Similar articles for PMID: 23512835

Year	Number of Results
1993	3
1994	2
1995	5
1996	3
1997	2
1998	3
2000	4
2001	2
2003	1
2004	1
2006	1
2007	3
2009	2
2010	3
2011	4
2012	6
2013	5
2014	1
2015	4
2016	6
2017	7
2018	8
2019	3
2020	8
2021	8
2022	3
2023	2
2024	1

1

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D. Wildhardt G, et al. BMJ Open. 2013 Mar 18;3(3):e001917. doi: 10.1136/bmjopen-2012-001917. BMJ Open. 2013. PMID: 23512835 Free PMC article.

2

The value of MLPA in Waardenburg syndrome.

Milunsky JM, Maher TA, Ito M, Milunsky A. Milunsky JM, et al. Genet Test. 2007 Summer;11(2):179-82. doi: 10.1089/gte.2006.0531. Genet Test. 2007. PMID: 17627390

3

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.

Zardadi S, Rayat S, Doabsari MH, Alishiri A, Keramatipour M, Shahri ZJ, Morovvati S. Zardadi S, et al. BMC Pediatr. 2021 Feb 8;21(1):70. doi: 10.1186/s12887-021-02521-6. BMC Pediatr. 2021. PMID: 33557787 Free PMC article.

4

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. Jalilian N, et al. Gene. 2015 Dec 15;574(2):302-7. doi: 10.1016/j.gene.2015.08.023. Epub 2015 Aug 11. Gene. 2015. PMID: 26275939

5

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.

Watanabe A, Takeda K, Ploplis B, Tachibana M. Watanabe A, et al. Nat Genet. 1998 Mar;18(3):283-6. doi: 10.1038/ng0398-283. Nat Genet. 1998. PMID: 9500554

6

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. Niu Z, et al. Eur Arch Otorhinolaryngol. 2021 Aug;278(8):2807-2815. doi: 10.1007/s00405-020-06361-5. Epub 2020 Sep 17. Eur Arch Otorhinolaryngol. 2021. PMID: 32940795

7

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.

Li W, Feng Y, Chen H, He C, Mei L, Liu XZ, Men M. Li W, et al. Otol Neurotol. 2020 Dec;41(10):e1250-e1255. doi: 10.1097/MAO.0000000000002821. Otol Neurotol. 2020. PMID: 32740552

8

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

Yang T, Li X, Huang Q, Li L, Chai Y, Sun L, Wang X, Zhu Y, Wang Z, Huang Z, Li Y, Wu H. Yang T, et al. Clin Genet. 2013 Jan;83(1):78-82. doi: 10.1111/j.1399-0004.2012.01853.x. Epub 2012 Mar 5. Clin Genet. 2013. PMID: 22320238

9

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. Jalilian N, et al. Int J Pediatr Otorhinolaryngol. 2015 Oct;79(10):1736-40. doi: 10.1016/j.ijporl.2015.07.039. Epub 2015 Aug 3. Int J Pediatr Otorhinolaryngol. 2015. PMID: 26279250

10

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).

Barashkov NA, Romanov GP, Borisova UP, Solovyev AV, Pshennikova VG, Teryutin FM, Bondar AA, Morozov IV, Khusnutdinova EK, Posukh OL, Burtseva TE, Odland JØ, Fedorova SA. Barashkov NA, et al. Int J Circumpolar Health. 2019 Dec;78(1):1630219. doi: 10.1080/22423982.2019.1630219. Int J Circumpolar Health. 2019. PMID: 31213145 Free PMC article.

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