BMC Medical Genetics | Home page

BMC Medical Genetics | Home page



BMC Medical Genetics

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1. Content Type:Research Article

     |  7 June 2019

   Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms

   Authors:Javier E. Anaya-Ayala, Susana Hernandez-Doño, Monica Escamilla-Tilch, Jose Marquez-Garcia, Kemberly Hernandez-Sotelo, Rodrigo Lozano-Corona, Daniela Ruiz-Gomez, Julio Granados and Carlos A. Hinojosa
2. Content Type:Research Article

     |  7 June 2019

   A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

   Authors:Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, Sally Ann Lynch and Thomas Arnesen
3. Content Type:Research Article

     |  6 June 2019

   Lack of association between methylenetetrahydrofolate reductase C677T polymorphism, HPV infection and cervical intraepithelial neoplasia in Brazilian women

   Authors:Nayara Nascimento Toledo Silva, Adriano de Paula Sabino, Alexandre Tafuri and Angélica Alves Lima
4. Content Type:Research Article

     |  6 June 2019

   Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females

   Authors:Sokanha Kong and Yoon Shin Cho
5. Content Type:Case Report

     |  4 June 2019

   Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

   Authors:Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri and Florence Roucher-Boulez