Results 41 to 50 of about 2,252,434 (232)
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. [PDF]
BMC Med Genet, 2013 Ganaha A +6 more
europepmc +3 more sources
The Diverse Genetic Landscape of Hearing Impairment in South African Families. [PDF]
Clin GenetSouth African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Bharadwaj T +10 more
europepmc +2 more sources
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the gene [PDF]
Korean Journal of Pediatrics, 2010 Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and
Won Ik Choi +3 more
doaj +1 more source
A Family of H723R Mutation for Associated with Enlarged Vestibular Aqueduct Syndrome [PDF]
Clinical and Experimental Otorhinolaryngology, 2009 Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791).
SungHee Kim +8 more
doaj +1 more source
Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]
, 2015 Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina +5 more
core +2 more sources
Iraqi National Journal of Medicine, 2022 Background: Pseudo-Pendred syndrome (PPS) is a genetic disorder inherited as an autosomal recessive disorder. PPS is characterized by the presence of hypothyroid goiter combined with mild to moderate form of SNHL, not presentable at birth, with no ...
Haider Saeed, Mohammed Al-Hamadani
semanticscholar +1 more source
Genetic Factors That Might Lead to Different Responses in Individuals Exposed to Perchlorate [PDF]
, 2005 Perchlorate has been detected in groundwater in many parts of the United States, and recent detection in vegetable and dairy food products indicates that contamination by perchlorate is more widespread than previously thought.
Fowler, Bruce A. +4 more
core +2 more sources
Annals of Otology, Rhinology & Laryngology, 1993 Although 5% of all cases of congenital deafness are caused by Pendred's syndrome, there are few reports in the literature. Seven patients with Pendred's syndrome in three families living in the same village were detected. For that reason, the syndrome is reviewed in light of the literature.
DOGAN, Mustafa +4 more
openaire +7 more sources