Search Results - "Medical genetics"

Identification of genetic variants for clinical management of familial colorectal tumors by Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig

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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome by Giordano Lucio, Accorsi Patrizia, Finelli Palma, Marchi Margherita, Camporeale Nicole, Russo Silvia, Recalcati Maria, Ballarati Lucia, Vignoli Aglaia, Giardino Daniela, La Briola Francesca, Chiesa Valentina, Canevini Maria, Larizza Lidia

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HLA-A and -B alleles and haplotypes in hemochromatosis probands with <it>HFE</it> C282Y homozygosity in central Alabama by Barton James C, Acton Ronald T

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Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn's disease subjects by Williams Turpin, Larbi Bedrani, Osvaldo Espin-Garcia, Wei Xu, Mark S. Silverberg, Michelle I. Smith, Juan Antonio Raygoza Garay, Sun-Ho Lee, David S. Guttman, Anne Griffiths, Paul Moayyedi, Remo Panaccione, Hien Huynh, Hillary A. Steinhart, Guy Aumais, Levinus A. Dieleman, Dan Turner, CCC IBD GEM Project research team, Andrew D. Paterson, Kenneth Croitoru

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Identification of polymorphisms and balancing selection in the male infertility candidate gene, <it>ornithine decarboxylase antizyme 3</it> by Atkins John F, Wooding Stephen P, Ivanov Ivaylo P, Christensen Greg L, Mielnik Anna, Schlegel Peter N, Carrell Douglas T

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Pitfalls in mutational testing and reporting of common <it>KIT </it>and <it>PDGFRA </it>mutations in gastrointestinal stromal tumors by Penzel Roland, Mechtersheimer Gunhild, Krohn Antje, Kitz Julia, Haller Florian, Gaumann Andreas, Füzesi Laszlo, Dietmaier Wolfgang, Merkelbach-Bruse Sabine, Schildhaus Hans-Ulrich, Schneider-Stock Regine, Simon Ronald, Wardelmann Eva

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Asthma-susceptibility variants identified using probands in case-control and family-based analyses by Himes Blanca E, Lasky-Su Jessica, Wu Ann C, Wilk Jemma B, Hunninghake Gary M, Klanderman Barbara, Murphy Amy J, Lazarus Ross, Soto-Quiros Manuel E, Avila Lydiana, Celedón Juan C, Lange Christoph, O'Connor George T, Raby Benjamin A, Silverman Edwin K, Weiss Scott T

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Genome screen in familial intracranial aneurysm by Langefeld Carl, Bailey-Wilson Joan E, Meissner Irene, Hornung Richard, Deka Ranjan, Flaherty Matthew L, Kleindorfer Dawn, Woo Daniel, Anderson Craig, Brown Robert, Sauerbeck Laura, Foroud Tatiana, Rouleau Guy, Connolly E Sander, Lai Dongbing, Koller Daniel L, Huston John, Broderick Joseph P

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Thymic stromal lymphopoietin gene promoter polymorphisms and expression levels in Graves' disease and Graves' ophthalmopathy by Tsai Kun-Hsi, Tsai Fuu-Jen, Lin Hui-Ju, Lin Hung-Jung, Liu Yu-Huei, Liao Wen-Ling, Wan Lei

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Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease by Martinelli Nicola, Olivieri Oliviero, Girelli Domenico, Biscuola Michele, Malerba Giovanni, Trabetti Elisabetta, Cavallari Ugo, Angiolillo Dominick J, Corrocher Roberto, Pignatti Pier

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The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy by Neri Marcella, Valli Emanuele, Alfano Giovanna, Bovolenta Matteo, Spitali Pietro, Rapezzi Claudio, Muntoni Francesco, Banfi Sandro, Perini Giovanni, Gualandi Francesca, Ferlini Alessandra

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<it>Methionine synthase A2756G </it>polymorphism may predict ulcerative colitis and <it>methylenetetrahydrofolate reductase C677T </it>pancolitis, in Central China by Bronowicki Jean-Pierre, Guéant-Rodrigue, Xia Bing, Peyrin-Biroulet Laurent, Chen Min, Bigard Marc-André, Guéant Jean-Louis

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Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents by Osmar Henrique Della Torre, Lúcia Arisaka Paes, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Eloisa Helena Rubello Valler Celeri, Paulo Dalgalarrondo, Gil Guerra-Júnior, Amilton dos Santos-Júnior

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Birth weight and blood lipid levels in Spanish adolescents: Influence of selected APOE, APOC3 and PPARgamma2 gene polymorphisms. The AVENA Study by Fuentes Miguel, Nova Esther, Martí Amelia, González-Lamuño Domingo, Moreno Luis A, Ortega Francisco B, Labayen Idoia, Ruiz Jonatan R, Redondo-Figuero Carlos, Martínez J Alfredo, Sjöström Michael, Castillo Manuel J

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Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report by 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

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Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study by Shahanas Chathoth, Mona H. Ismail, Chittibabu Vatte, Cyril Cyrus, Zhara Al Ali, Khandaker Ahtesham Ahmed, Sadananda Acharya, Aisha Mohammed Al Barqi, Amein Al Ali

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Multiple interactions between the alpha_2C- and beta₁-adrenergic receptors influence heart failure survival by Case Karen L, Hahn Harvey S, Grabowski Gregory A, Aronow Bruce J, Keddache Mehdi A, Kelly Reagan J, Kardia Sharon LR, Wagoner Lynne E, Dorn Gerald W, Liggett Stephen B

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Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families by Shan Li, Yi You, Jinsong Gao, Bin Mao, Yixuan Cao, Xiuli Zhao, Xue Zhang

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Prevalence and novelty of <it>PRPF31 </it>mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports by Mohand-Saïd Saddek, Bujakowska Kinga, Audo Isabelle, Lancelot Marie-Elise, Moskova-Doumanova Veselina, Waseem Naushin H, Antonio Aline, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina

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A <it>SRY</it>-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient by Batra Swaraj, Haque Shameemul, Khalil Hesham, Dhillon Varinderpal S, Shahid Mohammad, Husain Syed, Looijenga LHJ

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