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Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report. [PDF]
Clin Pediatr EndocrinolMiura A +7 more
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Carrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia. [PDF]
JBRA Assist ReprodIdárraga GDO +5 more
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Pediatric endocrinology reviews : PER, 2006
Pendred Syndrome, first described in 1896, is phenotypically characterized as the coexistence of sensorineural deafness and enlarged goiter with elevated iodine discharge after perchlorate administration. In 1996 the syndrome was mapped to chromosome 7 and the following year, the responsible gene was cloned and mutations were identified. The gene, pds,
Sameer Kassem, Benjamin Glaser
+7 more sources
Pendred Syndrome, first described in 1896, is phenotypically characterized as the coexistence of sensorineural deafness and enlarged goiter with elevated iodine discharge after perchlorate administration. In 1996 the syndrome was mapped to chromosome 7 and the following year, the responsible gene was cloned and mutations were identified. The gene, pds,
Sameer Kassem, Benjamin Glaser
+7 more sources
UP STATE JOURNAL OF OTOLARYNGOLOGY AND HEAD AND NECK SURGERY, 2023
INTRODUCTION The clinical symptom of severe SNHL or deafness in children has a genetic background in about 65%of the cases, with 85% of them in a nonsyndromic appearance.
Neha Gupta
semanticscholar +1 more source
INTRODUCTION The clinical symptom of severe SNHL or deafness in children has a genetic background in about 65%of the cases, with 85% of them in a nonsyndromic appearance.
Neha Gupta
semanticscholar +1 more source
Best Practice & Research Clinical Endocrinology & Metabolism, 2017
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged ...
Jean-Louis, Wémeau, Peter, Kopp
openaire +2 more sources
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged ...
Jean-Louis, Wémeau, Peter, Kopp
openaire +2 more sources
Vestibular Function in Pendred Syndrome: Intact High Frequency VOR and Saccular Hypersensitivity
Otology and Neurotology, 2021Objective: Although Pendred syndrome involves anatomical abnormalities in the vestibular system and patient-perceived dizziness, the literature on vestibular function is scarce. The objective was to evaluate objective vestibular function in patients with
Niels West +2 more
semanticscholar +1 more source
Indian Journal of Otolaryngology, 1978
A case of Pendred’s syndrome is described. It appears that Pendred’s syndrome is due to the Pleotropic effect of one gene.
Lata Mehta +5 more
openaire +4 more sources
A case of Pendred’s syndrome is described. It appears that Pendred’s syndrome is due to the Pleotropic effect of one gene.
Lata Mehta +5 more
openaire +4 more sources
Expert Review of Endocrinology & Metabolism, 2008
Pendred syndrome (PDS) is an autosomal recessive disorder clinically characterized by sensorineural hearing loss and goiter. PDS is mainly caused by mutations in the SLC26A4 gene, although a few cases are due to mutations in the FOXI1 gene. SLC26A4 encodes pendrin, a sodium-independent transporter of iodide/chloride, chloride/formate and bicarbonate ...
openaire +3 more sources
Pendred syndrome (PDS) is an autosomal recessive disorder clinically characterized by sensorineural hearing loss and goiter. PDS is mainly caused by mutations in the SLC26A4 gene, although a few cases are due to mutations in the FOXI1 gene. SLC26A4 encodes pendrin, a sodium-independent transporter of iodide/chloride, chloride/formate and bicarbonate ...
openaire +3 more sources