Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2001 | 1 |
2015 | 1 |
2017 | 1 |
2018 | 2 |
2019 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17.
Am J Hum Genet. 2001.
PMID: 11462173
Free PMC article.
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.
Ponzi E, Asaro A, Orteschi D, Genuardi M, Zollino M, Gurrieri F.
Ponzi E, et al.
Eur J Med Genet. 2015 Aug;58(8):400-5. doi: 10.1016/j.ejmg.2015.06.001. Epub 2015 Jun 24.
Eur J Med Genet. 2015.
PMID: 26117585
Item in Clipboard
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
Wenger T, Li D, Harr MH, Tan WH, Pellegrino R, Stark Z, Hakonarson H, Bhoj EJ.
Wenger T, et al.
Am J Med Genet A. 2018 Jan;176(1):75-81. doi: 10.1002/ajmg.a.38516. Epub 2017 Nov 12.
Am J Med Genet A. 2018.
PMID: 29130604
Item in Clipboard
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M.
Basha M, et al.
J Med Genet. 2018 Jul;55(7):449-458. doi: 10.1136/jmedgenet-2017-105110. Epub 2018 Mar 2.
J Med Genet. 2018.
PMID: 29500247
Item in Clipboard
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD, van den Boogaard MH, Mehrem SL, Gebel J, Fagerberg C, van Beusekom E, van Binsbergen E, Topaloglu O, Steehouwer M, Gilissen C, Ishorst N, van Rooij IALM, Roeleveld N, Christensen K, Schoenaers J, Bergé S, Murray JC, Hens G, Devriendt K, Ludwig KU, Mangold E, Hoischen A, Zhou H, Dötsch V, Carels CEL, van Bokhoven H.
Khandelwal KD, et al.
Eur J Hum Genet. 2019 Jul;27(7):1101-1112. doi: 10.1038/s41431-019-0370-0. Epub 2019 Mar 8.
Eur J Hum Genet. 2019.
PMID: 30850703
Free PMC article.
Clinical Trial.
Item in Clipboard
Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate.
Xu T, Du M, Bu X, Yuan D, Gu Z, Yu P, Li X, Chen J, Jin C.
Xu T, et al.
BMC Med Genomics. 2021 Feb 23;14(1):53. doi: 10.1186/s12920-021-00903-4.
BMC Med Genomics. 2021.
PMID: 33622322
Free PMC article.
Item in Clipboard
Cite
Cite