OMIM/103285[Secondary Source ID] - Search Results

Year	Number of Results
2001	1
2002	2
2003	1
2005	1
2006	1
2007	1
2025	0

1

Rinne T, Brunner HG, van Bokhoven H. Rinne T, et al. Cell Cycle. 2007 Feb 1;6(3):262-8. doi: 10.4161/cc.6.3.3796. Epub 2007 Feb 3. Cell Cycle. 2007. PMID: 17224651 Free article. Review.

2

Splitting p63.

van Bokhoven H, Brunner HG. van Bokhoven H, et al. Am J Hum Genet. 2002 Jul;71(1):1-13. doi: 10.1086/341450. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12037717 Free PMC article. Review.

3

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. McGrath JA, et al. Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. Hum Mol Genet. 2001. PMID: 11159940

4

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, Huoponen K, Savontaus ML, Aaltonen M, Duijf P, Brunner HG, Penttinen M, van Bokhoven H. Rinne T, et al. Eur J Hum Genet. 2006 Aug;14(8):904-10. doi: 10.1038/sj.ejhg.5201640. Epub 2006 May 17. Eur J Hum Genet. 2006. PMID: 16724007

5

Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.

Dianzani I, Garelli E, Gustavsson P, Carando A, Gustafsson B, Dahl N, Annerén G. Dianzani I, et al. J Med Genet. 2003 Dec;40(12):e133. doi: 10.1136/jmg.40.12.e133. J Med Genet. 2003. PMID: 14684701 Free PMC article. No abstract available.

6

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.

Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M. Slavotinek AM, et al. Am J Med Genet A. 2005 Oct 1;138A(2):146-9. doi: 10.1002/ajmg.a.30900. Am J Med Genet A. 2005. PMID: 16114047

7

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE. Vervoort VS, et al. J Med Genet. 2002 Dec;39(12):893-9. doi: 10.1136/jmg.39.12.893. J Med Genet. 2002. PMID: 12471201 Free PMC article.

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