Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases

by Kida Kozui, Ishii Takeo, Kumasaka Toshio, Tanaka Noriko, Arai Tomio, Ikeda Shinobu, Fujimoto Koichi, Muramatsu Masaaki, Sawabe Motoji
Published 2010-11-01

Selecting a <it>BRCA </it>risk assessment model for use in a familial cancer clinic

by Canon Sandra, Ennis Marguerite, Panchal Seema M, Bordeleau Louise J
Published 2008-12-01

Glutathione S-transferase M1 and T1 genes deletion polymorphisms and risk of developing essential hypertension: a case-control study in Burkina Faso population (West Africa)

by Herman Karim Sombié, Abel Pegdwendé Sorgho, Jonas Koudougou Kologo, Abdoul Karim Ouattara, Sakinata Yaméogo, Albert Théophane Yonli, Florencia Wendkuuni Djigma, Daméhan Tchelougou, Dogfounianalo Somda, Isabelle Touwendpoulimdé Kiendrébéogo, Prosper Bado, Bolni Marius Nagalo, Youssoufou Nagabila, Enagnon Tiémoko Herman Donald Adoko, Patrice Zabsonré, Hassanata Millogo, Jacques Simporé
Published 2020-03-01

Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels

by Cohen William, Germain Marine, Dimitromanolakis Apostolos, Oudot-Mellakh Tiphaine, Antoni Guillemette, Wells Philip, Lathrop Mark, Gagnon France, Morange Pierre-Emmanuel, Tregouet David-Alexandre
Published 2011-08-01

Promoter polymorphism -119C/G in <it>MYG1 </it>(C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1

by Vikeså Jonas, Porosaar Orm, Reemann Paula, Reimann Ene, Aunin Eerik, Rätsep Ranno, Karelson Maire, Kingo Külli, Philips Mari-Anne, Nielsen Finn C, Vasar Eero, Silm Helgi, Kõks Sulev
Published 2010-04-01

First molecular screening of deafness in the Altai Republic population

by Claustres Mireille, Osipova Ludmila, Tadinova Vera, Pallares-Ruiz Nathalie, Posukh Olga, Roux Anne-Françoise
Published 2005-03-01

Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population

by Yuming Bai, Shijun Gao, Ying Liu, Shengli Jin, Haisen Zhang, Ke Su
Published 2019-01-01

Association study between a polymorphic poly-T repeat sequence in the promoter of the somatostatin gene and metabolic syndrome

by Monique Tremblay, Diane Brisson, Daniel Gaudet
Published 2018-07-01

f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies

by Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya, Atsushi Shimizu
Published 2017-07-01

Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk

by Zhiqing Wang, Shu Liu, Siping Liu, Yadong Wang, Junsheng Chen, Baoping Wu
Published 2018-05-01

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

by Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar
Published 2020-06-01

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

by Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu
Published 2020-07-01

The value of some Corsican sub-populations for genetic association studies

by Vona Giuseppe, Varesi Laurent, Sole Gabriella, Latini Veronica, Ristaldi Maria
Published 2008-07-01

Correction: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patient...

by Chassaing Augustin, Avan Paul, Germain Dominique P, Bonfils Pierre
Published 2004-04-01

Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (<it>TRPM6 </it>and <it>TRPM7</it>), magnesium intake, and risk of type 2 diabet...

by Manson JoAnn E, Niu Tianhua, Hsu Yi-Hsiang, Song Yiqing, Buring Julie E, Liu Simin
Published 2009-01-01

Analysis of <it>KLF </it>transcription factor family gene variants in type 2 diabetes

by Marre Michel, Balkau Beverley, Vaillant Emmanuel, Benmezroua Yamina, Gutiérrez-Aguilar Ruth, Charpentier Guillaume, Sladek Rob, Froguel Philippe, Neve Bernadette
Published 2007-08-01

An African perspective on the genetic risk of chronic kidney disease: a systematic review

by Cindy George, Yandiswa Y Yako, Ikechi G Okpechi, Tandi E Matsha, Francois J. Kaze Folefack, Andre P Kengne
Published 2018-10-01

A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infections

by Xu Xiu, Xu Qiong, Zhang Ying, Zhang Xiaodi, Cheng Tianlin, Wu Bingbing, Ding Yanhua, Lu Ping, Zheng Jingjing, Zhang Min, Qiu Zilong, Yu Xiang
Published 2012-08-01

Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands

by Arijit Karmakar, Rishov Goswami, Tanusree Saha, Subhamita Maitra, Anirban Roychowdhury, Chinmay Kumar Panda, Swagata Sinha, Anirban Ray, Kochupurackal P. Mohanakumar, Usha Rajamma, Kanchan Mukhopadhyay
Published 2017-10-01

Novel deletion alleles carrying <it>CYP21A1P</it>/<it>A2 </it>chimeric genes in Brazilian patients with 21-hydroxylase deficiency

by Guerra-Júnior Gil, Baptista Maria TM, de Lemos-Marini Sofia HV, Petroli Reginaldo J, Lau Ivy F, Paulino Luciana C, de Araújo Marcela, Bernardi Renan D, Soardi Fernanda C, Coeli Fernanda B, de-Mello Maricilda P
Published 2010-06-01