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Related: Results 51 - 60 for Pendred's syndromeClinical Q and A, Parkhurst Exchange, Endocrinology, Hearing loss with ...Deafness is also associated with Pendred's syndrome of congenital hypothyroidism and with thyroid hormone resistance. In these cases, however, hormone replacement doesn't improve ... http://www.parkhurstexchange.com/endocrinology/2004-09-20 open pop Pendrin: an apical Cl{-}/OH{-}/HCO3{-} exchanger in the kidney cortex ... Kopp, P. Pendred's syndrome: identification of the genetic defect a century after its recognition. Thyroid 9: 65-69, 1999 [Web of Science]. 21. Kopp, P, Arseven OK, Sabacan L, Kotlar ... http://ajprenal.physiology.org/cgi/content/full/280/2/F356 open pop Pendrin: an apical Cl{-}/OH{-}/HCO3{-} exchanger in the kidney cortex ... Pendrin (PDS), which is expressed at high levels in the thyroid and its mutation causes Pendred's syndrome, is shown to be an anion exchanger. We investigated the renal distribution ... http://ajprenal.physiology.org/cgi/content/abstract/280/2/F356 open pop 2009 ICD-9-CM Diagnosis Code 243 : Congenital hypothyroidism Pendred's syndrome (familial goiter with deaf-mutism) 243. Subthyroidism (acquired) (see also Hypothyroidism) 244.9. congenital 243. Syndrome - see also Disease http://www.icd9data.com/2009/Volume1/240-279/240-246/243/243.htm open pop Science News Online (1/17/98): Genes of Silence: Scientists track ... Take Pendred's syndrome, perhaps the most common syndromic cause of hereditary hearing loss. Usually born deaf, though the hearing loss sometimes occurs during ... http://www.sciencenews.org/pages/sn_arc98/1_17_98/bob1.htm open pop Hypermethylation of the Pendred Syndrome Gene SLC26A4 Is an Early ... Kopp P. Pendred’s syndrome: identification of the genetic defect a century after its recognition.. Thyroid, 9: 65-69, 1999. Everett L. A., Glaser B., Beck J. C., Idol J. R., Buchs ... http://cancerres.aacrjournals.org/cgi/content/full/63/9/2312 open pop Arch Otolaryngol Head Neck Surg -- The Influence of Mutations in the ... Expression pattern of the mouse ortholog of the Pendred's syndrome gene (SLC26A4) suggest a key role for pendrin in the inner ear. Proc Natl Acad Sci U S A. 1999;96:9727-9732. http://archotol.ama-assn.org/cgi/content/full/133/2/162 open pop SLC26A4 Gene - GeneCards | S26A4 Protein | S26A4 Antibody Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene ... http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A4 open pop Guillain Barre syndrome - acute inflammatory polyneuropathy: Treatment ... The Surgery Door guide to the symptoms, diagnosis and treatment of Guillain Barre syndrome - acute inflammatory polyneuropathy, written by UK doctors and medical experts. http://www.surgerydoor.co.uk/advice/diseases/guillain-barre-syndrome-acute-inflammatory-polyneuropathy/ open pop First Sounds - Infant Hearing Loss Facts Pendred's syndrome is a recessive endocrine-metabolic disorder characterized by goiter formation and results in a moderate to profound sensorineural hearing loss that is usually ... http://www.ndcpd.org/projects/1stsounds/facts.html open pop |
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