Ausgabe 1/2019
Inhalt (197 Artikel)
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag
Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study
Nadir A. Ahmed, Ishag Adam, Salah Eldin G. Elzaki, Hiba A. Awooda, Hamdan Z. Hamdan
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism
Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome
Michele Salemi, Rossella Cannarella, Rosita A. Condorelli, Laura Cimino, Federico Ridolfo, Giorgio Giurato, Corrado Romano, Sandro La Vignera, Aldo E. Calogero
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
Junjue Chen, Yan Wei, Linlu Tian, Xiaoli Kang
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations
Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles, Felix Claverie-Martin
Polymorphism in the EREG gene confers susceptibility to tuberculosis
Wen Cao, Liu-lin Luo, Wei-wei Chen, Li Liang, Ran-ran Zhang, Yan-lin Zhao, Jin Chen, Jun Yue
Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review
Junling Fu, Yiting Zhao, Tong Wang, Qian Zhang, Xinhua Xiao
Modeling gene-environment interactions in longitudinal family studies: a comparison of methods and their application to the association between the IGF pathway and childhood obesity
Cheng Wang, Marie-Hélène Roy-Gagnon, Jean-François Lefebvre, Kelly M. Burkett, Lise Dubois
Polymorphisms in IL36G gene are associated with plaque psoriasis
Tanel Traks, Maris Keermann, Ele Prans, Maire Karelson, Ulvi Loite, Gea Kõks, Helgi Silm, Sulev Kõks, Külli Kingo
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy
Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan, Qiuju Wang
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report
Mohammad M. Al-Qattan, Abdulaziz Jarman, Atif Rafique, Zuhair N. Al-Hassnan, Heba M. Al-Qattan
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report
Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang, Shuyang Zhang
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia
Ceren Saygı, Yasemin Alanay, Uğur Sezerman, Aslı Yenenler, Nesrin Özören
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi
Association between the insulin-like growth factor 1 gene rs2195239 and rs2162679 polymorphisms and cancer risk: a meta-analysis
Gui-Ping Xu, Wei-Xian Chen, Qing Zhao, Hua Zhou, Shi-Zhi Chen, Li-Fang Wu
Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease
Ting Ge, Xinyue Zhang, Yongmei Xiao, Yizhong Wang, Ting Zhang
The role of MMP-12 gene polymorphism − 82 A-to-G (rs2276109) in immunopathology of COPD in polish patients: a case control study
Iwona Gilowska, Edyta Majorczyk, Łukasz Kasper, Katarzyna Bogacz, Jan Szczegielniak, Marta Kasper, Jacek Kaczmarski, Aleksandra Skomudek, Marcin Czerwinski, Krzysztof Sładek
Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population
Yuming Bai, Shijun Gao, Ying Liu, Shengli Jin, Haisen Zhang, Ke Su
Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa
Nontokozo D. Matume, Denis M. Tebit, Laurie R. Gray, Stephen D. Turner, David Rekosh, Pascal O. Bessong, Marie-Louise Hammarskjöld
Glutathione S-transferase pi 1 variant and squamous cell carcinoma susceptibility: a meta-analysis of 52 case-control studies
Shuang Wang, Jingqi Zhang, Fan Jun, Zhijie Bai
A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options
Myrto Moutafi, Dimitrios C. Ziogas, Spyros Michopoulos, Tina Bagratuni, Vassiliki Vasileiou, Laura Verga, Giampaolo Merlini, Giovanni Palladini, Charis Matsouka, Meletios A. Dimopoulos, Efstathios Kastritis
Association study between KIR polymorphisms and rheumatoid arthritis disease: an updated meta-analysis
Hamideh Aghaei, Shayan Mostafaei, Saeed Aslani, Ahmadreza Jamshidi, Mahdi Mahmoudi
Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group
Shengchun Liu, Mingxing Wu, Bianwen Zhang, Xiaojing Xiong, Hao Wang, Xiyuan Zhou
Association between polymorphisms in the GRIN1 gene 5′ regulatory region and schizophrenia in a northern Han Chinese population and haplotype effects on protein expression in vitro
