Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome-Reference-Cited by-同舟云学术

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Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Published:2013-05-24 Issue:1 Volume:14 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Ganaha Akira,Kaname Tadashi,Yanagi Kumiko,Naritomi Kenji,Tono Tetsuya,Usami Shin-ichi,Suzuki Mikio

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-14-56.pdf

Reference48 articles.

1. Downs MP: Universal newborn hearing screening–the Colorado story. Int J Pediatr Otorhinolaryngol. 1995, 32: 257-259. 10.1016/0165-5876(95)01183-C.

2. Mehl AL, Thomson V: Newborn hearing screening: the great omission. Pediatrics. 1998, 101: E4-

3. Mehl AL, Thomson V: The Colorado newborn hearing screening project, 1992–1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics. 2002, 109: E7-10.1542/peds.109.1.e7.

4. Bitner-Glindzicz M: Hereditary deafness and phenotyping in humans. Br Med Bull. 2002, 63: 73-94. 10.1093/bmb/63.1.73.

5. Morton NE: Genetic epidemiogy of hearing impairment. Ann NY Acad Sci. 1991, 630: 16-31. 10.1111/j.1749-6632.1991.tb19572.x.

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1. Syndromic Hearing Loss in Children;Neuroimaging Clinics of North America;2023-11

2. Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip;Journal of Clinical Medicine;2022-02-19

3. Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants;Molecular Medicine;2016-01

4. Syndromes de Pendred et surdités apparentées: une même entité?;Bulletin de l'Académie Nationale de Médecine;2015-04

5. Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct;Thyroid;2014-04

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