161 related articles for article (PubMed ID: 7902163)
21. 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]
22. 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]
23. Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
Pandya A; Xia XJ; Landa BL; Arnos KS; Israel J; Lloyd J; James AL; Diehl SR; Blanton SH; Nance WE
Hum Mol Genet; 1996 Apr; 5(4):497-502. PubMed ID: 8845842
[TBL] [Abstract][Full Text] [Related]
24. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.
Baldwin CT; Hoth CF; Amos JA; da-Silva EO; Milunsky A
Nature; 1992 Feb; 355(6361):637-8. PubMed ID: 1347149
[TBL] [Abstract][Full Text] [Related]
25. A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.
Morell R; Friedman TB; Moeljopawiro S; Hartono ; Soewito ; Asher JH
Hum Mol Genet; 1992 Jul; 1(4):243-7. PubMed ID: 1303193
[TBL] [Abstract][Full Text] [Related]
26. Molecular basis of splotch and Waardenburg Pax-3 mutations.
Chalepakis G; Goulding M; Read A; Strachan T; Gruss P
Proc Natl Acad Sci U S A; 1994 Apr; 91(9):3685-9. PubMed ID: 7909605
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.
Morell R; Carey ML; Lalwani AK; Friedman TB; Asher JH
Hum Hered; 1997; 47(1):38-41. PubMed ID: 9017978
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Genotype-phenotype correlations in type 1 Waardenburg syndrome.
Lalwani AK; Mhatre AN; San Agustin TB; Wilcox ER
Laryngoscope; 1996 Jul; 106(7):895-902. PubMed ID: 8667990
[TBL] [Abstract][Full Text] [Related]
32. Possible homozygous Waardenburg syndrome in a fetus with exencephaly.
Aymé S; Philip N
Am J Med Genet; 1995 Nov; 59(2):263-5. PubMed ID: 8588597
[No Abstract] [Full Text] [Related]
33. 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]
34. 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]
35. 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]
36. Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.
Asher JH; Harrison RW; Morell R; Carey ML; Friedman TB
Genomics; 1996 Jun; 34(3):285-98. PubMed ID: 8786127
[TBL] [Abstract][Full Text] [Related]
37. Three cases of Waardenburg syndrome type 2 in a Korean family.
Choi JH; Moon SK; Lee KH; Lew HM; Chang YH
Korean J Ophthalmol; 2004 Dec; 18(2):185-9. PubMed ID: 15635834
[TBL] [Abstract][Full Text] [Related]
38. PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.
Wang J; Li S; Xiao X; Wang P; Guo X; Zhang Q
Mol Vis; 2010 Jun; 16():1146-53. PubMed ID: 20664692
[TBL] [Abstract][Full Text] [Related]
39. Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
Attié 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]
40. [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]
[Previous] [Next] [New Search]