Yong-ping Liu, Mei Ding, Xi-cen Zhang, Yi Liu, Jin-feng Xuan, Jia-xin Xing, Xi Xia, Jun Yao, Bao-jie Wang
Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families
Claire L. Simpson, Anthony M. Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y. Cordero, Jennifer B. Cordero, Bilal A. Moiz, Emily R. Holzinger, Candace D. Middlebrooks, Deyana D. Lewis, Joan E. Bailey-Wilson, Dwight Stambolian
ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis
Zhi-liang Zhao, Lu Xia, Cong Zhao, Jun Yao
TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study
Hui Gao, Zeren Niu, Zhi Zhang, Hongjiao Wu, Yuning Xie, Zhenbang Yang, Ang Li, Zhenxian Jia, Xuemei Zhang
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
Na Shen, Ting Wang, Delei Li, Aiguo Liu, Yanjun Lu
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth
Association of vitamin D receptor gene variants with polycystic ovary syndrome: a meta-analysis
Xiao-Yuan Shi, Ai-Ping Huang, Duo-Wen Xie, Xiao-Long Yu
A functional variant alters binding of activating protein 1 regulating expression of FGF7 gene associated with chronic obstructive pulmonary disease
Xiaomei Zhang, Yongxin Guo, Jing Yang, Jianlou Niu, Lina Du, Haiyan Li, Xiaokun Li
Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report
Lingshuang Sheng, Wei Zhang, Jia Gu, Kefeng Shen, Hui Luo, Yang Yang
The association between interleukin-6 gene -174G/C single nucleotide polymorphism and sepsis: an updated meta-analysis with trial sequential analysis
Yao Chen, Yanyan Hu, Zhenju Song
Association of a placental Interleukin-6 genetic variant (rs1800796) with DNA methylation, gene expression and risk of acute chorioamnionitis
Chaini Konwar, Giulia F. Del Gobbo, Jefferson Terry, Wendy P. Robinson
HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia
Flora Cimmino, Marianna Avitabile, Vito Alessandro Lasorsa, Annalaura Montella, Lucia Pezone, Sueva Cantalupo, Feliciano Visconte, Maria Valeria Corrias, Achille Iolascon, Mario Capasso
A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia
Haixia Zhang, Bingwu Xiang, Hui Chen, Xiang Chen, Tao Cai
Effects of early- and mid-life stress on DNA methylation of genes associated with subclinical cardiovascular disease and cognitive impairment: a systematic review
Elena M. Vidrascu, Alexander C. Bashore, Timothy D. Howard, Justin B. Moore
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
Naihong Yan, Lirong Xiao, Chen Hou, Bo Guo, Wei Fan, Yingping Deng, Ke Ma
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract
Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang, Yi Lu
A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family
Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu, Qizhu Wu
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus
N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek Jr, E. K. Ginter, R. A. Zinchenko
An immunocompetent patient with a nonsense mutation in NHEJ1 gene
Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei, Mohammad Ali Faghihi
Meta-analysis of associations of vascular endothelial growth factor protein levels and -634G/C polymorphism with systemic lupus erythematosus susceptibility
Wenzhuang Tang, Tianbiao Zhou, Zhiqing Zhong, Hongzhen Zhong
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat, Yair Anikster
Weighted correlation network and differential expression analyses identify candidate genes associated with BRAF gene in melanoma
Bin Zhao, Yanqiu You, Zheng Wan, Yunhan Ma, Yani Huo, Hongyi Liu, Yuanyuan Zhou, Wei Quan, Weibin Chen, Xiaohong Zhang, Fujun Li, Yilin Zhao
Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study
Xin Liao, Tong Zhang, Bingyang Li, Shimin Hu, Junyu Liu, Jing Deng, Hongzhuan Tan, Junxia Yan
A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review
Junling Fu, Tong Wang, Xinhua Xiao
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
