, Wei Lu

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome

Yu-Liang Jiang, Zi-Ye Zhao, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Hao Wang, En-Da Yu, Shu-Han Sun, Shou-Bin Ning

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review

Zhaowei Zhou, Lidan Ma, Juan Zhou, Zhijian Song, Jinmai Zhang, Ke Wang, Boyu Chen, Dun Pan, Zhiqiang Li, Changgui Li, Yongyong Shi

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant, Aurélia Poujois

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications

Markus W. Löffler, Julia Steinhilber, Franz J. Hilke, Sebastian P. Haen, Hans Bösmüller, Ivonne-Aidee Montes-Mojarro, Irina Bonzheim, Antje Stäbler, Ulrike Faust, Ute Grasshoff, Ingmar Königsrainer, Hans-Georg Rammensee, Lothar Kanz, Alfred Königsrainer, Stefan Beckert, Olaf Riess, Christopher Schroeder

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

The phenomena of balanced effect between α-globin gene and of β-globin gene

Liangying Zhong, Xin Gan, Lingling Xu, Chujia Liang, Yingjun Xie, Wenbin Lin, Peisong Chen, Min Liu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A complete linkage disequilibrium in a haplotype of three SNPs in Fat Mass and Obesity associated (FTO) gene was strongly associated with anthropometric indices after controlling for calorie intake and physical activity

Naser Kalantari, Nastaran Keshavarz Mohammadi, Pantea Izadi, Maryam Gholamalizadeh, Saeid Doaei, Hassan Eini-Zinab, Tuire Salonurmi, Shahram Rafieifar, Reza Janipoor, Ghasem Azizi Tabesh

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic

Marketa Safarikova, Jitka Stekrova, Eva Honsova, Vera Horinova, Vladimir Tesar, Jana Reiterova

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation

Yubi Lin, Jiana Huang, Siqi He, Ruiling Feng, ZhiAn Zhong, Yang Liu, Weitao Ye, Xin Li, Hongtao Liao, Hongwen Fei, Fang Rao, Zhixin Shan, Chunyu Deng, Xianzhang Zhan, Yumei Xue, Hui Liu, Bin Zhang, Kejian Wang, Qianhuan Zhang, Shulin Wu, Xiufang Lin

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Preliminary study showing no association between G238A (rs361525) tumor necrosis factor-α (TNF-α) gene polymorphism and its serum level, hormonal and biochemical aspects of polycystic ovary syndrome

Fahimeh Kordestani, Sahar Mazloomi, Yousef Mortazavi, Saeideh Mazloomzadeh, Mojtaba Fathi, Haleh Rahmanpour, Abolfazl Nazarian

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Novel mutations in HSF4 cause congenital cataracts in Chinese families

Zongfu Cao, Yihua Zhu, Lijuan Liu, Shuangqing Wu, Bing Liu, Jianfu Zhuang, Yi Tong, Xiaole Chen, Yongqing Xie, Kaimei Nie, Cailing Lu, Xu Ma, Juhua Yang

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report

Kye Hee Cho, Sung Han Shim, Youngsoo Jung, Se Ra Sung, MinYoung Kim

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A variant in KCNQ1 gene predicts metabolic syndrome among northern urban Han Chinese women

Yafei Liu, Chunxia Wang, Yafei Chen, Zhongshang Yuan, Tao Yu, Wenchao Zhang, Fang Tang, Jianhua Gu, Qinqin Xu, Xiaotong Chi, Lijie Ding, Fuzhong Xue, Chengqi Zhang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

Shuang Hu, Shiyue Mei, Ning Liu, Xiangdong Kong

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen, B. Paus

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Common FTO rs9939609 variant and risk of type 2 diabetes in Palestine

Anas Sabarneh, Suheir Ereqat, Stéphane Cauchi, Omar AbuShamma, Mohammad Abdelhafez, Murad Ibrahim, Abdelmajeed Nasereddin

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang, Pu Dai

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

Mohammad M. Al-Qattan, Ali Hadadi, Abdullah M. Al-Thunayan, Ahmed A. Eldali, Mohammed A. AlBalwi

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population

Arati Suvatha, M. K. Sibin, Dhananjaya I. Bhat, K. V. L. Narasingarao, Vikas Vazhayil, G. K. Chetan

