Ausgabe 1/2018
Inhalt (216 Artikel)
Cardiac manifestations of PRKAG2 mutation
Pooya Banankhah, Gregory A. Fishbein, Anthony Dota, Reza Ardehali
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
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
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
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
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
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
Bilateral giant retinal tears in Osteogenesis Imperfecta
Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile
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
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
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
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
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
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
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
The Alu-insertion progesterone receptor gene polymorphism is not associated with breast cancer: a meta-analysis
Jun Yao, Xing-ling Qi, Yong Zhang
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
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
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
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
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
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
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
The impact of down-regulated SK3 expressions on Hirschsprung disease
Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar, Andi Dwihantoro
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
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
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
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
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
Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report
Shengjie Tian, Jianhua Zhu, Yaogang Lu
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
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
Arrate Pereda, Intza Garin, E. Anda, S. Berrade, M. A. Ramos-Arroyo, R. Rodríguez Erdozain, A. Vicente, R. Rodriguez-Lopez, A. Moreno, M. Guitart, R. Oancea-Ionescu, O. Perez Rodriguez, S. Molinos Castro, E. Meriño, J. L. Salvador-Sanchis, P. López Mondejar, M. Zapico, E. Palomo, P. Rozas Moreno, F. Aleixandre-Blanquer, J. Argente Oliver, G. Martos, J. Pozo, O. Rubio-Cabezas, L. Bilbao Gasso, G. Marti, L. Martorell, R. Cardona, L. Suarez, S. Zambudio Sert, M. Obon, A. Sanchis Calvo, F. Moreno Macian, J. Cruz-Rojo, L. Garzon Lorenzo, J. Sanchez del Pozo, I. Riaño, M. Lahera Vargas, F. Blanco-Kelly, M. I. Lorda Sanchez, L. Soriano Guillen, S. Tahsin Swafiri, A. Azriel, B. Lecumberri, J. C. Moreno, V. Garcia Nieto, J. Garcia Diaz, R. Marin Iglesias, M. Martin Fuentes, A. Casteras, M. Clemente Leon, M. Ballesta-Martinez, M. J. Sanchez Soler, A. Gonzalez Meneses, J. Lopez Lopez, M. J. Garcia Barcina, B. Gener, I. Llano, M. Bonet Alcaina, Guiomar Perez de Nanclares
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
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
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
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
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
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
Lack of genetic susceptibility in takotsubo cardiomyopathy: a case-control study
Emma Mattsson, Peter Saliba-Gustafsson, Ewa Ehrenborg, Per Tornvall
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
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
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
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
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
Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report
E. C. Sattler, O. K. Steinlein
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
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
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
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
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
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
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
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
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
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
Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 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
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
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
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
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
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
Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood
Jasmine Khouja, Sarah J. Lewis, Carolina Bonilla
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
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
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
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
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
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
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
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
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
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
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
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
Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity
Hao Hu, Haiyan Li, Jieqiong Li, Jintai Yu, Lan Tan
A case of Raine syndrome presenting with facial dysmorphy and review of literature
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
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
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
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
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
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
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
Exploration of the association between FOXE1 gene polymorphism and differentiated thyroid cancer: a meta-analysis
Yong-Hui Chen, Ying-Qiang Zhang
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
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
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
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
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
Murat Durdu, Sara Missaglia, Laura Moro, Daniela Tavian
Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon
Ossama K. Abou Hassan, Wiam Haidar, Georges Nemer, Hadi Skouri, Fadi Haddad, Imad BouAkl
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
An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome
Jiayan Fan, Yinwei Li, Renbing Jia, Xianqun Fan
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
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
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
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
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
PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells
Valérie-Anne Codina-Fauteux, Mélissa Beaudoin, Simon Lalonde, Ken Sin Lo, Guillaume Lettre
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
Lu Zhou, Jiaqi Wang, Tailing Wang
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Marcus Annable, Elizabeth E. Blue, Kati J. Buckingham, Imen Chakchouk, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo Jr, Colleen P. Davis, Christopher Frazar, Martha Horike-Pyne, Gail P. Jarvik, Eric Johanson, Ashley N. Kang, Tom Kolar, Stephanie A. Krauter, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Karynne Patterson, Sam W. Phillips, Jessica Pijoan, Matthew A. Richardson, Peggy D. Robertson, Isabelle Schrauwen, Krystal Slattery, Kathryn M. Shively, Joshua D. Smith, Monica Tackett, Alice E. Tattersall, Marc Wegener, Jeffrey M. Weiss, Marsha M. Wheeler, Qian Yi, Di Zhang, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal
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
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
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
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
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
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
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
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
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
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
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
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, Neil E. Alexis, Wayne H. Anderson, R. Graham Barr, Eugene R. Bleecker, Richard C. Boucher, Russell P. Bowler, Elizabeth E. Carretta, Stephanie A. Christenson, Alejandro P. Comellas, Christopher B. Cooper, David J. Couper, Gerard J. Criner, Ronald G. Crystal, Jeffrey L. Curtis, Claire M. Doerschuk, Mark T. Dransfield, Christine M. Freeman, Mei Lan K. Han, Nadia N. Hansel, Annette T. Hastie, Eric A. Hoffman, Robert J. Kaner, Richard E. Kanner, Eric C. Kleerup, Jerry A. Krishnan, Lisa M. LaVange, Stephen C. Lazarus, Fernando J. Martinez, Deborah A. Meyers, John D. Newell Jr, Elizabeth C. Oelsner, Wanda K. O’Neal, Robert Paine III, Nirupama Putcha, Stephen I. Rennard, Donald P. Tashkin, Mary Beth Scholand, J. Michael Wells, Robert A. Wise, Prescott G. Woodruff
Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred
Max Drabkin, Ohad S. Birk, Ruth Birk
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report
Xiong Wang, Ning Tang, Wei Chang, Yanjun Lu, Dengju Li
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
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
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
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
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
Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis
Xin Huang, Weiyue Zhang, Zengwu Shao
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
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
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
Shouyan Zheng, Wei Liao
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
Zixun Song, Nuo Si, Wei Xiao
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
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
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
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
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
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
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
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
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
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
Relationship between transforming growth factor-β1 and type 2 diabetic nephropathy risk in Chinese population
Tianbiao Zhou, Hong-Yan Li, Hongzhen Zhong, Zhiqing Zhong
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
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
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
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
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
Zhimei Guo, Fang Liu, Hai Jun Li
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
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
Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a
Fangqi He, Hongfeng Wang, Xiaoyu Zhang, Qingping Gao, Feng Guo, Chang Chen
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
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
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
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
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
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
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