Search Results - "Medical genetics"

LINE-1 methylation is inherited in familial testicular cancer kindreds by Gadalla Shahinaz M, Korde Larissa, Savage Sharon A, Mirabello Lisa, Greene Mark H

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Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM1... by Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones

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Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures by Bergstrom Carl T, Lipsitch Marc, Antia Rustom

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

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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 by Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah

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Hepcidin gene polymorphisms and iron overload in β-thalassemia major patients refractory to iron chelating therapy by Parinaz Zarghamian, Azita Azarkeivan, Ali Arabkhazaeli, Ahmad Mardani, Majid Shahabi

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Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report by Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu, Li Sun

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Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians by González-Macías Jesús, Alonso María A, Zarrabeitia María T, Pérez-Castrillón José L, Hernández José L, Velasco Javier, Riancho José A

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Association between <it>XRCC1</it> polymorphism 399 G->A and glioma among Caucasians: a systematic review and meta-analysis by Jacobs Daniel I, Bracken Michael B

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Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension by Ossama K. Abou Hassan, Wiam Haidar, Mariam Arabi, Hadi Skouri, Fadi Bitar, Georges Nemer, Imad Bou Akl

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing by Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli

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Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population by Hudgens Edward E, Leiner Kevin A, Edwards Stephen W, Reif David M, Joubert Bonnie R, Egeghy Peter, Gallagher Jane E, Hubal Elaine

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Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea by Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim, Yonggoo Kim

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Common variants of the <it>TCF7L2 </it>gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population by Kumar Sudhesh, O'Hare J Paul, Britten Abigail C, Bellary Srikanth, Rees Simon D, Barnett Anthony H, Kelly M Ann

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A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree by Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li

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Interaction of functional <it>NPC1 </it>gene Polymorphism with smoking on coronary heart disease by Hui Rutai, Sun Kai, Wang Hu, Zheng Xinxin, Zhang Lin, Xin Ying, Wang Qianqian, Xu Jing, Ma Weiwei, Huang Xiaohong

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A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing by Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

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Variation in Uteroglobin-Related Protein 1 (<it>UGRP1</it>) gene is associated with Allergic Rhinitis in Singapore Chinese by Wang De Yun, Suri Bani, Anantharaman Ramani, Parate Pallavi, Yeo Wei, Andiappan Anand, Chew Fook

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A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population by Jung Yeon Seo, Joong-Gon Shin, Byeong Ju Youn, Suhg Namgoong, Hyun Sub Cheong, Lyoung Hyo Kim, Ji On Kim, Hyoung Doo Shin, Yoon Jun Kim

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Analysis of polymorphic <it>TGFB1 </it>codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults by Gressner Axel M, Riediger Dieter, Stoll Doris, Mengsteab Senait, Stoll Christian, Weiskirchen Ralf

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