155 related articles for article (PubMed ID: 1670751)
1. Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.
Asher JH; Morell R; Friedman TB
Am J Hum Genet; 1991 Jan; 48(1):43-52. PubMed ID: 1670751
[TBL] [Abstract][Full Text] [Related]
2. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.
Farrer LA; Grundfast KM; Amos J; Arnos KS; Asher JH; Beighton P; Diehl SR; Fex J; Foy C; Friedman TB
Am J Hum Genet; 1992 May; 50(5):902-13. PubMed ID: 1349198
[TBL] [Abstract][Full Text] [Related]
3. Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP.
Asher JH; Morell R; Friedman TB
Ann N Y Acad Sci; 1991; 630():295-7. PubMed ID: 1683205
[No Abstract] [Full Text] [Related]
4. In situ hybridization applied to Waardenburg syndrome.
Wu BL; Milunsky A; Wyandt H; Hoth C; Baldwin C; Skare J
Cytogenet Cell Genet; 1993; 63(1):29-32. PubMed ID: 8449034
[TBL] [Abstract][Full Text] [Related]
5. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
Farrer LA; Arnos KS; Asher JH; Baldwin CT; Diehl SR; Friedman TB; Greenberg J; Grundfast KM; Hoth C; Lalwani AK
Am J Hum Genet; 1994 Oct; 55(4):728-37. PubMed ID: 7942851
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q.
Schurr E; Skamene E; Morgan K; Chu ML; Gros P
Genomics; 1990 Nov; 8(3):477-86. PubMed ID: 1981051
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. An RFLP map for 2q33-q37 from multicase mycobacterial and leishmanial disease families: no evidence for an Lsh/Ity/Bcg gene homologue influencing susceptibility to leprosy.
Shaw MA; Atkinson S; Dockrell H; Hussain R; Lins-Lainson Z; Shaw J; Ramos F; Silveira F; Mehdi SQ; Kaukab F
Ann Hum Genet; 1993 Oct; 57(4):251-71. PubMed ID: 7910002
[TBL] [Abstract][Full Text] [Related]
12. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.
Foy C; Newton V; Wellesley D; Harris R; Read AP
Am J Hum Genet; 1990 Jun; 46(6):1017-23. PubMed ID: 2339698
[TBL] [Abstract][Full Text] [Related]
13. Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred.
Dow E; Cross S; Wolgemuth DJ; Lyonnet S; Mulligan LM; Mascari M; Ladda R; Williamson R
Am J Med Genet; 1994 Oct; 53(1):75-80. PubMed ID: 7802041
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
Niu Z; Mei L; Tang F; Li J; Wang X; Sun J; He C; Cheng H; Liu Y; Cai X; Song J; Feng Y; Jiang L
Eur Arch Otorhinolaryngol; 2021 Aug; 278(8):2807-2815. PubMed ID: 32940795
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2.
Kainulainen K; Savolainen A; Palotie A; Kaitila I; Rosenbloom J; Peltonen L
Hum Genet; 1990 Feb; 84(3):233-6. PubMed ID: 1968032
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
AttiƩ T; Till M; Pelet A; Edery P; Bonnet JP; Munnich A; Lyonnet S
J Med Genet; 1995 Apr; 32(4):312-3. PubMed ID: 7643365
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]