An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome

by Wagenmann Martin, Balz Vera, Scheckenbach Kathrin, Hoffmann Thomas K
Published 2008-12-01

Association of <it>ALOX5AP</it> gene single nucleotide polymorphisms and cerebral infarction in the Han population of northern China

by Zhang Shuang-yan, Xu Mei-ling, Zhang Cui-e, Qu Zheng-yi, Zhang Bin-bin, Zheng Zu-yan, Zhang Li-ming
Published 2012-07-01

The common rs9939609 variant of the fat mass and obesity-associated gene is associated with obesity risk in children and adolescents of Beijing, China

by Lindpaintner Klaus, Hou Dongqing, Cheng Hong, Wu Lijun, Zhao Xiaoyuan, Liu Xin, Zhang Meixian, Shen Yue, Xi Bo, Liu Lisheng, Mi Jie, Wang Xingyu
Published 2010-07-01

A variant in KCNQ1 gene predicts metabolic syndrome among northern urban Han Chinese women

by Yafei Liu, Chunxia Wang, Yafei Chen, Zhongshang Yuan, Tao Yu, Wenchao Zhang, Fang Tang, Jianhua Gu, Qinqin Xu, Xiaotong Chi, Lijie Ding, Fuzhong Xue, Chengqi Zhang
Published 2018-08-01

Molecular epidemiology of DFNB1 deafness in France

by Molinari Nicolas, Lina Geneviève, Artières Françoise, Leprevost Dorothée, Templin Carine, Faugère Valérie, Vielle Anne, Pallares-Ruiz Nathalie, Roux Anne-Françoise, Blanchet Patricia, Mondain Michel, Claustres Mireille
Published 2004-03-01

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD

by Maruyama Koichi, Awano Hiroyuki, Zhang Zhujun, Itoh Kyoko, Takeshima Yasuhiro, Okizuka Yo, Kumagai Toshiyuki, Yagi Mariko, Matsuo Masafumi
Published 2010-03-01

<it>KCNE1 </it>D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?

by Marjamaa Annukka, Lahtinen Annukka M, Swan Heikki, Kontula Kimmo
Published 2011-01-01

Vitamin D receptor initiation codon polymorphism influences genetic susceptibility to type 1 diabetes mellitus in the Japanese population

by Maruyama Taro, Yamada Satoru, Yanagawa Tatsuo, Taniyama Matsuo, Ban Yoshiyuki, Kasuga Akira, Ban Yoshio
Published 2001-06-01

The E670G SNP in the <it>PCSK9 </it>gene is associated with polygenic hypercholesterolemia in men but not in women

by Beil Frank U, Evans David
Published 2006-07-01

MMP-8 C-799 T, Lys460Thr, and Lys87Glu variants are not related to risk of cancer

by Li-Feng Zhang, Li-Jie Zhu, Wei Zhang, Wei Yuan, Ning-Hong Song, Li Zuo, Yuan-Yuan Mi, Zeng-Jun Wang, Wei Zhang
Published 2019-10-01

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
Published 2020-10-01

Association of <it>IL1A </it>and <it>IL1B </it>loci with primary open angle glaucoma

by Mukhopadhyay Indranil, Banerjee Antara, Chakraborty Subhadip, Banerjee Deblina, Mookherjee Suddhasil, Sen Abhijit, Ray Kunal
Published 2010-06-01

<it>CRP </it>polymorphisms and chronic kidney disease in the third national health and nutrition examination survey

by Glenn Kimberly, Griffin Marie R, Ikizler T Alp, Hung Adriana M, Greevy Robert A, Grijalva Carlos G, Siew Edward D, Crawford Dana C
Published 2011-05-01

Pooling analysis regarding the impact of human vitamin D receptor variants on the odds of psoriasis

by Juan Li, Li Sun, Jinghui Sun, Min Yan
Published 2019-10-01

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus

by Chandok Gurangad, Farahani Maryam M, Sadeghpour Anita, Keramati Ali R, Mani Arya
Published 2010-10-01

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

by Nagel Bert, Gruber-Sedlmayr Ursula, Uhrig Sabine, Stöllberger Claudia, Klopocki Eva, Finsterer Josef
Published 2012-07-01

Relationship of circulating cell-free DNA levels to cell-free fetal DNA levels, clinical characteristics and laboratory parameters in preeclampsia

by M&#233;zes Mikl&#243;s, Balogh Kriszti&#225;n, Cervenak L&#225;szl&#243;, Mak&#243; Veronika, Proh&#225;szka Zolt&#225;n, Lazar Levente, Rig&#243; J&#225;nos, Nagy B&#225;lint, Molvarec Attila
Published 2009-01-01

Association of ADIPOQ gene variants with body weight, type 2 diabetes and serum adiponectin concentrations: the Finnish Diabetes Prevention Study

by Venojärvi Mika, Eriksson Johan G, Kolehmainen Marjukka, Lindström Jaana, Pulkkinen Leena, Siitonen Niina, Ilanne-Parikka Pirjo, Keinänen-Kiukaanniemi Sirkka, Tuomilehto Jaakko, Uusitupa Matti
Published 2011-01-01

β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus

by Riccardi Gabriele, Lapice Emanuela, Donnarumma Giovanna, Cocozza Sergio, Acquaviva Fabio, Giacchetti Manuela, Pinelli Michele, Romano Geremia, Vaccaro Olga, Monticelli Antonella
Published 2006-12-01

Contribution of the <it>PALB2</it> c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian...

by Tischkowitz Marc, Sabbaghian Nelly, Hamel Nancy, Pouchet Carly, Foulkes William D, Mes-Masson Anne-Marie, Provencher Diane M, Tonin Patricia N
Published 2013-01-01