Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene

by Ming Gao, Bin Zhu, Zhe Xu, Shujun Liu, Jiajia Liu, Guojun Zhang, Yang Gao, Yubo Fan, Xixiong Kang
Published 2018-10-01

Detection of Catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE

by Matsumoto Hiroyuki, Kurono Sadamu, Shenoi Jaideep, Rodgers Rosalie, Kurien Biji T, D'souza Anil, Hensley Kenneth, Nath Swapan K, Scofield R Hal
Published 2008-07-01

The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis

by Qiuyue Wu, Jing Zhang, Peiran Zhu, Weijun Jiang, Shuaimei Liu, Mengxia Ni, Mingchao Zhang, Weiwei Li, Qing Zhou, Yingxia Cui, Xinyi Xia
Published 2017-08-01

Association of limbic system-associated membrane protein (LSAMP) to male completed suicide

by Maron Eduard, Kõks Sulev, Vasar Eero, Lang Aavo, Tasa Gunnar, Must Anne, Väli Marika
Published 2008-04-01

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

by Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders
Published 2017-11-01

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an <it>APC</it> large deletion in a familial adenomatous polyposis patient with an unusual phenotype

by Torrezan Giovana, da Silva Felipe Cavalcanti, Krepischi Ana Cristina, dos Santos Érika Maria, Rossi Benedito, Carraro Dirce
Published 2012-07-01

Mutation analysis of the LCE3B/LCE3C genes in Psoriasis

by Soto Javier, Díaz Marta, Coto-Segura Pablo, Santos-Juanes Jorge, Coto Eliecer, Queiro Rubén, Alvarez Victoria
Published 2010-03-01

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

by María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
Published 2018-03-01

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in <it>GNE</it>

by Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B
Published 2011-06-01

Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

by Zhang Wei-Min, Chien Yin-Hsiu, Tang Nelson LS, Chen Chun-An, Wang Jou-Kou, Hwu Wuh-Liang
Published 2005-06-01

Association of <it>PGC-1alpha </it>polymorphisms with age of onset and risk of Parkinson's disease

by Betensky Rebecca A, Zheng Kangni, Reddy Sonika, Clark Joanne, Simon David K
Published 2011-05-01

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

by Mohammad M. Al-Qattan, Ali Hadadi, Abdullah M. Al-Thunayan, Ahmed A. Eldali, Mohammed A. AlBalwi
Published 2018-09-01

Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults

by Schreiner Felix, El-Maarri Osman, Gohlke Bettina, Stutte Sonja, Nuesgen Nicole, Mattheisen Manuel, Fimmers Rolf, Bartmann Peter, Oldenburg Johannes, Woelfle Joachim
Published 2011-09-01

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study

by Ott Sandy, Ramachandran Vasan, Wang Ying, Damcott Coleen M, Mitchell Braxton D, Rutherford Sue, McArdle Patrick F, Chang Yen-Pei C, Levy Daniel, Steinle Nanette
Published 2008-07-01

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

by Jamsheer Aleksander, Sowińska Anna, Simon Dorota, Jamsheer-Bratkowska Małgorzata, Trzeciak Tomasz, Latos-Bieleńska Anna
Published 2013-01-01

Lack of association between polymorphisms of the <it>IL18R1 </it>and <it>IL18RAP </it>genes and cardiovascular risk: the MORGAM Project

by Nicaud Viviane, Cambien François, Kuulasmaa Kari, Salomaa Veikko, DeSuremain Maylis, Alanne Mervi, Proust Carole, Grisoni Marie-Lise, Wiklund Per-Gunnar, Virtamo Jarmo, Kee Frank, Tiret Laurence, Evans Alun, Tregouet David-Alexandre
Published 2009-05-01

<it>Catechol-O-Methyltransferase (COMT) Val</it>^108/158<it>Met </it>polymorphism does not modulate executive function in children with ADHD

by Stepanian Marina, Torkaman-Zehi Adam, Deguzman Rosherie, Mbekou Valentin, Lageix Philippe, Amor Leila, Grizenko Natalie, Taerk Evan, Baron Chantal, Joober Ridha
Published 2004-12-01

Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood

by Jasmine Khouja, Sarah J. Lewis, Carolina Bonilla
Published 2018-04-01

Autoimmune Polyglandular Syndrome Type 1: a case report

by Sayed Mahmoud Sajjadi-Jazi, Akbar Soltani, Samaneh Enayati, Armita Kakavand Hamidi, Mahsa M. Amoli
Published 2019-08-01

<it>MRPS18CP2 </it>alleles and <it>DEFA3 </it>absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

by Fischel-Ghodsian Nathan, Mercader Josep, Ballana Ester, Estivill Xavier
Published 2007-12-01