| 1 | MITF, PAX3, SOX10, WS1, WS2A, WS2E, WS3, WS4C
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| Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
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| Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y.
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| Biochem Biophys Res Commun 397(1):70-4. Epub 2010 May 15.PMID: 20478267 2010
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| 2 | MITF, PAX3, WS1, WS2A, WS3,
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| The value of MLPA in Waardenburg syndrome.
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| Milunsky JM, Maher TA, Ito M, Milunsky A.
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| Genet Test 11(2):179-82. 2007
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| 3 | WS1,WS2A, WS2B, WS2D
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| Waardenburg syndrome: clinical differentiation between types I and II.
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| Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA.
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| Am J Med Genet A 117(3):223-35. 2003
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| 4 | WS3, WS1, PAX3
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| Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
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| Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M.
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| Am J Med Genet A 122(1):42-5. 2003
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| 5 | PAX3, WS1
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| Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
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| Carey ML, et al.
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| J Med Genet 35 : 248-250. 1998
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| 6 | MITF, PAX3, WS1
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| Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
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| Watanabe A, Takeda K, Ploplis B, Tachibana M.
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| Nat Genet 18(3):283-6. 1998
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| 7 | PAX3, WS1
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| Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
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| DeStefano AL, et al.
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| Hum Genet 102 : 499-506. 1998
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| 8 | PAX3, WS1
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| Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.
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| Morell R, et al.
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| Hum Hered 47 : 38-41. 1997
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| 9 | PAX3, WS1
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| Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
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| Soejima H, et al.
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| Hum Mutat 9 : 177-180. 1997
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| 10 | PAX3, WS1
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| The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
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| Morell R, Friedman TB, Asher JH Jr, Robbins LG.
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| J Med Genet 34(6):447-52. 1997
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| 11 | PAX3, WS1
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| A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).
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| Attaie A, Kim E, Wilcox ER, Lalwani AK.
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| Mol Cell Probes 11(3):233-6. 1997
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| 12 | WS1, WS2A, WS2B, WS3, WS4A, WS4B, WS4C
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| Waardenburg syndrome.
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| Read AP, et al.
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| J Med Genet 34 : 656-665. 1997
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| 13 | PAX3, WS1
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| Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.
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| Reynolds JE, et al.
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| Am J Hum Genet 58 : 384-392. 1996
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| 14 | WS1, PAX3
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| Phenotypic variation in Waardenburg syndrome : mutational heterogeneity, modifier genes or polygenic background?
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| Pandya A, et al.
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| Hum Mol Genet 5 : 497-502. 1996
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| 15 | WS1, PAX3
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| Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability : a murine model of Waardenburg syndrome variation.
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| Asher JH, et al.
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| Genomics 34 : 285-298. 1996
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| 16 | PAX3, WS1
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| Two different PAX3 gene mutations causing Waardenburg syndrome type I.
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| Wildhardt G, et al.
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| Mol Cell Probes 10 : 229-231. 1996
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| 17 | MITF, PAX3, WS1, WS2A, WS3
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| The mutational spectrum in Waardenburg syndrome.
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| Tassabehji M, et al.
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| Hum Mol Genet 4 : 2131-2137. 1995
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| 18 | PAX3, WS1
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| A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
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| Hol FA, et al.
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| J Med Genet 32 : 52-56. 1995
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| 19 | WS1, HSCR1
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| Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
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| AttiŽ T, et al.
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| J Med Genet 32 : 312-313. 1995
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| 20 | WS1, HSCR1
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| A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX3.
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| Pierpont JW, et al.
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| Clin Genet 47 : 139-143. 1995
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| 21 | WS1, PAX3
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| Mutations in PAX3 that cause Waardenburg syndrome type I : ten new mutations and review of the literature.
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| Baldwin CT, et al.
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| Am J Med Genet 58 : 115-122. 1995
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| 22 | WS1, PAX3
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| Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type I in two families.
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| Lalwani AK, et al.
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| Am J Hum Genet 56 : 75-83. 1995
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| 23 | WS1, PAX3
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| A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.
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| Butt J, et al.
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| Hum Mol Genet 3 : 197-198. 1994
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| 24 | WS1, PAX3
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| Mutations in PAX3 associated with Waardenburg syndrome type I.
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| Baldwin CT, et al.
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| Hum Mutat 3 : 205-211. 1994
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| 25 | WS1, PAX3
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| Molecular basis of splotch and Waardenburg Pax-3 mutations.