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane, Eliane Chouery

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report

Chi-Chun Ho, Lilian Li-Yan Tsung, Kam-Tim Liu, Wing-Tat Poon

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report

Xiong Wang, Ning Tang, Wei Chang, Yanjun Lu, Dengju Li

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Three cases of multicentric carpotarsal osteolysis syndrome: a case series

Peong Gang Park, Kee Hyuck Kim, Hye Sun Hyun, Chan Hee Lee, Jin-Su Park, Jeong Hae Kie, Young Hun Choi, Kyung Chul Moon, Hae Il Cheong

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Genetically determined high activities of the TNF-alpha, IL23/IL17, and NFkB pathways were associated with increased risk of ankylosing spondylitis

Jacob Sode, Steffen Bank, Ulla Vogel, Paal Skytt Andersen, Signe Bek Sørensen, Anders Bo Bojesen, Malene Rohr Andersen, Ivan Brandslund, Ram Benny Dessau, Hans Jürgen Hoffmann, Bente Glintborg, Merete Lund Hetland, Henning Locht, Niels Henrik Heegaard, Vibeke Andersen

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study

Mayuko Ito, Haruki Nishizawa, Makiko Tsutsumi, Asuka Kato, Yoshiko Sakabe, Yoshiteru Noda, Akiko Ohwaki, Jun Miyazaki, Takema Kato, Kazuya Shiogama, Takao Sekiya, Hiroki Kurahashi, Takuma Fujii

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Notch polymorphisms associated with sensitivity of noise induced hearing loss among Chinese textile factory workers

Enmin Ding, Jing Liu, Huanxi Shen, Wei Gong, Hengdong Zhang, Haiyan Song, Baoli Zhu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis

Xin Huang, Weiyue Zhang, Zengwu Shao

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population

Xiaoming Chen, Zhuoqing Hu, Meilian Liu, Huaqian Li, Chanbo Liang, Wei Li, Liwen Bao, Manyang Chen, Ge Wu

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

Shouyan Zheng, Wei Liao

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

The estrogen receptor 1 gene affects bone mineral density and osteoporosis treatment efficiency in Slovak postmenopausal women

Vladimira Mondockova, Maria Adamkovicova, Martina Lukacova, Birgit Grosskopf, Ramona Babosova, Drahomir Galbavy, Monika Martiniakova, Radoslav Omelka

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Muscle-specific regulation of right ventricular transcriptional responses to chronic hypoxia-induced hypertrophy by the muscle ring finger-1 (MuRF1) ubiquitin ligase in mice

Robert H. Oakley, Matthew J. Campen, Michael L. Paffett, Xin Chen, Zhongjing Wang, Traci L. Parry, Carolyn Hillhouse, John A. Cidlowski, Monte S. Willis

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan, Dale Muzzey

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma, Zhiliang Yang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke, Frenny Sheth

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

Shan Li, Yi You, Jinsong Gao, Bin Mao, Yixuan Cao, Xiuli Zhao, Xue Zhang

01.12.2018 | Correspondence | Ausgabe 1/2018 Open Access

Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”

Edina Poletto, Ursula Matte, Guilherme Baldo

01.12.2018 | Technical advance | Ausgabe 1/2018 Open Access

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

Bhavi P. Modi, Hardik I. Parikh, Maria E. Teves, Rewa Kulkarni, Jiang Liyu, Roberto Romero, Timothy P. York, Jerome F. Strauss III

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene

Ming Gao, Bin Zhu, Zhe Xu, Shujun Liu, Jiajia Liu, Guojun Zhang, Yang Gao, Yubo Fan, Xixiong Kang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner, Ola H Skjeldal

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Response to olaparib in metastatic castration-resistant prostate cancer with germline BRCA2 mutation: a case report

Yi Ma, Lijie He, Qianwen Huang, Shuang Zheng, Zhiqiang Zhang, Hongshi Li, Shuang Liu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction

Wen-Bin He, Wen-Juan Xiao, Yue-Qiu Tan, Xiao-Meng Zhao, Wen Li, Qian-Jun Zhang, Chang-Gao Zhong, Xiu-Rong Li, Liang Hu, Guang-Xiu Lu, Ge Lin, Juan Du

