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Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
Smith SD, Kelley PM, Kenyon JB, Hoover D. Smith SD, et al. J Med Genet. 2000 Jun;37(6):446-8. doi: 10.1136/jmg.37.6.446. J Med Genet. 2000. PMID: 10851256 Free PMC article.
Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. ...This family was reascertained and a missense mutation was found in the basic region of the MITF gene in fam …
Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetran …
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.
Ni C, Zhang D, Beyer LA, Halsey KE, Fukui H, Raphael Y, Dolan DF, Hornyak TJ. Ni C, et al. Pigment Cell Melanoma Res. 2013 Jan;26(1):78-87. doi: 10.1111/pcmr.12030. Epub 2012 Nov 16. Pigment Cell Melanoma Res. 2013. PMID: 23020089 Free PMC article.
The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. ...These findings may provide insight into the mechanism of melanocyte and he …
The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound …
MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.
Yu R, Liu L, Li YL, Fan LL. Yu R, et al. Biomed Res Int. 2021 Jan 11;2021:4381272. doi: 10.1155/2021/4381272. eCollection 2021. Biomed Res Int. 2021. PMID: 33506017 Free PMC article.
Waardenburg syndrome (WS) is a group of rare genetic disorders characterized by hearing loss, changes in coloring of hair, skin, and eyes, and alterations in the shape of the face. Tietz syndrome is another rare disorder which presented similar phenotypes to WS. Pat …
Waardenburg syndrome (WS) is a group of rare genetic disorders characterized by hearing loss, changes in coloring of hair, skin, and eyes, a …
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V. Léger S, et al. Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258527 Free PMC article.
A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and …
A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is ch …
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. Amiel J, et al. Clin Dysmorphol. 1998 Jan;7(1):17-20. Clin Dysmorphol. 1998. PMID: 9546825
A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported. An in-frame deletion of the MITF gene that is identical at the molecular level to the mouse mi mutant allele has been found in this family. ...
A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported. An in- …
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
Grill C, Bergsteinsdóttir K, Ogmundsdóttir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrímsson E. Grill C, et al. Hum Mol Genet. 2013 Nov 1;22(21):4357-67. doi: 10.1093/hmg/ddt285. Epub 2013 Jun 20. Hum Mol Genet. 2013. PMID: 23787126 Free PMC article.
Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS). Additionally, both somatic and germline mutations have been found in MITF in melanoma …
Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome …
Are dental anomalies associated with Tietz syndrome?
Kantaputra PN, Intachai W, Carlson B, Olsen B, Ngaohirunphat S, Sri-Oon J, Ketudat Cairns JR, Choovuthayakorn J. Kantaputra PN, et al. Eur J Dermatol. 2020 Dec 1;30(6):734-736. doi: 10.1684/ejd.2020.3905. Eur J Dermatol. 2020. PMID: 33459262 No abstract available.
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.
Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P. Gironi LC, et al. Medicina (Kaunas). 2019 Jul 7;55(7):345. doi: 10.3390/medicina55070345. Medicina (Kaunas). 2019. PMID: 31284637 Free PMC article.
These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Tietz syndrome, and piebaldism. APDs are part of the neurocristopathies, a group of congeni …
These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg s …
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism.
Chiang PW, Spector E, McGregor TL. Chiang PW, et al. Am J Med Genet A. 2009 Dec;149A(12):2739-44. doi: 10.1002/ajmg.a.33128. Am J Med Genet A. 2009. PMID: 19938076
The clinical presentation of WS is highly variable, and we believe that Tietz syndrome and WS2 with ocular albinism (OA) are likely two variations of WS2 due to the presence of modifiers. ...
The clinical presentation of WS is highly variable, and we believe that Tietz syndrome and WS2 with ocular albinism (OA) are l …