Das Pendred-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im SLC26A4-Gen ausgelöst wird und durch eine Hypothyreose mit Struma und Schwerhörigkeit charakterisiert ist.
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Phelps PD et al. (1998) Radiological malformations of the ear in Pendred syndrome. |
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Desai KB et al. (1974) Thyroidal iodopriteins in Pendred's syndrome. |
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Ljunggren JG et al. (1973) The concentration of peroxidase in normal and adenomatous human thyroid tissue with special reference to patients with Pendred's syndrome. |
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Medeiros-Neto GA et al. (1968) Thyroidal iodoproteins in Pendred's syndrome. |
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Thompson J et al. (1970) A family with deafness, goitre, epilepsy and low intelligence segregating independently. |
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Bargman GJ et al. (1967) Otic lesions and congenital hypothyroidism in the developing chick. |
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Coyle B et al. (1996) Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. |
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Sheffield VC et al. (1996) Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. |
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Gausden E et al. (1996) Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome. |
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Gausden E et al. (1997) Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. |
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Coucke P et al. (1997) The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. |
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Yang T et al. (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). |
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Cremers WR et al. (1998) Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. |
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Reardon W et al. (1999) Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. |
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Reardon W et al. (2000) Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. |
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None (1957) A report of the occurrence of deaf-mutism and goiter in four of six siblings of a North American family. |
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None (1958) Familial association of nerve deafness with nodular goiter and thyroid carcinoma. |
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FRASER GR et al. (1960) The syndrome of sporadic goitre and congenital deafness. |
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BATSAKIS JG et al. (1962) Deafness with sporadic goiter. Pendred's syndrome. |
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HOLLANDER CS et al. (1964) CONGENITAL DEAFNESS AND GOITER. STUDIES OF A PATIENT WITH A COCHLEAR DEFECT AND INADEQUATE FORMATION OF IODOTHYRONINES. |
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None (1965) ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES. |
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STANBURY JB et al. (1950) A study of a family of goitrous cretins. |
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Illum P et al. (1972) Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter. |
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Park SM et al. (2005) Genetics of congenital hypothyroidism. |
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Everett LA et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). |
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Campbell C et al. (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. |
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Reardon W et al. (1997) Pendred syndrome--100 years of underascertainment? |
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Kopp P et al. (1999) Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. |
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Masmoudi S et al. (2000) Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. |
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Fugazzola L et al. (2000) Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. |
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Everett LA et al. (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. |
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Royaux IE et al. (2001) Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. |
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Massa G et al. (2003) Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. |
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Pourová R et al. (2010) Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). |
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Cave WT et al. (1975) Studies on the thyroidal defect in an atypical form of Pendred's syndrome. |
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van Wouwe JP et al. (1986) A patient with dup(10p)del(8q) and Pendred syndrome. |
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Gomez-Pan A et al. (1974) Pituitary-thyroid function in Pendred's syndrome. |
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Furth ED et al. (1967) Familial goiter due to an organification defect in euthyroid siblings. |
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Milutinovic PS et al. (1969) Thyroid function in a family with the Pendred syndrome. |
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Burrow GN et al. (1973) Normal peroxidase activity in Pendred's syndrome. |
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OMIM.ORG article Omim 274600 |
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Orphanet article Orphanet ID 705 |
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Wikipedia Artikel Wikipedia DE (Pendred-Syndrom) |