Search Results - "Medical Genetics"

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation by Olesen Morten S, Bentzen Bo H, Nielsen Jonas B, Steffensen Annette B, David Jens-Peter, Jabbari Javad, Jensen Henrik K, Haunsø Stig, Svendsen Jesper H, Schmitt Nicole

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Novel <it>APC </it>mutations in Czech and Slovak FAP families: clinical and genetic aspects by Vesela Kamila, Ilencikova Denisa, Kotlas Jaroslav, Zidkova Katerina, Kebrdlova Vera, Sulova Martina, Stekrova Jitka, Kohoutova Milada

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The candidate genes <it>TAF5L, TCF7, PDCD1</it>, <it>IL6 </it>and <it>ICAM1 </it>cannot be excluded from having effects in type 1 diabetes by Vella Adrian, Zeitels Lauren R, Masters Jennifer, Godfrey Lisa M, Downes Kate, Payne Felicity, Bailey Rebecca, Smyth Deborah J, Cooper Jason D, Walker Neil M, Todd John A

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Novel potential causative genes in carotid paragangliomas by Anastasiya V. Snezhkina, Elena N. Lukyanova, Andrew R. Zaretsky, Dmitry V. Kalinin, Anatoly V. Pokrovsky, Alexander L. Golovyuk, George S. Krasnov, Maria S. Fedorova, Elena A. Pudova, Sergey L. Kharitonov, Nataliya V. Melnikova, Boris Y. Alekseev, Marina V. Kiseleva, Andrey D. Kaprin, Alexey A. Dmitriev, Anna V. Kudryavtseva

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Association between promoter -1607 polymorphism of <it>MMP1 </it>and Lumbar Disc Disease in Southern Chinese by Leong John CY, Yip Shea-Ping, Luk Keith DK, Fan Bao-Jian, Kao Patrick YP, Karppinen Jaro, Ho Daniel WH, Song You-Qiang, Cheah Kathryn SE, Sham Pak, Chan Danny, Cheung Kenneth MC

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Essential role of the N-terminal region of TFII-I in viability and behavior by Sousa Nuno, Zindel Marc Y, Barthelemy Isabel, Segura Maria, Sampaio Adriana, Dubus Pierre, Carreiro Candelas, Valero Maria C, Aso Ester, Pezzi Susana, Lucena Jaume, Barbero José L, Maldonado Rafael, Pérez-Jurado Luis A, Campuzano Victoria

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Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder by Reddy Kavita S

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Examination of <it>NRCAM</it>, <it>LRRN3</it>, KIAA0716, and <it>LAMB1 </it>as autism candidate genes by Santangelo Susan L, Folstein Susan E, Bradford Yuki, Olson Lana M, Hutcheson Holli B, Sutcliffe James S, Haines Jonathan L

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Association of NOS3 gene polymorphisms with essential hypertension in Sudanese patients: a case control study by Sahar Gamil, Jeanette Erdmann, Ihab B. Abdalrahman, Abdelrahim O. Mohamed

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Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report by Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr, Thomas Arnesen

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The effect of ERCC1 and ERCC2 gene polymorphysims on response to cisplatin based therapy in osteosarcoma patients by Hadeel Obiedat, Nasr Alrabadi, Eyad Sultan, Marwa Al Shatti, Malek Zihlif

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Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue by Dourisboure Ricardo J, Nicolorich Maria V, de La Vega Elena Carlos D, Landi Carolina, Fornes Claudia, Chialina Sergio G, Solano Angela, Solis Edita A

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A novel VPS13B mutation in Cohen syndrome: a case report and review of literature by Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein, Nima Rezaei

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Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? <it>Design... by Cornel Martina C, Kuik Dirk J, Heutink Peter, Bochdanovits Zoltan, Henneman Lidewij, Teeuw Marieke E, ten Kate Leo P

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Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families by 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

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A case of Raine syndrome presenting with facial dysmorphy and review of literature by Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi

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Genetic and expression studies of <it>SMN2 </it>gene in Russian patients with spinal muscular atrophy type II and III by Schiöth Helgi B, Egorova Anna A, Chavan Rohit, Rask-Andersen Mathias, Vakharlovsky Viktor G, Kiselev Anton V, Zheleznyakova Galina, Baranov Vladislav S

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Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk by Kristina M. Jordahl, Amanda I. Phipps, Timothy W. Randolph, Lesley F. Tinker, Rami Nassir, Lifang Hou, Garnet L. Anderson, Karl T. Kelsey, Emily White, Parveen Bhatti

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Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer by Anna Bobyn, Mehdi Zarrei, Yuankun Zhu, Mary Hoffman, Darren Brenner, Adam C. Resnick, Stephen W. Scherer, Marco Gallo

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Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population by Ma Shi, Chen Ming, Rao Shaoqin, Liu Xiaoqi, Lu Fang, Wang Li, Yang Yang, Xian Yang, Li Ying, Zhang Xuejun, Tang Xin, Zhang Ben, Cai Li, Li Pengqiu, Lin Ying, Shi Yi, Bao Mingjing, Wu Jichuan, Yang Yan, Yang Jiyun, Yang Zhenglin

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