Results 51 to 60 of about 2,862 (212)
Rare coding variants and X-linked loci associated with age at menarche. [PDF]
, 2015 More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance.
Altmaier, Elisabeth +124 more
core +18 more sources
The role of an ophthalmologist in the Alström syndrome diagnosis [PDF]
Vojnosanitetski Pregled, 2019 Introduction. The Alström syndrome (AS) is an extremely rare autosomal recessive genetic disorder, affecting fewer than 1: 1,000,000 people globally. It is a single gene disorder due to the mutation of ALMS1 on chromosome 2 (2p13).
Karadžić Jelena +3 more
doaj +1 more source
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. [PDF]
, 2013 Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated ...
Borman, Arundhati Dev +12 more
core +2 more sources
Future Journal of Pharmaceuticals and Health Sciences, 2023 Alström disease is a condition of autosomal recessive trait disorders that are characterized. At the same time, cone-rod spinal muscular atrophy, hearing impairment, adolescent upper abdominal overweight, insulin sensitivity but also insulin production, insulin-dependent, hypercholesterolemia, present approximately through sexual maturity, myocardial ...
openaire +1 more source
EBioMedicine, 2021 Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht +3 more
doaj +1 more source
The molecular basis of human retinal and vitreoretinal diseases [PDF]
, 2010 During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W +2 more
core +1 more source
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]
, 2014 Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
core +1 more source
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome [PDF]
, 2016 Background: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion.
Aymé, Ségolène +13 more
core +1 more source
Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management? [PDF]
, 2015 A goal of personalized medicine is to provide increasingly sophisticated, individualized approaches to management and therapy for disease. Genetics is the engine that drives personalized medicine, holding the promise of therapeutics directed toward the ...
Lee, Teresa M., Ware, Stephanie M.
core +1 more source
Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population [PDF]
, 2018 Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear.
A Forsberg +66 more
core +2 more sources