These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

68 related articles for article (PubMed ID: 24532487)

  • 1. Disease-causing enhancer variants: a question of penetrance.
    Ottolenghi S
    Hum Mutat; 2014 Mar; 35(3):v. PubMed ID: 24532487
    [No Abstract]   [Full Text] [Related]  

  • 2. An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease.
    Lecerf L; Kavo A; Ruiz-Ferrer M; Baral V; Watanabe Y; Chaoui A; Pingault V; Borrego S; Bondurand N
    Hum Mutat; 2014 Mar; 35(3):303-7. PubMed ID: 24357527
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
    Viñuela A; Morín M; Villamar M; Morera C; Lavilla MJ; Cavallé L; Moreno-Pelayo MA; Moreno F; del Castillo I
    Am J Med Genet A; 2009 Oct; 149A(10):2296-302. PubMed ID: 19764030
    [No Abstract]   [Full Text] [Related]  

  • 4. [Research progress in roles of SOX10 gene in Waardenburg syndrome].
    Zhang H; Feng Y
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2013 Dec; 48(12):1043-6. PubMed ID: 24507010
    [No Abstract]   [Full Text] [Related]  

  • 5. A de novo SOX10 mutation in a patient with Waardenburg syndrome type IV.
    Jung HJ; Jin SA; Choi SJ; Lee SC; Yun SJ
    J Am Acad Dermatol; 2013 Jun; 68(6):e177-8. PubMed ID: 23680208
    [No Abstract]   [Full Text] [Related]  

  • 6. Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.
    Bogdanova-Mihaylova P; Alexander MD; Murphy RPJ; Murphy SM
    J Peripher Nerv Syst; 2017 Sep; 22(3):219-223. PubMed ID: 28544110
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.
    Izumi Y; Musha I; Suzuki E; Iso M; Jinno T; Horikawa R; Amemiya S; Ogata T; Fukami M; Ohtake A
    Endocrine; 2015 Jun; 49(2):553-6. PubMed ID: 25273316
    [No Abstract]   [Full Text] [Related]  

  • 8. Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene.
    Oshimo T; Fukai K; Abe Y; Hozumi Y; Yokoi T; Tanaka A; Yamanishi K; Ishii M; Suzuki T
    J Dermatol; 2012 Dec; 39(12):1022-5. PubMed ID: 22963253
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene.
    Okamura K; Oiso N; Tamiya G; Makino S; Tsujioka D; Abe Y; Kawaguchi M; Hozumi Y; Shimomura Y; Suzuki T
    J Dermatol; 2015 Dec; 42(12):1211-2. PubMed ID: 26364794
    [No Abstract]   [Full Text] [Related]  

  • 10. Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.
    Hemmi A; Okamura K; Tazawa R; Abe Y; Hayashi M; Izumi S; Tohyama J; Shimomura Y; Hozumi Y; Suzuki T
    J Dermatol; 2018 May; 45(5):e110-e111. PubMed ID: 29168219
    [No Abstract]   [Full Text] [Related]  

  • 11. Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.
    Ito Y; Inoue N; Inoue YU; Nakamura S; Matsuda Y; Inagaki M; Ohkubo T; Asami J; Terakawa YW; Kohsaka S; Goto Y; Akazawa C; Inoue T; Inoue K
    Neurobiol Dis; 2015 Aug; 80():1-14. PubMed ID: 25959061
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
    Happle R
    Am J Med Genet A; 2021 Apr; 185(4):1304-1306. PubMed ID: 33438357
    [No Abstract]   [Full Text] [Related]  

  • 13. Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.
    Arimoto Y; Namba K; Nakano A; Matsunaga T
    Gene; 2014 May; 540(2):258-62. PubMed ID: 24582978
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
    Toki F; Suzuki N; Inoue K; Suzuki M; Hirakata K; Nagai K; Kuroiwa M; Lupski JR; Tsuchida Y
    Pediatr Surg Int; 2003 Dec; 19(11):725-8. PubMed ID: 14691634
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].
    Zheng L; Yan Y; Chen X; Zhang C; Zhang Q; Feng X; Hao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):81-83. PubMed ID: 29419867
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
    Verheij JB; Sival DA; van der Hoeven JH; Vos YJ; Meiners LC; Brouwer OF; van Essen AJ
    Eur J Paediatr Neurol; 2006 Jan; 10(1):11-7. PubMed ID: 16504559
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.
    Siomou E; Manolakos E; Petersen M; Thomaidis L; Gyftodimou Y; Orru S; Papoulidis I
    Eur J Med Genet; 2012 Nov; 55(11):641-5. PubMed ID: 22842075
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.
    Wang XP; Hao ZQ; Liu YL; Mei LY; He CF; Niu ZJ; Sun J; Zhao YL; Feng Y
    Biochem Biophys Res Commun; 2017 Nov; 493(1):258-262. PubMed ID: 28893539
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical and genetic investigation of families with Waardenburg syndrome type 2].
    Chen HS; Liao XB; Liu YL; He CF; Zhang H; Jiang L; Feng Y; Mei LY
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Dec; 30(24):1946-1949. PubMed ID: 29798271
    [No Abstract]   [Full Text] [Related]  

  • 20. Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV.
    Wang HH; Chen HS; Li HB; Zhang H; Mei LY; He CF; Wang XW; Men MC; Jiang L; Liao XB; Wu H; Feng Y
    Gene; 2014 Mar; 538(1):36-41. PubMed ID: 24440785
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.