Associated Papers
Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss.
Ji H et al.
Acta Biochimica Et Biophysica Sinica, 2024
Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.
Sung CC et al.
Frontiers in Microbiology, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
Charfeddine C et al.
Plos One, 2021
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Pongor LS et al.
Scientific Reports, 2020
GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.
Adadey SM et al.
Experimental Biology and Medicine (maywood, N.j.), 2020
Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran.
Laleh MA et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2017
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
Li TC et al.
Molecular Medicine Reports, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.
Kooshavar D et al.
International Journal of Pediatric Otorhinolaryngology, 2013
Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.
Wu CC et al.
Plos One, 2013
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
Yang JJ et al.
Audiology & Neuro-otology, 2007
Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
Common JE et al.
The Journal of Investigative Dermatology, 2005
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
Richard G et al.
The Journal of Investigative Dermatology, 2003
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
López-Bigas N et al.
Human Mutation, 2002
A case of erythrokeratoderma variabilis without mutations in connexin 31.
Ishida-Yamamoto A et al.
The British Journal of Dermatology, 2000