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Journal Abstract Search

236 related items for PubMed ID: 10851256

  • 1. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
    Smith SD, Kelley PM, Kenyon JB, Hoover D.
    J Med Genet; 2000 Jun; 37(6):446-8. PubMed ID: 10851256
    [Abstract] [Full Text] [Related]

  • 2. Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.
    Cortés-González V, Zenteno JC, Guzmán-Sánchez M, Giordano-Herrera V, Guadarrama-Vallejo D, Ruíz-Quintero N, Villanueva-Mendoza C.
    Am J Med Genet A; 2016 Dec; 170(12):3294-3297. PubMed ID: 27604145
    [Abstract] [Full Text] [Related]

  • 3. 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.
    Eur J Hum Genet; 2012 May; 20(5):584-7. PubMed ID: 22258527
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  • 4. 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.
    Pigment Cell Melanoma Res; 2013 Jan; 26(1):78-87. PubMed ID: 23020089
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  • 5. Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
    Lee M, Goodall J, Verastegui C, Ballotti R, Goding CR.
    J Biol Chem; 2000 Dec 01; 275(48):37978-83. PubMed ID: 10973953
    [Abstract] [Full Text] [Related]

  • 6. Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.
    Yamamoto K, Okamura K, Wakamatsu K, Ito S, Akabane K, Arai Y, Kawaguchi J, Hozumi Y, Suzuki T.
    Pigment Cell Melanoma Res; 2024 Jul 01; 37(4):430-437. PubMed ID: 38439523
    [Abstract] [Full Text] [Related]

  • 7. [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
    Otręba M, Miliński M, Buszman E, Wrześniok D, Beberok A.
    Postepy Hig Med Dosw (Online); 2013 Nov 26; 67():1109-18. PubMed ID: 24379252
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation in the MITF gene causes Waardenburg syndrome type 2.
    Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT.
    Genet Anal; 1996 Jul 26; 13(2):43-4. PubMed ID: 8880147
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  • 9. Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
    Yang T, Li X, Huang Q, Li L, Chai Y, Sun L, Wang X, Zhu Y, Wang Z, Huang Z, Li Y, Wu H.
    Clin Genet; 2013 Jan 26; 83(1):78-82. PubMed ID: 22320238
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  • 10. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
    Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH.
    Hum Mol Genet; 1997 May 26; 6(5):659-64. PubMed ID: 9158138
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  • 12. Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.
    Shigemura T, Shiohara M, Tanaka M, Takeuchi K, Koike K.
    J Pediatr Hematol Oncol; 2010 Aug 26; 32(6):442-7. PubMed ID: 20485200
    [Abstract] [Full Text] [Related]

  • 13. 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.
    Hum Mol Genet; 2013 Nov 01; 22(21):4357-67. PubMed ID: 23787126
    [Abstract] [Full Text] [Related]

  • 14. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
    Watanabe A, Takeda K, Ploplis B, Tachibana M.
    Nat Genet; 1998 Mar 01; 18(3):283-6. PubMed ID: 9500554
    [Abstract] [Full Text] [Related]

  • 15. MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.
    Yu R, Liu L, Li YL, Fan LL.
    Biomed Res Int; 2021 Mar 01; 2021():4381272. PubMed ID: 33506017
    [Abstract] [Full Text] [Related]

  • 16. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
    Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M.
    Am J Hum Genet; 1996 Jul 01; 59(1):76-83. PubMed ID: 8659547
    [Abstract] [Full Text] [Related]

  • 17. A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.
    Yang S, Wang C, Zhou C, Kang D, Zhang X, Yuan H.
    Mol Genet Genomic Med; 2020 Dec 01; 8(12):e1520. PubMed ID: 33045145
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