Gi-Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung-Tae Lee, Jinsei Jung
A cis-eQTL allele regulating reduced expression of CHI3L1 is associated with late-onset adult asthma in Japanese cohorts
Jun Kanazawa, Haruna Kitazawa, Hironori Masuko, Yohei Yatagai, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Emiko Noguchi, Satoshi Konno, Masaharu Nishimura, Tomomitsu Hirota, Mayumi Tamari, Nobuyuki Hizawa
Association between KIF1B rs17401966 genetic polymorphism and hepatocellular carcinoma susceptibility: an updated meta-analysis
Ying-ying Luo, Hong-peng Zhang, Ai-long Huang, Jie-li Hu
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)
Malena P. Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos, Dimitrios Degiannis
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology
Eileen S. Hwang, Denise J. Morgan, Katie L. Pennington, Leah A. Owen, John H. Fingert, Paul S. Bernstein, Margaret M. DeAngelis
GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
Daniela Palheiro Mendes-de-Almeida, Francianne Gomes Andrade, Gustavo Borges, Filipe V. dos Santos-Bueno, Iracema F. Vieira, Luana Kelly M. da S. da Rocha, Daniella A. Mendes-da-Cruz, Rosely M. Zancopé-Oliveira, Rodrigo T. Calado, Maria S. Pombo-de-Oliveira
Functional characterization of two enhancers located downstream FOXP2
Raúl Torres-Ruiz, Antonio Benítez-Burraco, Marta Martínez-Lage, Sandra Rodríguez-Perales, Paloma García-Bellido
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova
MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years
Tomoyuki Momma, Kenji Gonda, Yoshinori Akama, Eisei Endo, Daisuke Ujiie, Shotaro Fujita, Yuko Maejima, Shoichiro Horita, Kenju Shimomura, Shigehira Saji, Koji Kono, Rei Yashima, Fumiaki Watanabe, Kokichi Sugano, Tadashi Nomizu
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin, Terry-Lynn Young
Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts
Rachel M. Jones, Phillip E. Melton, Mark Pinese, Alexander J. Rea, Evan Ingley, Mandy L. Ballinger, David J. Wood, David M. Thomas, Eric K. Moses
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases
Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong-Seok Lim, Jong Hoon Park, Mi Hyun Song, Hae Ryong Song, Ok-Hwa Kim, Yonghwan Kim, Tae-Joon Cho
A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome
Xiaoyi Yan, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo, Fan Jin
Intronic polymorphisms in genes LRFN2 (rs2494938) and DNAH11 (rs2285947) are prognostic indicators of esophageal squamous cell carcinoma
Jiru Wang, Qiuzi Wang, Bin Wei, Yu Zhou, Zhaoye Qian, Yong Gao, Xiaofei Chen
Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer
Jean Pascal Demba Diop, Rokhaya Ndiaye Diallo, Violaine Bourdon-Huguenin, Ahmadou Dem, Doudou Diouf, Mamadou Moustapha Dieng, Seydi Abdoul Ba, Yacouba Dia, Sidy Ka, Babacar Mbengue, Alassane Thiam, Oumar Faye, Papa Amadou Diop, Hagay Sobol, Alioune Dieye
Molecular analysis of a large novel deletion causing α+-thalassemia
Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang
BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature
Mir Ali, Celia Dawn Delozier, Uzair Chaudhary
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin
Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang, Jingmin Wang
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype
Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu
A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report
Jean Mamelona, Louisa Filice, Youcef Oussedik, Nicolas Crapoulet, Rodney J. Ouellette, Alier Marrero
Associations between XRCC3 Thr241Met polymorphisms and breast cancer risk: systematic-review and meta-analysis of 55 case-control studies
Sepideh Dashti, Zahra Taherian-Esfahani, Abbasali Keshtkar, Soudeh Ghafouri-Fard
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