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

An African perspective on the genetic risk of chronic kidney disease: a systematic review

Cindy George, Yandiswa Y Yako, Ikechi G Okpechi, Tandi E Matsha, Francois J. Kaze Folefack, Andre P Kengne

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam

Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan, Hoai-Nghia Nguyen

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Do polymorphisms in protein kinase catalytic subunit alpha-1 gene associated with cancer susceptibility? a meta-analysis and systematic review

Jialin Meng, Xinyao Fan, Meng Zhang, Zongyao Hao, Chaozhao Liang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family

Zixun Song, Nuo Si, Wei Xiao

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao, Yongxin Wen

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report

Chun-Chun Hu, Yun-Jun Sun, Chun-xue Liu, Bing-rui Zhou, Chun-yang Li, Qiong Xu, Xiu Xu

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

ENHO, RXRA, and LXRA polymorphisms and dyslipidaemia, related comorbidities and survival in haemodialysis patients

Alicja E. Grzegorzewska, Leszek Niepolski, Monika K. Świderska, Adrianna Mostowska, Ireneusz Stolarek, Wojciech Warchoł, Marek Figlerowicz, Paweł P. Jagodziński

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar, David Keegan

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

Chrystal F. Mavros, Catherine A. Brownstein, Roshni Thyagrajan, Casie A. Genetti, Sahil Tembulkar, Kelsey Graber, Quinn Murphy, Kristin Cabral, Grace E. VanNoy, Matthew Bainbridge, Jiahai Shi, Pankaj B. Agrawal, Alan H. Beggs, Eugene D’Angelo, Joseph Gonzalez-Heydrich

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report

Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity

Robina Khan Niazi, Anette P Gjesing, Mette Hollensted, Christian Theil Have, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Wasim Ahmad, Asma Gul, Torben Hansen

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari, Anil Vasudevan

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Relationship between transforming growth factor-β1 and type 2 diabetic nephropathy risk in Chinese population

Tianbiao Zhou, Hong-Yan Li, Hongzhen Zhong, Zhiqing Zhong

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study

Shahanas Chathoth, Mona H. Ismail, Chittibabu Vatte, Cyril Cyrus, Zhara Al Ali, Khandaker Ahtesham Ahmed, Sadananda Acharya, Aisha Mohammed Al Barqi, Amein Al Ali

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang, Houbin Huang

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia

Erfan Aref-Eshghi, Oliver Hurley, Guang Sun, Alvin Simms, Marshall Godwin, Pauline Duke, Mehdee Araee, Masoud Mahdavian, Shabnam Asghari

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Zhimei Guo, Fang Liu, Hai Jun Li

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study

Mette Hollensted, Claus T. Ekstrøm, Oluf Pedersen, Hans Eiberg, Torben Hansen, Anette Prior Gjesing

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a

Fangqi He, Hongfeng Wang, Xiaoyu Zhang, Qingping Gao, Feng Guo, Chang Chen

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

Katsuyuki Yokoi, Yoko Nakajima, Hidehito Inagaki, Makiko Tsutsumi, Tetsuya Ito, Hiroki Kurahashi

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report

Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li, Xuejun Li

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel

Lulu Yang, Chenhui Zhang, Wei Wang, Junqi Wang, Yuan Xiao, Wenli Lu, Xiaoyu Ma, Lifen Chen, Jihong Ni, Defen Wang, Jinxiu Shi, Zhiya Dong

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Association of glucocorticoid receptor gene polymorphism and occupational stress with hypertension in desert petroleum workers in Xinjiang, China

Ning Tao, Hua Ge, Wenfeng Wu, Hengqing An, Jiwen Liu, Xinjuan Xu

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study

Umile Giuseppe Longo, Katia Margiotti, Stefano Petrillo, Giacomo Rizzello, Caterina Fusilli, Nicola Maffulli, Alessandro De Luca, Vincenzo Denaro

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection

Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao, Weimin Zhou

01.12.2018 | Research article | Ausgabe 1/2018 Open Access

Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease

Chi Zhou, Jin Huang, Guanglin Cui, Hesong Zeng, Dao Wen Wang, Qiang Zhou

Aktuelle Ausgaben