Associated Papers
Genetic variants associated with diseases in Afghan population.
Zadran SK et al.
Molecular Genetics & Genomic Medicine, 2021
33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1
A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts.
You Y et al.
Scientific Reports, 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne C et al.
Plos One, 2021
34843512 (PubMed )
Supplement: pone.0259185.s010.xlsx › Tabelle1
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J et al.
Molecular Vision, 2019
Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.
Jiao X et al.
Plos One, 2019
Novel mutations in HSF4 cause congenital cataracts in Chinese families.
Cao Z et al.
Bmc Medical Genetics, 2018
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
Berry V et al.
Eye (london, England), 2018
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Anand D et al.
Human Mutation, 2018
Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops).
Magwebu ZE et al.
Journal of Medical Primatology, 2018
A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.
Behnam M et al.
Journal of Human Genetics, 2016
Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts.
Merath K et al.
Investigative Ophthalmology & Visual Science, 2013
Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
Chograni M et al.
Bmc Ophthalmology, 2011
Advancement of congenital cataract in the responsible gene.
Peng L et al.
International Journal of Ophthalmology, 2010
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
Sajjad N et al.
Bmc Medical Genetics, 2008
Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd.
Mellersh CS et al.
Veterinary Ophthalmology, 0
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