Search Results - "Medical Genetics"

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family by Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu, Xiong Wang

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Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report by Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu, Peiqiang Su

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No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins by Wardle Jane, Docherty Sophia J, Butcher Lee M, Haworth Claire MA, Plomin Robert

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<it>FOXP2 </it>gene and language impairment in schizophrenia: association and epigenetic studies by Moltó María D, Dagnall Adam M, Sanjuán Julio, Tolosa Amparo, Herrero Neus, de Frutos Rosa

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Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites by Xuliang Zhao, Xu Li, Weiwei Sun, Jian-an Jia, Min Yu, Ruixia Tian

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Epilepsy Combined With Multiple Gene Heterozygous Mutation by He Qiuju, He Qiuju, He Qiuju, Zhuang Jianlong, Wen Qi, Wen Qi, Wen Qi, Li Zhifa, Wang Ding, Wang Ding, Sun Xiaofang, Sun Xiaofang, Xie Yingjun, Xie Yingjun

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Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report by deMello Daphne E, Mavers Melissa, Bogucki Brian, Shah Maulik, Knutsen Alan

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A study of the relationships between <it>KLF2 </it>polymorphisms and body weight control in a French population by Cottel Dominique, Meirhaeghe Aline, Amouyel Philippe

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Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease by Chi Zhou, Jin Huang, Guanglin Cui, Hesong Zeng, Dao Wen Wang, Qiang Zhou

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Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5q... by Tommerup Niels, Baekgaard Peter, Pedersen Vibeke, Ledaal Paal, Friis Birgitte, Hahnemann Johanne, Hjalgrim Helle, Tümer Zeynep, Sogaard Marie, Cingöz Sultan, Duno Morten, Brondum-Nielsen Karen

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Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease by Brønstad Ingeborg, Wolff Anette SB, Løvås Kristian, Knappskog Per M, Husebye Eystein S

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Quantitative phenotype scan statistic (QPSS) reveals rare variant associations with Alzheimer's disease endophenotypes by Yuriko Katsumata, David W. Fardo

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Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods by Hollands Gareth J, Armstrong David, Macfarlane Angela, Crook Martin A, Marteau Theresa M

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RASopathy in Patients With Isolated Sagittal Synostosis by Amani Ali Davis BA, Giulio Zuccoli MD, Mostafa M. Haredy MD, Joseph Losee MD, Ian F. Pollack MD, Suneeta Madan-Khetarpal MD, Jesse A. Goldstein MD, Ken K. Nischal MD

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Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report by Zhen Liu, Jingcheng Zhou, Liang Li, Zhiqiang Yi, Runchun Lu, Chunwei Li, Kan Gong

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A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report by W. Smaili, S. Chafai Elalaoui, S. Meier, M. Zerkaoui, A. Sefiani, K. Heinimann

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CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity by Bleecker Eugene R, Bamford Penelope, Stern Augustus, Howard Timothy D, Blaisdell Carol J, Stine O Colin

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GAIA: An easy-to-use web-based application for interaction analysis of case-control data by Macgregor Stuart, Khan Imtiaz A

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Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus by Jiménez-Alonso Juan, García-Hernández Francisco J, Garcia-Portales Rosa, de Ramón Enrique, Callejas José L, Sabio José M, Sánchez Elena, González-Escribano Ma Francisca, Martín Javier, Koeleman Bobby P

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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects by Larsen Mogens L, Nielsen Gitte G, Stenderup Anette, Damgaard Dorte, Nissen Peter H, Færgeman Ole

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