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 *

180 related articles for article (PubMed ID: 9482647)

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

  • 22. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene).
    Lu-Kuo J; Ward DC; Spritz RA
    Genomics; 1993 Apr; 16(1):173-9. PubMed ID: 8486353
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
    Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Emamdjomeh H; Noori-Daloii MR
    Gene; 2015 Dec; 574(2):302-7. PubMed ID: 26275939
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation.
    Borg I; Squire M; Menzel C; Stout K; Morgan D; Willatt L; O'Brien PC; Ferguson-Smith MA; Ropers HH; Tommerup N; Kalscheuer VM; Sargan DR
    J Med Genet; 2002 Jun; 39(6):391-9. PubMed ID: 12070244
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
    Tassabehji M; Read AP; Newton VE; Patton M; Gruss P; Harris R; Strachan T
    Nat Genet; 1993 Jan; 3(1):26-30. PubMed ID: 8490648
    [TBL] [Abstract][Full Text] [Related]  

  • 26. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
    Tassabehji M; Newton VE; Leverton K; Turnbull K; Seemanova E; Kunze J; Sperling K; Strachan T; Read AP
    Hum Mol Genet; 1994 Jul; 3(7):1069-74. PubMed ID: 7981674
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.
    Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Noori-Daloii MR
    Int J Pediatr Otorhinolaryngol; 2015 Oct; 79(10):1736-40. PubMed ID: 26279250
    [TBL] [Abstract][Full Text] [Related]  

  • 28. EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
    Li C; Chen R; Fan X; Luo J; Qian J; Wang J; Xie B; Shen Y; Chen S
    BMC Med Genet; 2015 Apr; 16():23. PubMed ID: 25928000
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
    Trabelsi M; Nouira M; Maazoul F; Kraoua L; Meddeb R; Ouertani I; Chelly I; Benoit V; Besbes G; Mrad R
    Int J Pediatr Otorhinolaryngol; 2017 Dec; 103():14-19. PubMed ID: 29224756
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Clinical and molecular genetic investigation of Waardenburg syndrome type 1].
    Markova TG; Megrelishvilli SM; Shevtsov SP; Shvarts EI
    Vestn Otorinolaringol; 2003; (1):17-9. PubMed ID: 12666593
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.
    Matsunaga T; Mutai H; Namba K; Morita N; Masuda S
    Acta Otolaryngol; 2013 Apr; 133(4):345-51. PubMed ID: 23163891
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
    Wollnik B; Tukel T; Uyguner O; Ghanbari A; Kayserili H; Emiroglu M; Yuksel-Apak M
    Am J Med Genet A; 2003 Sep; 122A(1):42-5. PubMed ID: 12949970
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Disease and development.
    Walter MA; Goodfellow PN
    Nature; 1992 Feb; 355(6361):590-1. PubMed ID: 1538745
    [No Abstract]   [Full Text] [Related]  

  • 34. Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
    Carey ML; Friedman TB; Asher JH; Innis JW
    J Med Genet; 1998 Mar; 35(3):248-50. PubMed ID: 9541113
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.
    Morell R; Friedman TB; Asher JH
    Hum Mol Genet; 1993 Sep; 2(9):1487-8. PubMed ID: 7902163
    [No Abstract]   [Full Text] [Related]  

  • 36. A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.
    Wang C; Kim E; Attaie A; Smith TN; Wilcox ER; Lalwani AK
    Mol Cell Probes; 1998 Feb; 12(1):55-7. PubMed ID: 9584079
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Waardenburg syndrome and myelomeningocele in a family.
    Chatkupt S; Chatkupt S; Johnson WG
    J Med Genet; 1993 Jan; 30(1):83-4. PubMed ID: 8423616
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
    Hoth CF; Milunsky A; Lipsky N; Sheffer R; Clarren SK; Baldwin CT
    Am J Hum Genet; 1993 Mar; 52(3):455-62. PubMed ID: 8447316
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.
    Qin W; Shu A; Qian X; Gao J; Xing Q; Zhang J; Zheng Y; Li X; Li S; Feng G; He L
    Mol Vis; 2006 Aug; 12():1001-8. PubMed ID: 16971891
    [TBL] [Abstract][Full Text] [Related]  

  • 40. First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.
    Saberi M; Golchehre Z; Salmani H; Karamzade A; Tabatabaie SZ; Keramatipour M
    Int J Pediatr Otorhinolaryngol; 2018 Oct; 113():229-233. PubMed ID: 30173992
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.