Tietz Syndrome Latest Advances

White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF.

Journal: Animal genetics

Published: February 17, 2023

Are dental anomalies associated with Tietz syndrome?

Journal: European journal of dermatology : EJD

Published: January 18, 2021

Hereditary Hearing Impairment with Cutaneous Abnormalities.

Journal: Genes

Published: November 21, 2020

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Journal: BioMed research international

Published: February 26, 2020

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Journal: Medicina (Kaunas, Lithuania)

Published: April 01, 2019

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Journal: American journal of medical genetics. Part A

Published: August 10, 2015

Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes

Journal: Postepy higieny i medycyny doswiadczalnej (Online)

Published: January 01, 2014

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

Journal: Human molecular genetics

Published: June 22, 2013

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

Journal: BMJ open

Published: March 21, 2013

Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.

Journal: Seminars in cell & developmental biology

Published: October 31, 2012

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

Journal: European journal of human genetics : EJHG

Published: January 20, 2012

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

Journal: PloS one

Published: September 13, 2011

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White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF.

White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF.

Are dental anomalies associated with Tietz syndrome?

Are dental anomalies associated with Tietz syndrome?

Hereditary Hearing Impairment with Cutaneous Abnormalities.

Hereditary Hearing Impairment with Cutaneous Abnormalities.

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes

Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes

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

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

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

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

Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.

Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.

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

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

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

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