Huifang Yan, Zhen Shi, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Ming Li, Kai Gao, Yinyin Chen, Xiaoping Yang, Haoran Ji, Binbin Cao, Ruoyu Duan, Yuwu Jiang, Jingmin Wang
The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age
Yinan Ma, Xing Wei, Hong Pan, Songtao Wang, Xin Wang, Xiaowei Liu, Liying Zou, Xiaomei Wang, Xiaorong Wang, Hua Yang, Fengying Wang, Kefang Wang, Lifang Sun, Xiaolin Qiao, Yue Yang, Xiuhua Ma, Dandan Liu, Guifeng Ding, Junqi Ma, Xiuli Yang, Sainan Zhu, Yu Qi, Chenghong Yin
The VDR gene FokI polymorphism is associated with gestational diabetes mellitus in Turkish women
Mahmut Apaydın, Selvihan Beysel, Nilnur Eyerci, Ferda Alparslan Pinarli, Mustafa Ulubay, Muhammed Kizilgul, Ozhan Ozdemir, Mustafa Caliskan, Erman Cakal
Genetic relationship between IL-10 gene polymorphisms and the risk of clinical atopic dermatitis
Yuqing Qi, Jie Kong, Jinyan He
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant, Daniela Gasperikova
A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report
Wenying Wang, Rentao Yu, Wenting Tan, Yunjie Dan, Guohong Deng, Jie Xia
Gene spectrum analysis of thalassemia for people residing in northern China
Zhuo Yang, Wenzhe Zhou, Quexuan Cui, Ling Qiu, Bing Han
Association of NTCP polymorphisms with clinical outcome of hepatitis B infection in Thai individuals
Natthaya Chuaypen, Nongnaput Tuyapala, Nutcha Pinjaroen, Sunchai Payungporn, Pisit Tangkijvanich
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency
Ping Wang, Fengying Cai, Lirong Cao, Yizheng Wang, Qianqian Zou, Peng Zhao, Chao Wang, Yuqin Zhang, Chunquan Cai, Jianbo Shu
Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka
Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Nambage Dona Priyani Dhammika Chandrasiri, Eresha Jasinge
Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes
Hongwei Shen, Hui Huang, Kaizhong Luo, Yan Yi, Xiaoliu Shi
The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA
James Jiqi Wang, Bo Yu, Zongzhe Li
Assessment of risk based on variant pathways and establishment of an artificial neural network model of thyroid cancer
Yinlong Zhao, Lingzhi Zhao, Tiezhu Mao, Lili Zhong
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants
Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang, Wenhao Zhou
Genetic impact of methylenetetrahydrofolate reductase (MTHFR) polymorphism on the susceptibility to colorectal polyps: a meta-analysis
Manyi Sun, Jin Zhong, Li Zhang, Songli Shi
Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations
Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent, Cyrus Boelman
Interpreting the MicroRNA-15/107 family: interaction identification by combining network based and experiment supported approach
Si Wang, Wenhua Zhu, Jing Xu, Yuanxu Guo, Jidong Yan, Liesu Meng, Congshan Jiang, Shemin Lu
Association of a genetic variant in the angiopoietin-like protein 4 gene with metabolic syndrome
Sara Kharazmi-Khorassani, Jasmin Kharazmi-Khorassani, Azam Rastegar-Moghadam, Sara Samadi, Hamideh Ghazizadeh, Maryam Tayefi, Gordon A. Ferns, Majid Ghayour-Mobarhan, Amir Avan, Habibollah Esmaily
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez
Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females
Sokanha Kong, Yoon Shin Cho
Lack of association between methylenetetrahydrofolate reductase C677T polymorphism, HPV infection and cervical intraepithelial neoplasia in Brazilian women
Nayara Nascimento Toledo Silva, Adriano de Paula Sabino, Alexandre Tafuri, Angélica Alves Lima
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly
Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, Sally Ann Lynch, Thomas Arnesen
Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms
Javier E. Anaya-Ayala, Susana Hernandez-Doño, Monica Escamilla-Tilch, Jose Marquez-Garcia, Kemberly Hernandez-Sotelo, Rodrigo Lozano-Corona, Daniela Ruiz-Gomez, Julio Granados, Carlos A. Hinojosa
A novel risk score system for assessment of ovarian cancer based on co-expression network analysis and expression level of five lncRNAs
