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Items: 1 to 20 of 107

1.

TP63-Related Disorders.

Sutton VR, van Bokhoven H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Jun 8 [updated 2015 Aug 6].

2.

IRF6-Related Disorders.

Schutte BC, Saal HM, Goudy S, Leslie E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Oct 30 [updated 2014 Jul 3].

3.

Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF.

Am J Med Genet A. 2009 Sep;149A(9):1900-6. doi: 10.1002/ajmg.a.32797.

PMID:
19681128
4.

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E.

Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11.

PMID:
21990121
5.

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

Serra V, Castori M, Paradisi M, Bui L, Melino G, Terrinoni A.

Am J Med Genet A. 2011 Dec;155A(12):3104-9. doi: 10.1002/ajmg.a.34335. Epub 2011 Nov 8.

6.

22q11.2 Deletion Syndrome.

McDonald-McGinn DM, Emanuel BS, Zackai EH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Sep 23 [updated 2013 Feb 28].

7.

Focal Dermal Hypoplasia.

Bostwick B, Van den Veyver IB, Sutton VR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 May 15 [updated 2016 Jul 21].

8.

ADULT syndrome due to an R243W mutation in TP63.

Berk DR, Armstrong NL, Shinawi M, Whelan AJ.

Int J Dermatol. 2012 Jun;51(6):693-6. doi: 10.1111/j.1365-4632.2011.05375.x.

PMID:
22607287
9.

Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

Cole P, Hatef DA, Kaufman Y, Magruder A, Bree A, Friedman E, Sindwani R, Hollier LH Jr.

Am J Med Genet A. 2009 Sep;149A(9):1910-5. doi: 10.1002/ajmg.a.32836.

PMID:
19697430
10.

International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.

Fete M, vanBokhoven H, Clements SE, McKeon F, Roop DR, Koster MI, Missero C, Attardi LD, Lombillo VA, Ratovitski E, Julapalli M, Ruths D, Sybert VP, Siegfried EC, Bree AF.

Am J Med Genet A. 2009 Sep;149A(9):1885-93. doi: 10.1002/ajmg.a.32761.

11.

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Enriquez A, Krivanek M, Flöttmann R, Peters H, Wilson M.

Am J Med Genet A. 2016 Sep;170(9):2372-6. doi: 10.1002/ajmg.a.37816. Epub 2016 Jun 28. Review.

PMID:
27351625
12.

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.

Alves LU, Pardono E, Otto PA, Mingroni Netto RC.

Genet Mol Biol. 2015 Mar;38(1):37-41. doi: 10.1590/S1415-475738120140125. Epub 2014 Mar 17.

13.

Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

Greene SL, Michels VV, Doyle JA.

Am J Med Genet. 1987 May;27(1):207-12.

PMID:
3605196
14.

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M.

Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7.

PMID:
22065614
15.

Ectodermal dysplasias: the p63 tail.

Tadini G, Santagada F, Brena M, Pezzani L, Nannini P.

G Ital Dermatol Venereol. 2013 Feb;148(1):53-8.

PMID:
23407076
16.

Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

Gonzalez F, Loidi L, Abalo-Lojo JM.

Ophthalmic Genet. 2017 May-Jun;38(3):277-280. doi: 10.1080/13816810.2016.1210649. Epub 2016 Aug 2.

PMID:
27485918
17.
18.

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.

Am J Med Genet A. 2018 Jan;176(1):75-81. doi: 10.1002/ajmg.a.38516. Epub 2017 Nov 12.

PMID:
29130604
19.

FLNB-Related Disorders.

Robertson S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Oct 9 [updated 2013 Oct 17].

20.

Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.

van Straten C, Butow KW.

Ann Maxillofac Surg. 2013 Jan;3(1):58-61. doi: 10.4103/2231-0746.110085.

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