PubMed (cited) for id: 193510

Year	Number of Results
1966	1
1971	1
1977	1
1978	1
1980	1
1990	1
1992	1
1993	1
1994	3
1995	3
1996	2
1997	2
1998	1
2010	1
2015	1
2016	2
2024	0

1

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. George A, et al. Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889061 Free PMC article.

2

Hearing loss in Waardenburg syndrome: a systematic review.

Song J, Feng Y, Acke FR, Coucke P, Vleminckx K, Dhooge IJ. Song J, et al. Clin Genet. 2016 Apr;89(4):416-425. doi: 10.1111/cge.12631. Epub 2015 Jul 17. Clin Genet. 2016. PMID: 26100139 Review.

3

Review and update of mutations causing Waardenburg syndrome.

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.

4

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

Lalwani AK, Attaie A, Randolph FT, Deshmukh D, Wang C, Mhatre A, Wilcox E. Lalwani AK, et al. Am J Med Genet. 1998 Dec 4;80(4):406-9. Am J Med Genet. 1998. PMID: 9856573

5

Waardenburg syndrome.

Read AP, Newton VE. Read AP, et al. J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. J Med Genet. 1997. PMID: 9279758 Free PMC article. Review.

6

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr. Morell R, et al. Hum Mol Genet. 1997 May;6(5):659-64. doi: 10.1093/hmg/6.5.659. Hum Mol Genet. 1997. PMID: 9158138

7

Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics.

Tachibana M, Takeda K, Nobukuni Y, Urabe K, Long JE, Meyers KA, Aaronson SA, Miki T. Tachibana M, et al. Nat Genet. 1996 Sep;14(1):50-4. doi: 10.1038/ng0996-50. Nat Genet. 1996. PMID: 8782819

8

Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.

Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M. Nobukuni Y, et al. Am J Hum Genet. 1996 Jul;59(1):76-83. Am J Hum Genet. 1996. PMID: 8659547 Free PMC article.

9

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, et al. Tassabehji M, et al. Hum Mol Genet. 1995 Nov;4(11):2131-7. doi: 10.1093/hmg/4.11.2131. Hum Mol Genet. 1995. PMID: 8589691

10

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. Tassabehji M, et al. Nat Genet. 1993 Jan;3(1):26-30. doi: 10.1038/ng0193-26. Nat Genet. 1993. PMID: 8490648

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