183 related articles for article (PubMed ID: 7726174)
1. Homozygosity for Waardenburg syndrome.
Zlotogora J; Lerer I; Bar-David S; Ergaz Z; Abeliovich D
Am J Hum Genet; 1995 May; 56(5):1173-8. PubMed ID: 7726174
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. The value of MLPA in Waardenburg syndrome.
Milunsky JM; Maher TA; Ito M; Milunsky A
Genet Test; 2007; 11(2):179-82. PubMed ID: 17627390
[TBL] [Abstract][Full Text] [Related]
5. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.
Baldwin CT; Hoth CF; Macina RA; Milunsky A
Am J Med Genet; 1995 Aug; 58(2):115-22. PubMed ID: 8533800
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).
Attaie A; Kim E; Wilcox ER; Lalwani AK
Mol Cell Probes; 1997 Jun; 11(3):233-6. PubMed ID: 9232624
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.
Sotirova VN; Rezaie TM; Khoshsorour MM; Sarfarazi M
Ophthalmic Genet; 2000 Mar; 21(1):25-8. PubMed ID: 10779847
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mutations in PAX3 associated with Waardenburg syndrome type I.
Baldwin CT; Lipsky NR; Hoth CF; Cohen T; Mamuya W; Milunsky A
Hum Mutat; 1994; 3(3):205-11. PubMed ID: 8019556
[TBL] [Abstract][Full Text] [Related]
14. Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
Tekin M; Bodurtha JN; Nance WE; Pandya A
Clin Genet; 2001 Oct; 60(4):301-4. PubMed ID: 11683776
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.
Reynolds JE; Arnos KS; Landa B; Stevens CA; Salbert BA; Wright L; Duke B; Hunt W; Marazita ML; Ploughman L
Hum Hered; 1995; 45(5):243-52. PubMed ID: 7590754
[TBL] [Abstract][Full Text] [Related]
18. Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.
Niu Z; Li J; Tang F; Sun J; Wang X; Jiang L; Mei L; Chen H; Liu Y; Cai X; Feng Y; He C
Gene; 2018 Feb; 642():362-366. PubMed ID: 29158168
[TBL] [Abstract][Full Text] [Related]
19. A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
Hol FA; Hamel BC; Geurds MP; Mullaart RA; Barr FG; Macina RA; Mariman EC
J Med Genet; 1995 Jan; 32(1):52-6. PubMed ID: 7897628
[TBL] [Abstract][Full Text] [Related]
20. A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.
Hazan F; Ozturk AT; Adibelli H; Unal N; Tukun A
Mol Vis; 2013; 19():196-202. PubMed ID: 23378733
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]