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| Chalepakis G, et al.
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| Proc Natl Acad Sci U S A 91 : 3685-3689. 1994
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| 26 | WS1, PAX3
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| PAX3 gene structure and mutations : close analogies between Waardenburg syndrome and the Splotch mouse.
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| Tassabehji M, et al.
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| Hum Mol Genet 3 : 1069-1074. 1994
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| 27 | WS1, PAX3
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| A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1).
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| Pierpont JW, et al.
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| Hum Mutat 4 : 227-228. 1994
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| 28 | WS1, WS2A
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| Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
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| Farrer LA, et al.
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| Am J Hum Genet 55 : 728-737. 1994
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| 29 | WS1, WS2A
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| The mutational spectrum in Waardenburg syndrome. (abstr)
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| Read AP, et al.
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| Am J Hum Genet 55 : A238. 1994
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| 30 | WS1
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| In situ hybridization applied to Waardenburg syndrome.
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| Wu BL, et al.
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| Cytogenet Cell Genet 63 : 29-32. 1993
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| 31 | WS1
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| Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type 1 (WS-1).
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| Hoth CF, et al.
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| Am J Hum Genet 52 : 455-462. 1993
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| 32 | WS1, PAX3
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| Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type 1 (WS1) locus (PAX3 gene).
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| Lu-Kuo J, et al.
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| Genomics 16 : 173-179. 1993
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| 33 | WS1, WS3
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| Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.
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| Pasteris NG, et al.
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| Hum Mol Genet 2 : 953-959. 1993
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| 34 | WS1, PAX3
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| Mutations of PAX3 unlikely in Waardenburg syndrome type 2.
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| Arias S, et al.
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| Nat Genet 5 : 8. 1993
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| 35 | WS1, PAX3
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| 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.
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| Morell R, et al.
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| Hum Mol Genet 2 : 1487-1488. 1993
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| 36 | WS1
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| Genetic mapping in the vicinity of the Waardenburg syndrome gene (WS1).
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| Reynolds JE, et al.
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| Cytogenet Cell Genet 64 : 92. 1993
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| 37 | WS1, PAX3
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| Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
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| Tassabehji M, et al.
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| Nat Genet 3 : 26-30. 1993
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| 38 | PAX3, WS1
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| An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.
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| Baldwin CT, et al.
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| Nature 355 : 637-638. 1992
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| 39 | PAX3, WS1
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| Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.
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| Tassabehji M, et al.
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| Nature 355 : 635-636. 1992
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| 40 | ALPP, WS1
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| 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.
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| Farrer LA, et al.
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| Am J Hum Genet 50 : 902-913. 1992
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| 41 | WS1
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| 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.
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| Morell R, et al.
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| Hum Mol Genet 1 : 243-247. 1992
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| 42 | WS1
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| Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type 1.
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| Tsukamoto K, et al.
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| Hum Mol Genet 1 : 315-317. 1992
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| 43 | WS1
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| Molecular pathology of Waardenburg syndrome : identification and characterization of mutations in the human PAX3 gene.
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| Strachan T, et al.
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| Am J Hum Genet 51 : A228. 1992
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| 44 | WS1
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| Construction and characterization of a region-specific microdissection library from human chromosome 2q35-q37.
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| Yu J, et al.
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| Genomics 14 : 769-774. 1992
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| 45 | WS1
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| Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.
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| Epstein DJ, et al.
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| Genomics 10 : 89-93. 1991
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| 46 | WS1
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| Molecular cytogenetic studies of Waardenburg syndrome type I.
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| Mao X, et al.
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| Am J Hum Genet 49S : 196. 1991
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| 47 | WS1
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| Waardenburg syndrome (WS) : the analysis of a single family with a WSI mutation showing linkage to RFLP markers on human chromosome 2q.
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| Asher JH, et al.
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| Am J Hum Genet 48 : 43-52. 1991
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| 48 | WS1
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| Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the splotch mouse.
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| Foy C, et al.
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| Am J Hum Genet 46 : 1017-1023. 1990
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| 49 | WS1
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| Waardenburg syndrome type I: genetic analysis of a multi-generational family.
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| Flodman PL, et al.
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| Am J Hum Genet 47 : A216. 1990
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| 50 | WS1
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| Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
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| Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N.
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| Am J Med Genet 33 : 505-507. 1989
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