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Authors: Aman George; Dina J Zand; Robert B Hufnagel; Ruchi Sharma; Yuri V Sergeev; Janet M Legare; Gregory M Rice; Jessica A Scott Schwoerer; Mariana Rius; Laura Tetri; David M Gamm; Kapil Bharti; Brian P Brooks
Journal: Am J Hum Genet Date: 2016-11-23 Impact factor: 11.025

3. Auditory brainstem response thresholds in a mouse mutant with selective outer hair cell loss.

Authors: A Schrott; K Stephan; H Spoendlin
Journal: Eur Arch Otorhinolaryngol Date: 1990 Impact factor: 2.503

Review 4. Inherited diseases of the inner ear in man in the light of studies on the mouse.

Authors: M S Deol
Journal: J Med Genet Date: 1968-06 Impact factor: 6.318

5. Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

Authors: Christina Ni; Deming Zhang; Lisa A Beyer; Karin E Halsey; Hideto Fukui; Yehoash Raphael; David F Dolan; Thomas J Hornyak
Journal: Pigment Cell Melanoma Res Date: 2012-11-16 Impact factor: 4.693

6. A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.

Authors: Nazanin Jalilian; Mohammad A Tabatabaiefar; Tayyeb Bahrami; Golaleh Karbasi; Mohammad H Bahramian; Abdolrahman Salimpoor; Mohammad R Noori-Daloii
Journal: Mol Syndromol Date: 2017-05-30

7. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Authors: Sandy Léger; Xavier Balguerie; Alice Goldenberg; Valérie Drouin-Garraud; Annick Cabot; Isabelle Amstutz-Montadert; Paul Young; Pascal Joly; Virginie Bodereau; Muriel Holder-Espinasse; Robyn V Jamieson; Amanda Krause; Hongsheng Chen; Clarisse Baumann; Luis Nunes; Hélène Dollfus; Michel Goossens; Véronique Pingault
Journal: Eur J Hum Genet Date: 2012-01-18 Impact factor: 4.246

A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance.

1. Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects.

2. Deafness as part of an hereditary syndrome.

3. A new hereditary syndrome--sex linked deafmutism associated with total albinism.

4. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Review 1. PROFOUND CHILDHOOD DEAFNESS.

2. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

3. Auditory brainstem response thresholds in a mouse mutant with selective outer hair cell loss.

Review 4. Inherited diseases of the inner ear in man in the light of studies on the mouse.

5. Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

6. A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.

7. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

8. Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

9. BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.

10. MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.