Qian Zhao, Conghong Fan
Using literature-based discovery to identify candidate genes for the interaction between myocardial infarction and depression
Zhenguo Dai, Qian Li, Guang Yang, Yini Wang, Yang Liu, Zhilei Zheng, Yingfeng Tu, Shuang Yang, Bo Yu
A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan, Jingming Shi
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations
Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan
Association of KCNJ11 rs5219 gene polymorphism with type 2 diabetes mellitus in a population of Syria: a case-control study
Osama Makhzoom, Younes Kabalan, Faizeh AL-Quobaili
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake
The association between apolipoprotein E and gallstone disease: an updated meta-analysis
Lizhuo Li, Xin Qiao, Xia Wang, Di Liu, Qingmu Xue, Lu Han, Fei Dai, Guomin Ma, Zhipeng Yang, Tao Zhang, Shuo Yang, Shikang Cai, Mingyue Gao, Jingyun Yang
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review
Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis
Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li, Li Wang
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez, M. L. Couce
Relationship between TGF-β1 + 869 T/C and + 915 G/C gene polymorphism and risk of acute rejection in renal transplantation recipients
Hong-Yan Li, Tianbiao Zhou, Shujun Lin, Wenshan Lin
DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan
Lika’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa, Yusuke Okuno
Rapid, low cost and sensitive detection of Calreticulin mutations by a PCR based amplicon length differentiation assay for diagnosis of myeloproliferative neoplasms
Ngo Tat Trung, Dao Thanh Quyen, Nghiem Xuan Hoan, Dao Phuong Giang, Tran Thi Huyen Trang, Thirumalaisamy P. Velavan, Mai Hong Bang, Le Huu Song
Effect of prematurity on genome wide methylation in the placenta
Jessica Schuster, Alper Uzun, Joan Stablia, Christoph Schorl, Mari Mori, James F. Padbury
Overexpression of MicroRNA-148b-3p stimulates osteogenesis of human bone marrow-derived mesenchymal stem cells: the role of MicroRNA-148b-3p in osteogenesis
Samaneh Mollazadeh, Bibi Sedigheh Fazly Bazzaz, Vajiheh Neshati, Antoine A. F. de Vries, Hojjat Naderi-Meshkin, Majid Mojarad, Mahdi Mirahmadi, Zeinab Neshati, Mohammad Amin Kerachian
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega, Anas M. Alazami
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
Xiaodong Shi, Xiaolan Huang, Yu Zhang, Xiaodai Cui
Interaction between mitochondrial NADH dehydrogenase subunit-2 5178 C > A and clinical risk factors on the susceptibility of essential hypertension in Chinese population
Xi Chen, Xiang-Yu He, Chao Zhu, Yusong Zhang, Zongbin Li, Yuqi Liu, Yuxiao Zhang, Tong Yin, Yang Li
A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report
Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat, Nader Shakibazad
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova
Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu, Li Sun
Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency
Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack Jr, Joannah Kim, Christopher L. Sanders
New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report
Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada, Gen Nishimura
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report
Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
A multivariable approach for risk markers from pooled molecular data with only partial overlap
Anne-Sophie Stelzer, Livia Maccioni, Aslihan Gerhold-Ay, Karin E. Smedby, Martin Schumacher, Alexandra Nieters, Harald Binder
Weak association between the interleukin-8 rs4073 polymorphism and acute pancreatitis: a cumulative meta-analysis
Yening Li, Jing Bai, Bing He, Nan Wang, Haoran Wang, Dongliang Liu
Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor, George Nasioulas
Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report
Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski, Mirosław Wielgoś
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family
Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu, Xiong Wang
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype
Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang, Ruen Yao
Rapid detection of PAH gene mutations in Chinese people
Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai, Ling-Li Wang
Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia
Ani Melani Maskoen, Lelani Reniarti, Edhyana Sahiratmadja, Joice Sisca, Sjarif Hidajat Effendi
A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report
Binlu Zhu, Hong Jiang, Meiling Cao, Xueqi Zhao, Hongkun Jiang
Novel reference genes in colorectal cancer identify a distinct subset of high stage tumors and their associated histologically normal colonic tissues
Lai Xu, Helen Luo, Rong Wang, Wells W. Wu, Je-Nie Phue, Rong-Fong Shen, Hartmut Juhl, Leihong Wu, Wei-lun Alterovitz, Vahan Simonyan, Lorraine Pelosof, Amy S. Rosenberg
Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy
Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang, Lingrong Kong
Genetic variation in interleukin-7 is associated with a reduced erythropoietic response in Kenyan children infected with Plasmodium falciparum
Lily E. Kisia, Prakasha Kempaiah, Samuel B. Anyona, Elly O. Munde, Angela O. Achieng, John M. Ong’echa, Christophe G. Lambert, Kiprotich Chelimo, Collins Ouma, Douglas J. Perkins , Evans Raballah
Association of hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism with renal cell carcinoma and prostate cancer susceptibility: a meta-analysis
Hong-Yan Li, Tianbiao Zhou, Wenshan Lin, Shujun Lin, Hongzhen Zhong
Relationship between the rs2596542 polymorphism in the MICA gene promoter and HBV/HCV infection-induced hepatocellular carcinoma: a meta-analysis
Xiaojun Luo, Yu Wang, Ai Shen, Hejun Deng, Min Ye
Autoimmune Polyglandular Syndrome Type 1: a case report
Sayed Mahmoud Sajjadi-Jazi, Akbar Soltani, Samaneh Enayati, Armita Kakavand Hamidi, Mahsa M. Amoli
MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia
Asma A. Batarfi, Najlaa Filimban, Osama S. Bajouh, Ashraf Dallol, Adeel G. Chaudhary, Sherin Bakhashab
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka, Asma Gul
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report
Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan, Hossein Fahimi
Association of CYP gene polymorphisms with breast cancer risk and prognostic factors in the Jordanian population
Laith N. AL-Eitan, Doaa M. Rababa’h, Mansour A. Alghamdi, Rame H. Khasawneh
Genetic basis of rotator cuff injury: a systematic review
Umile Giuseppe Longo, Vincenzo Candela, Alessandra Berton, Giuseppe Salvatore, Andrea Guarnieri, Joseph DeAngelis, Ara Nazarian, Vincenzo Denaro
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort
Hosneara Akter, Nasima Sultana, Nazrana Martuza, Aaysha Siddiqua, Nushrat Jahan Dity, Md. Atikur Rahaman, Bisan Samara, Ahmed Sayeed, Mohammed Basiruzzaman, Mohammad Mizanur Rahman, Md. Rashidul Hoq, Md. Robed Amin, Md. Abdul Baqui, Marc Woodbury-Smith, K. M. Furkan Uddin, Syed S. Islam, Rayhana Awwal, Bakhrom K. Berdiev, Mohammed Uddin
Genetic polymorphism in DGCR8 is associated with late onset of preeclampsia
Xin Huang, Zuodong Li, Jun Lei, Dapeng Wang, Yujing Zhang
Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report
Robina Khan Niazi, Anette Prior Gjesing, Mette Hollensted, Christian Theil Have, Dmitrii Borisevich, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Ifrah Shafqat, Asma Gul, Torben Hansen
The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts
Dan Li, Qinghe Jing, Yongxiang Jiang
BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center
Chantal Farra, Christelle Dagher, Lama Hamadeh, Nagi El Saghir, Deborah Mukherji
Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke
Yuan Wu, Junjie Zhao, Yonglin Zhao, Tingqin Huang, Xudong Ma, Honggang Pang, Ming Zhang
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report
Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang, Wansheng Chen
Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1
Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan, Renbing Jia
IKZF1 genetic variants rs4132601 and rs11978267 and acute lymphoblastic leukemia risk in Tunisian children: a case-control study
Sana Mahjoub, Vera Chayeb, Hedia Zitouni, Rabeb M. Ghali, Haifa Regaieg, Wassim Y. Almawi, Touhami Mahjoub
Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria
Oladele Simeon Olatunya, Dulcineia Martins Albuquerque, Ganiyu Olusola Akanbi, Olufunso Simisola Aduayi, Adekunle Bamidele Taiwo, Opeyemi Ayodeji Faboya, Tolorunju Segun Kayode, Daniela Pinheiro Leonardo, Adekunle Adekile, Fernando Ferreira Costa
Pooling analysis regarding the impact of human vitamin D receptor variants on the odds of psoriasis
Juan Li, Li Sun, Jinghui Sun, Min Yan
MMP-8 C-799 T, Lys460Thr, and Lys87Glu variants are not related to risk of cancer
Li-Feng Zhang, Li-Jie Zhu, Wei Zhang, Wei Yuan, Ning-Hong Song, Li Zuo, Yuan-Yuan Mi, Zeng-Jun Wang, Wei Zhang
MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study
Feriha Fatima Khidri, Yar Muhammad Waryah, Faiza Kamran Ali, Hina Shaikh, Ikram Din Ujjan, Ali Muhammad Waryah
Decoding of novel missense TSC2 gene variants using in-silico methods
Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury
A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report
Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen, Linsheng Zhao
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series
Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
Associations of BAFF rs2893321 polymorphisms with myasthenia gravis susceptibility
Hui Deng, Jianjian Wang, Xiaotong Kong, Huixue Zhang, Tianfeng Wang, Wenqi Tian, Tingting Yi, Lihua Wang
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling
Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan, Ya-Li Li
Association of high sensitive C-reactive protein with coronary heart disease: a Mendelian randomization study
Qian Zhuang, Chong Shen, Yanchun Chen, Xianghai Zhao, Pengfei Wei, Junxiang Sun, Yanni Ji, Xiaotian Chen, Song Yang
Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population
Suhail Razak, Nousheen Bibi, Javid Ahmad Dar, Tayyaba Afsar, Ali Almajwal, Zahida Parveen, Sarwat Jahan
A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result
Dan Li, Yun Wang, Nan Zhao, Liang Chang, Ping Liu, Chan Tian, Jie Qiao
Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China
Weirong Jin, Qiuwang Zhang, Bei Wang, Lili Pan, Hongyou Qin, Daying Yang, Xiangqun Zhou, Yongcai Du, Ling Lin, Michael J. Kutryk
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report
Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai
Copy number variation is highly correlated with differential gene expression: a pan-cancer study
Xin Shao, Ning Lv, Jie Liao, Jinbo Long, Rui Xue, Ni Ai, Donghang Xu, Xiaohui Fan
Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension
Ossama K. Abou Hassan, Wiam Haidar, Mariam Arabi, Hadi Skouri, Fadi Bitar, Georges Nemer, Imad Bou Akl
Association of PD-1 polymorphisms with the risk and prognosis of lung adenocarcinoma in the northeastern Chinese Han population
Kun Huang, Erqiang Hu, Wan Li, Junjie Lv, Yuehan He, Gui Deng, Jinling Xiao, Chengcheng Yang, Xinyu Zhao, Lina Chen, Xinyan Wang
Influence of oxytocin receptor single nucleotide sequence variants on contractility of human myometrium: an in vitro functional study
F. Füeg, S. Santos, C. Haslinger, B. Stoiber, L. Schäffer, E. Grünblatt, R. Zimmermann, A. P. Simões-Wüst
Genetic polymorphisms associated with sleep-related phenotypes; relationships with individual nocturnal symptoms of insomnia in the HUNT study
