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 *

148 related articles for article (PubMed ID: 38419387)

  • 21. A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
    Li Z; Xu K; Zhou Z; Liang C; Gu W; Ran J
    Mol Biol Rep; 2024 Apr; 51(1):536. PubMed ID: 38642155
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.
    Ma J; Lin K; Jiang HC; Yang Y; Zhang Y; Yang G; Sun H; Ming C; Bi X; Zhang T; Ruan B
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00798. PubMed ID: 31190477
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.
    Li H; Jin P; Hao Q; Zhu W; Chen X; Wang P
    Genet Test Mol Biomarkers; 2017 Nov; 21(11):681-685. PubMed ID: 29045167
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [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]  

  • 25. Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
    Ma J; Zhang TS; Lin K; Sun H; Jiang HC; Yang YL; Low F; Gao YQ; Ruan B
    Int J Pediatr Otorhinolaryngol; 2016 Jun; 85():56-61. PubMed ID: 27240497
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.
    Guo M; Li Q; Jiang C; Li S; Ruan B
    J Int Adv Otol; 2023 Jun; 19(3):255-259. PubMed ID: 37272645
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Analysis of genetic variation in patients with Waardenburg syndrome type Ⅱ by next generation sequencing].
    Ren SM; Kong XD; Wu QH; Jiao ZH; Chen C; Qin ZB
    Zhonghua Yi Xue Za Zhi; 2020 Mar; 100(11):853-858. PubMed ID: 32234158
    [No Abstract]   [Full Text] [Related]  

  • 28. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
    Chen H; Jiang L; Xie Z; Mei L; He C; Hu Z; Xia K; Feng Y
    Biochem Biophys Res Commun; 2010 Jun; 397(1):70-4. PubMed ID: 20478267
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.
    Chen K; Zong L; Zhan Y; Wu X; Liu M; Jiang H
    Int J Pediatr Otorhinolaryngol; 2015 May; 79(5):745-8. PubMed ID: 25817900
    [TBL] [Abstract][Full Text] [Related]  

  • 30. SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
    Jalilian N; Tabatabaiefar MA; Alimadadi H; Noori-Daloii MR
    Int J Pediatr Otorhinolaryngol; 2017 May; 96():122-126. PubMed ID: 28390600
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.
    Alehabib E; Alinaghi S; Pourfatemi F; Darvish H
    Int J Pediatr Otorhinolaryngol; 2020 Aug; 135():110014. PubMed ID: 32422366
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].
    Chen Y; Yang F; Zheng H; Zhu G; Hu P; Wu W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):810-3. PubMed ID: 26663054
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
    Burke EA; Reichard KE; Wolfe LA; Brooks BP; DiGiovanna JJ; Hadley DW; Lehky TJ; Gropman AL; Tifft CJ; Gahl WA; Toro C; Adams D
    Am J Med Genet A; 2020 May; 182(5):1278-1283. PubMed ID: 32150337
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss].
    Zhou C; Liu X; Song Q; Li S; Zhong S; Shen H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 May; 36(5):477-479. PubMed ID: 31030437
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and genetic investigation of families with type II Waardenburg syndrome.
    Chen Y; Yang F; Zheng H; Zhou J; Zhu G; Hu P; Wu W
    Mol Med Rep; 2016 Mar; 13(3):1983-8. PubMed ID: 26781036
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.
    Moldenæs MF; Rendtorff ND; Hindbæk LS; Tørring PM; Nilssen Ø; Tranebjærg L
    Eur J Med Genet; 2021 Sep; 64(9):104265. PubMed ID: 34171448
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A Novel
    Li S; Guo M; Ruan B; Liu Y; Cui X; Han W; Li R
    Genet Test Mol Biomarkers; 2020 May; 24(5):249-255. PubMed ID: 32250160
    [No Abstract]   [Full Text] [Related]  

  • 39. A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.
    Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y
    Sci Rep; 2017 Jan; 7():41513. PubMed ID: 28128317
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
    Wang L; Mao L; Xu H; Sun S; Zuo B; Lu W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):661-667. PubMed ID: 37211999
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.