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Related: Inner Ear Syndromes  Special Child Disorder Zone Archives  Mondini Syndrome  Hearing Loss in the Classroom  Pendragon Medical  Eva Syndrome  Side Effects of Pendred Syndrome  Signs of Pendred Syndrome 

Results 11 - 20 for Pendred's syndrome

Phenocopies for Deafness and Goiter Development in a Large Inbred ...
Phenocopies for Deafness and Goiter Development in a Large Inbred Brazilian Kindred with Pendreds Syndrome Associated with a Novel Mutation in the PDS Gene 1
http://jcem.endojournals.org/cgi/content/abstract/84/1/336
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Pendred's
Pendreds Syndrome . Pendred's Syndrome is also known as Goiter with profound congenital sensorineural deafness. Clinical Findings. Characteristics — Hereditary pattern is ...
http://www.hearform.com/articles/pendred's.htm
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Deafness, Hypothyroidism, and Pendred's Syndrome -- BARGMAN and ...
Deafness, Hypothyroidism, and Pendred's Syndrome GERALD J. BARGMAN M.D. 1 and LYTT I. GARDNER M.D. 2. 1 Postdoctoral trainee, National Institute of Arthritis and Metabolic Diseases
http://pediatrics.aappublications.org/cgi/content/abstract/40/6/1063
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Journal of Human Genetics - Abstract of article: SLC26A4 mutation ...
Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene encoding pendrin ...
http://www.nature.com/doifinder/10.1038/jhg.2009.21
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Pendred syndrome is caused by mutations in a putative sulphate ...
The variable intrafamiliar expressivity in Pendred's syndrome. Clin. Otolaryngol. 14, 395−399 (1989). | PubMed | ISI | ChemPort | Mondini, C. Anatomia surdi nati sectio: De ...
http://www.nature.com/doifinder/10.1038%2Fng1297-411
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Enlarged Vestibular Aqueduct Syndrome in the Pediatric Population
Enlarged Vestibular Aqueduct Syndrome in the Pediatric Population from the Grand ... The gene has been mapped to the long arm of chromosome 7 in Pendreds syndrome and has been ...
http://www.bcm.edu/oto/grand/08_19_04.htm
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Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an ...
Fraser GR 1965 Association of congenital deafness with goitre (Pendreds syndrome): a study of 207 families. Ann Hum Genet 28:201–249; Mondini C 1791 Anatpmoa sirdo mat sectop.
http://endo.endojournals.org/cgi/content/full/141/2/839
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Enlarged vestibular aqueduct: a radiological marker of Pendred ...
Association of congenital deafness with goitre (Pendred's syndrome). Ann Hum Genet 1965; 28:201–48. [Web of Science] 16. Reardon W, Coffey R, Chowdhury T, Grossman A, Britton K ...
http://qjmed.oxfordjournals.org/cgi/content/full/93/2/99
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Functional characterization of wild-type and mutated pendrin (SLC26A4 ...
Pendred's syndrome. Archives of Otolaryngology 76 401–406. [Abstract/ Free Full Text] Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M ...
http://jme.endocrinology-journals.org/cgi/content/full/43/3/93
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Hot Thyroidology - Journal owned by the European Thyroid Association
Editorials on cutting edge and controversial topics ... PENDREDS SYNDROME: FROM GENOTYPE TO PHENOTYPE Laura Fugazzola
http://www.hotthyroidology.com/editorial_163.html
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