Daniela Bragantini, Børge Sivertsen, Philip Gehrman, Stian Lydersen, Ismail Cüneyt Güzey
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center
Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu, Zhengfeng Xu
Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders
Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He, Huaiyu Gu
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao, Bao-Ping Xu
Increased risk of aspirin-induced gastric mucosal erosion in elderly Chinese men harboring SLCO1B1*1b/*1b while using aspirin and an ACEI or ARB concomitantly
Lei Duan, Yongyi Bai, Man Li, Huiying Li, Yanping Li, Hongbin Liu
Prevalence of CCR5delta32 in Northeastern Iran
Amir Tajbakhsh, Mostafa Fazeli, Mehdi Rezaee, Faezeh Ghasemi, Mastoureh Momen Heravi, Aida Gholoobi, Zahra Meshkat
SIRT1 (rs3740051) role in pituitary adenoma development
Rasa Liutkeviciene, Alvita Vilkeviciute, Greta Morkunaite, Brigita Glebauskiene, Loresa Kriauciuniene
Association between lncRNA H19 rs217727 polymorphism and the risk of cancer: an updated meta-analysis
Xue Wang, Jialing Zhong, Fang Chen, Kang Hu, Suhong Sun, Yuanxiu Leng, Xumei Chen, Fengjiao Gan, Yana Pan, Qing Luo
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up
Jaehui Ryu, Jung Min Ko, Choong-Ho Shin
Effects of factor v Leiden polymorphism on the pathogenesis and outcomes of preeclampsia
G. K. Ababio, K. Adu-Bonsaffoh, E. Abindau, G. Narh, D. Tetteh, F. Botchway, D. Morvey, J. Neequaye, I. K. Quaye
Identification of key pathways and genes in PTEN mutation prostate cancer by bioinformatics analysis
Jian Sun, Shugen Li, Fei Wang, Caibin Fan, Jianqing Wang
COL5A1 rs12722 polymorphism is not associated with passive muscle stiffness and sports-related muscle injury in Japanese athletes
Eri Miyamoto-Mikami, Naokazu Miyamoto, Hiroshi Kumagai, Kosuke Hirata, Naoki Kikuchi, Hirofumi Zempo, Noriko Kimura, Nobuhiro Kamiya, Hiroaki Kanehisa, Hisashi Naito, Noriyuki Fuku
Association of vitamin D receptor TaqI and ApaI genetic polymorphisms with nephrolithiasis and end stage renal disease: a meta-analysis
Tajamul Hussain, Shaik M. Naushad, Anwar Ahmed, Salman Alamery, Arif A. Mohammed, Mohamed O. Abdelkader, Nasser Abobakr Nasser Alkhrm
Novel gene mutation in von Hippel-Lindau disease – a report of two cases
Jitian Wang, Wenjie Cao, Zhaoxia Wang, Hong Zhu
Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadheland, Xue Zhang
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
Shan Li, Jianfei Zhang, Yixuan Cao, Yi You, Xiuli Zhao
LRCH1 polymorphisms linked to delayed encephalopathy after acute carbon monoxide poisoning identified by GWAS analysis followed by Sequenom MassARRAY® validation
Jiapeng Gu, Jiao Zeng, Xi Wang, Xin Gu, Xiaoli Zhang, Ping Zhang, Fan Zhang, Yongkai Han, Yazhou Han, Hongxing Zhang, Wenqiang Li, Renjun Gu
Broadening the phenotype of the TWNK gene associated Perrault syndrome
Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos, Maria Judit Molnar
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul
Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang, Qinglin Kang
Vitamin D receptor ApaI polymorphism associated with progression of liver disease in Vietnamese patients chronically infected with hepatitis B virus
Nghiem Xuan Hoan, Nguyen Khuyen, Dao Phuong Giang, Mai Thanh Binh, Nguyen Linh Toan, Do Tuan Anh, Ngo Tat Trung, Mai Hong Bang, Christian G. Meyer, Thirumalaisamy P. Velavan, Le Huu Song
POLE mutations improve the prognosis of endometrial cancer via regulating cellular metabolism through AMF/AMFR signal transduction
Yiran Li, Yiding Bian, Kai Wang, Xiao-Ping Wan
A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family
Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan, Guohua Ji, Jing Bai, Feng Chen, Yong Liu, Wenjing Sun, Songbin Fu
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao, Hui Lu