A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report

by Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao, Yun Yang
Published 2020-08-01

A <it>de novo </it>marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation

by Abu-Amero Khaled K, Hellani Ali M, Salih Mustafa A, Seidahmed Mohammad Z, Elmalik Tageldin S, Zidan Ghassan, Bosley Thomas M
Published 2010-09-01

Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population

by Rajasalu Tarvo, Nemvalts Virge, Kisand Kalle, Douroudis Konstantinos, Uibo Raivo
Published 2010-01-01

Frequency of single nucleotide polymorphisms in <it>NOD1 </it>gene of ulcerative colitis patients: a case-control study in the Indian population

by Ahuja Vineet, Verma Ravi, Paul Jaishree
Published 2009-09-01

Platelet count and Interleukin 6 Gene polymorphism in healthy subjects

by Gutierrez Cristina, Richart Cristobal, Vendrell Joan, Fernandez-Real José-Manuel, Ricart Wifredo
Published 2001-06-01

MAOA promoter methylation and susceptibility to carotid atherosclerosis: role of familial factors in a monozygotic twin sample

by Zhao Jinying, Forsberg Christopher W, Goldberg Jack, Smith Nicholas L, Vaccarino Viola
Published 2012-11-01

Quantitative assay for the detection of the V617F variant in the Janus kinase 2 (JAK2) gene using the Luminex xMAP technology

by Gaudet Daniel, Simard Raynald, Paradis François W
Published 2010-04-01

Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study

by Horimoto Andréa RVR, Oliveira Camila M, Giolo Suely R, Soler Júlia P, de Andrade Mariza, Krieger José E, Pereira Alexandre C
Published 2012-01-01

Founder mutations in <it>BRCA1/2 </it>are not frequent in Canadian Ashkenazi Jewish men with prostate cancer

by Kotar Kimberley, Hamel Nancy, Foulkes William D
Published 2003-08-01

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

by Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari, Anil Vasudevan
Published 2018-11-01

Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases

by Huhn Stefanie, Bevier Melanie, Rudolph Anja, Pardini Barbara, Naccarati Alessio, Hein Rebecca, Hoffmeister Michael, Vodickova Ludmila, Novotny Jan, Brenner Hermann, Chang-Claude Jenny, Hemminki Kari, Vodicka Pavel, Försti Asta
Published 2012-10-01

Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

by Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader, Alma Osmanovic
Published 2020-03-01

Apolipoprotein E gene polymorphism is not a strong risk factor for diabetic nephropathy and retinopathy in Type I diabetes: case-control study

by Shcherbak Natalia S
Published 2001-07-01

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

by Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang, Houbin Huang
Published 2018-11-01

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

by Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang
Published 2019-10-01

Functional analysis of the novel <it>TBX5 </it>c.1333delC mutation resulting in an extended TBX5 protein

by Ekman-Joelsson Britt-Marie, Vujic Mihailo, Craig Alexander, Heinritz Wolfram, Böhm Johann, Kohlhase Jürgen, Froster Ursula
Published 2008-10-01

Influence of leukotriene gene polymorphisms on chronic rhinosinusitis

by Duval Melanie, Cabaluna Myrna, Hudson Thomas J, Bossé Yohan, Al-Shemari Hasan, Lemire Mathieu, Vallee-Smedja Sophie, Frenkiel Saul, Desrosiers Martin
Published 2008-03-01

Isolated brachydactyly type E caused by a <it>HOXD13 </it>nonsense mutation: a case report

by Jamsheer Aleksander, Sowińska Anna, Kaczmarek Leszek, Latos-Bieleńska Anna
Published 2012-01-01

DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort

by Berciano José, Valdivieso Fernando, Sastre Isabel, Frank Ana, Pozueta Ana, Mateo Ignacio, Rodríguez-Rodríguez Eloy, Sánchez-Juan Pascual, Vázquez-Higuera José, Bullido María J, Combarros Onofre
Published 2009-12-01

Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population

by Arati Suvatha, M. K. Sibin, Dhananjaya I. Bhat, K. V. L. Narasingarao, Vikas Vazhayil, G. K. Chetan
Published 2018-09-01