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- 1From: BMC Medical Genetics. (Vol. 20, Issue 1) Peer-ReviewedBackground Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior...
- 2From: BMC Medical Genetics. (Vol. 20, Issue 1) Peer-ReviewedBackground Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely...
- 3From: BMC Medical Genetics. (Vol. 20, Issue 1) Peer-ReviewedBackground Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital...
- 4From: BMC Medical Genetics. (Vol. 20, Issue 1) Peer-ReviewedBackground Vitamin D derivatives and their receptor (VDR) are potent modulators of immune responses in various diseases including malignancies as well as in metabolic and infectious disorders. The impact of vitamin D...
- 5From: BMC Medical Genetics. (Vol. 21, Issue 1) Peer-ReviewedIntroduction The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause...
- 6From: BMC Medical Genetics. (Vol. 20, Issue 1) Peer-ReviewedBackground In recent years, several GWAS (genome wide association studies) of sleep-related traits have identified a number of SNPs (single nucleotides polymorphism) but their relationships with symptoms of insomnia...
- 7From: BMC Medical Genetics. (Vol. 20, Issue 1) Peer-ReviewedObjectives Whether high sensitivity C-reactive protein (hs-CRP) has a causal effect on coronary heart disease (CHD) is unclear. This study investigated the causal effect of hs-CRP on CHD risk using Mendelian...
- 8From: BMC Medical Genetics. (Vol. 20, Issue 1) Peer-ReviewedBackground A 32-base pair deletion ([DELA]32) in the open reading frame (ORF) of C-C motif chemokine receptor 5 (CCR5) seems to be a protective variant against immune system diseases, especially human immunodeficiency...
- 9From: BMC Medical Genetics. (Vol. 20, Issue 1) Peer-ReviewedBackground Von Hippel-Lindau (VHL) syndrome is a familial autosomal dominant hereditary neoplastic disease caused by mutations in the VHL gene. Approximately 503 kinds of VHL gene mutations have been reported....
- 10From: BMC Medical Genetics. (Vol. 21, Issue 1) Peer-ReviewedBackground Spontaneous coronary artery dissection (SCAD) is frequently reported as a disorder that primarily affects women without risk factors for cardiovascular disease. Although it has been recognized as one of the...
- 11From: BMC Medical Genetics. (Vol. 21, Issue 1) Peer-ReviewedBackground Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing...
- 12From: BMC Medical Genetics. (Vol. 21, Issue 1) Peer-ReviewedBackground The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1...
- 13From: BMC Medical Genetics. (Vol. 21, Issue 1) Peer-ReviewedBackground Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for...
- 14From: BMC Medical Genetics. (Vol. 21, Issue 1) Peer-ReviewedBackground Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk...
- 15From: BMC Medical Genetics. (Vol. 21, Issue Suppl 1) Peer-ReviewedAuthor(s): Ancha V. Baranova1,2, Elena Yu. Leberfarb3, Georgy S. Lebedev4 and Yuriy L. Orlov3,4,5 Current medical genetics research is oriented on next-generation sequencing technologies, genomics studies [1, 2]. This...
- 16From: BMC Medical Genetics. (Vol. 8) Peer-ReviewedAuthors: Marko Cukjati (corresponding author) (equal contributor) [1]; Toma? Vaupoti? (equal contributor) [1,2]; Ruth Rupreht [1]; Vladka ?urin-?erbec [1] Background Hereditary hemochromatosis (HH) is an inherited...
- 17From: BMC Medical Genetics. (Vol. 9) Peer-ReviewedAuthors: Eugénia Cruz (corresponding author) [1,2]; Chris Whittington [3]; Samuel H Krikler [4,5]; Cláudia Mascarenhas [2]; Rosa Lacerda [6]; Jorge Vieira [7]; Graça Porto [1,2,6] Background Hereditary...
- 18From: BMC Medical Genetics. (Vol. 9) Peer-ReviewedAuthors: Line Olsen [1]; Thomas Hansen [1,7]; Klaus D Jakobsen [1,7]; Srdjan Djurovic [2]; Ingrid Melle [2]; Ingrid Agartz [3]; Haakan Hall [3]; Henrik Ullum [4]; Sally Timm [5]; August G Wang [6]; Erik G Jönsson [3];...
- 19From: BMC Medical Genetics. (Vol. 10) Peer-ReviewedAuthors: Ingrid Dahlman [1]; Maria Nilsson [2]; Harvest F Gu [3]; Cecile Lecoeur [4]; Suad Efendic [3]; Claes G Ãstenson [3]; Kerstin Brismar [3]; Jan-Ãke Gustafsson [2,6]; Philippe Froguel [4,5]; Martine Vaxillaire [4];...
- 20From: BMC Medical Genetics. (Vol. 10) Peer-ReviewedAuthors: Katarina Domanska (corresponding author) [1]; Christina Carlsson [1]; Pär-Ola Bendahl [1]; Mef Nilbert [1,2] Background Clinicians are increasingly expected to be familiar with hereditary cancer, including...