Literature DB >> 18510545

Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal.

K Izumi, T Kohta, Y Kimura, S Ishida, T Takahashi, A Ishiko, K Kosaki.   

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Year:  2008        PMID： 18510545     DOI： 10.1111/j.1399-0004.2008.01010.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  13 in total

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

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

Review 2.  The etiology and molecular genetics of human pigmentation disorders.

Authors:  Laura L Baxter; William J Pavan
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2012-05-17       Impact factor: 5.814

3.  [Hereditary pigmentary disorders].

Authors:  K Giehl; M Braun-Falco
Journal:  Hautarzt       Date:  2010-07       Impact factor: 0.751

4.  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

5.  Immune-Related Oral, Otologic, and Ocular Adverse Events.

Authors:  Nagham Al-Zubidi; J Cody Page; Dan S Gombos; Akanksha Srivastava; Eric Appelbaum; Paul W Gidley; Mark S Chambers; Marc-Elie Nader
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 6.  Neural crest contributions to the ear: Implications for congenital hearing disorders.

Authors:  K Elaine Ritter; Donna M Martin
Journal:  Hear Res       Date:  2018-11-14       Impact factor: 3.208

7.  A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.

Authors:  Ute Philipp; Bettina Lupp; Stefanie Mömke; Veronika Stein; Andrea Tipold; Johanna Corinna Eule; Jürgen Rehage; Ottmar Distl
Journal:  PLoS One       Date:  2011-12-12       Impact factor: 3.240

8.  Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.

Authors:  Jie Sun; Ziqi Hao; Hunjin Luo; Chufeng He; Lingyun Mei; Yalan Liu; Xueping Wang; Zhijie Niu; Hongsheng Chen; Jia-Da Li; Yong Feng
Journal:  J Hum Genet       Date:  2017-03-30       Impact factor: 3.172

9.  Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

Authors:  Gabriele Wildhardt; Birgit Zirn; Luitgard M Graul-Neumann; Juliane Wechtenbruch; Markus Suckfüll; Annegret Buske; Axel Bohring; Christian Kubisch; Stefanie Vogt; Gertrud Strobl-Wildemann; Marie Greally; Oliver Bartsch; Daniela Steinberger
Journal:  BMJ Open       Date:  2013-03-18       Impact factor: 2.692

10.  Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

Authors:  Shuzhi Yang; Pu Dai; Xin Liu; Dongyang Kang; Xin Zhang; Weiyan Yang; Chengyong Zhou; Shiming Yang; Huijun Yuan
Journal:  PLoS One       Date:  2013-10-23       Impact factor: 3.240
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