161 related articles for article (PubMed ID: 7902163)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Two different PAX3 gene mutations causing Waardenburg syndrome type I.
Wildhardt G; Winterpacht A; Hilbert K; Menger H; Zabel B
Mol Cell Probes; 1996 Jun; 10(3):229-31. PubMed ID: 8799378
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.
Butt J; Greenberg J; Winship I; Sellars S; Beighton P; Ramesar R
Hum Mol Genet; 1994 Jan; 3(1):197-8. PubMed ID: 8162027
[No Abstract] [Full Text] [Related]
11. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.
Lalwani AK; Brister JR; Fex J; Grundfast KM; Ploplis B; San Agustin TB; Wilcox ER
Am J Hum Genet; 1995 Jan; 56(1):75-83. PubMed ID: 7825605
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. The mutational spectrum in Waardenburg syndrome.
Tassabehji M; Newton VE; Liu XZ; Brady A; Donnai D; Krajewska-Walasek M; Murday V; Norman A; Obersztyn E; Reardon W
Hum Mol Genet; 1995 Nov; 4(11):2131-7. PubMed ID: 8589691
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.
Tassabehji M; Read AP; Newton VE; Harris R; Balling R; Gruss P; Strachan T
Nature; 1992 Feb; 355(6361):635-6. PubMed ID: 1347148
[TBL] [Abstract][Full Text] [Related]
17. Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
Hol FA; Geurds MP; Cremers CW; Hamel BC; Mariman EC
Hum Mutat; 1998; Suppl 1():S145-7. PubMed ID: 9452070
[No Abstract] [Full Text] [Related]
18. 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]
19. 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]
20. Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
Soejima H; Fujimoto M; Tsukamoto K; Matsumoto N; Yoshiura KI; Fukushima Y; Jinno Y; Niikawa N
Hum Mutat; 1997; 9(2):177-80. PubMed ID: 9067759
[No Abstract] [Full Text] [Related]
[Next] [New Search]