Search Results - "Medical genetics"

Insulin Promoter Factor 1 variation is associated with type 2 diabetes in African Americans by Wang Xiaoqin, Karim Mohammad A, Hale Terri C, Elbein Steven C

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The first Dutch <it>SDHB </it>founder deletion in paraganglioma - pheochromocytoma patients by Devilee Peter, Dullaart Robin PF, Jansen Jeroen C, Lenders Jacques W, Kunst Henricus P, van der Wielen Michiel, van Bunderen Patrick A, Grimbergen Anneliese EM, Bayley Jean-Pierre, Corssmit Eleonora P, Vriends Annette H, Losekoot Monique, Weiss Marjan M

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

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A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes by Slifer Susan, McClendon Mark S, Wang Liyong, Rundek Tatjana, Beecham Ashley, Della-Morte David, Blanton Susan H, Di Tullio Marco R, Sacco Ralph L

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Identification of a novel <it>KCNQ1 </it>mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family by Liu Jing, Yang Junguo, Cheng Lingling, Zhang Shirong, Wang Pengyun, Ren Xiang, Yin Ke, Zhang Su, Liu Mugen, Wang Qing

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Methylenetetrahydrofolate reductase C677T polymorphism in patients with lung cancer in a Korean population by Yun Woo-Jun, Choi Jin-Su, Kweon Sun-Seog, Piao Jin-Mei, Song Hye-Rim, Kim Hee, Shin Min-Ho, Cui Lian-Hua, Kim Young-Chul, Oh In-Jae, Kim Kyu-Sik

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Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations by Huy-Hoang Nguyen, Ngoc Khanh Nguyen, Chi Dung Vu, Thi Thu Huong Nguyen, Thi Thu Huong Nguyen, Ngoc-Lan Nguyen, Ngoc-Lan Nguyen

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A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers by Olsson Malin, Norgren Nina, Obayashi Konen, Plante-Bordeneuve Violaine, Suhr Ole B, Cederquist Kristina, Jonasson Jenni

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BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 by Estivill Xavier, Gabau Elisabeth, García-Aragonés Manel, Heine Damià, Rosell Jordi, Armengol Lluís, Brunet Anna, Guitart Miriam

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Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study by Mette Hollensted, Claus T. Ekstrøm, Oluf Pedersen, Hans Eiberg, Torben Hansen, Anette Prior Gjesing

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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort by Santos Susana, Marques Vanda, Pires Marina, Silveira Leonor, Oliveira Helena, Lança Vasco, Brito Dulce, Madeira Hugo, Esteves J Fonseca, Freitas António, Carreira Isabel M, Gaspar Isabel M, Monteiro Carolino, Fernandes Alexandra R

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

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Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of <i>POLG</i> c.3286C>T Variant by Kanokwan Sriwattanapong, Kitiwan Rojnueangnit, Thanakorn Theerapanon, Chalurmpon Srichomthong, Thantrira Porntaveetus, Vorasuk Shotelersuk

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Molecular epidemiology of DFNB1 deafness in France by Molinari Nicolas, Lina Geneviève, Artières Françoise, Leprevost Dorothée, Templin Carine, Faugère Valérie, Vielle Anne, Pallares-Ruiz Nathalie, Roux Anne-Françoise, Blanchet Patricia, Mondain Michel, Claustres Mireille

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Contrasting genetic association of <it>IL2RA </it>with SLE and ANCA - associated vasculitis by Todd John A, Lowe Christopher E, Clatworthy Menna R, Carr Edward J, Wong Andrew, Vyse Timothy J, Kamesh Lavanya, Watts Richard A, Lyons Paul A, Smith Kenneth GC

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Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report by Heye Chen, Wei Yao, Qing He, Xuefang Yu, Bo Bian

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No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families by Yue Hua, Zhang Hao, He Jin-Wei, Gao Gao, Zhang Zhen-Lin, Hu Wei-Wei, Gu Jie-Mei, Fu Wen-Zhen, Hu Yun-Qiu, Li Miao, Liu Yu-Juan, Yu Jin-Bo

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Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives by El Haddad L, Khan M, Soufny R, Mummy D, Driehuys B, Mansour W, Kishnani PS, ElMallah MK

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Lack of association between serotonin transporter gene polymorphism 5-<it>HTTLPR </it>and smoking among Polish population: a case-control study by Jassem Ewa, Buczkowski Krzysztof, Sieminska Alicja, Tkacz Ewa

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Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports by Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi

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