352 related articles for article (PubMed ID: 23407076)
1. 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. PubMed ID: 23407076
[TBL] [Abstract][Full Text] [Related]
2. 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
Eur J Hum Genet; 2006 Aug; 14(8):904-10. PubMed ID: 16724007
[TBL] [Abstract][Full Text] [Related]
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
Hum Mol Genet; 2001 Feb; 10(3):221-9. PubMed ID: 11159940
[TBL] [Abstract][Full Text] [Related]
4. R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
Valenzise M; Arrigo T; De Luca F; Privitera A; Frigiola A; Carando A; Garelli E; Silengo M
Eur J Med Genet; 2008; 51(5):497-500. PubMed ID: 18603493
[TBL] [Abstract][Full Text] [Related]
5. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
Clements SE; Techanukul T; Coman D; Mellerio JE; McGrath JA
Br J Dermatol; 2010 Jan; 162(1):201-7. PubMed ID: 19903181
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 22065614
[TBL] [Abstract][Full Text] [Related]
7. Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).
Rinne T; Bolat E; Meijer R; Scheffer H; van Bokhoven H
Am J Med Genet A; 2009 Sep; 149A(9):1948-51. PubMed ID: 19676060
[TBL] [Abstract][Full Text] [Related]
8. ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.
Chan I; Harper JI; Mellerio JE; McGrath JA
Clin Exp Dermatol; 2004 Nov; 29(6):669-72. PubMed ID: 15550149
[TBL] [Abstract][Full Text] [Related]
9. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Soğukpınar M; Utine GE; Boduroğlu K; Şimşek-Kiper PÖ
Eur J Med Genet; 2024 Apr; 68():104911. PubMed ID: 38281558
[TBL] [Abstract][Full Text] [Related]
10. Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
Payne AS; Yan AC; Ilyas E; Li W; Seykora JT; Young TL; Pawel BR; Honig PJ; Camacho J; Imaizumi S; Heymann WR; Schnur RE
Arch Dermatol; 2005 Dec; 141(12):1567-73. PubMed ID: 16365259
[TBL] [Abstract][Full Text] [Related]
11. ADULT syndrome caused by a mutation previously associated with EEC syndrome.
Avitan-Hersh E; Indelman M; Bergman R; Sprecher E
Pediatr Dermatol; 2010; 27(6):643-5. PubMed ID: 21078104
[TBL] [Abstract][Full Text] [Related]
12. Sweating ability of patients with p63-associated syndromes.
Ferstl P; Wohlfart S; Schneider H
Eur J Pediatr; 2018 Nov; 177(11):1727-1731. PubMed ID: 30088137
[TBL] [Abstract][Full Text] [Related]
13. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H; Hamel BC; Bamshad M; Sangiorgi E; Gurrieri F; Duijf PH; Vanmolkot KR; van Beusekom E; van Beersum SE; Celli J; Merkx GF; Tenconi R; Fryns JP; Verloes A; Newbury-Ecob RA; Raas-Rotschild A; Majewski F; Beemer FA; Janecke A; Chitayat D; Crisponi G; Kayserili H; Yates JR; Neri G; Brunner HG
Am J Hum Genet; 2001 Sep; 69(3):481-92. PubMed ID: 11462173
[TBL] [Abstract][Full Text] [Related]
14. Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
Paranaíba LM; Martelli-Júnior H; de Miranda RT; Bufalino A; Abdo Filho RC; Coletta RD
Cleft Palate Craniofac J; 2010 Sep; 47(5):544-7. PubMed ID: 20180707
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 21990121
[TBL] [Abstract][Full Text] [Related]
16. p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly.
Berdón-Zapata V; Granillo-Alvarez M; Valdés-Flores M; García-Ortiz JE; Kofman-Alfaro S; Zenteno JC
J Orthop Res; 2004 Jan; 22(1):1-5. PubMed ID: 14656652
[TBL] [Abstract][Full Text] [Related]
17. Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.
Barbaro V; Nasti AA; Raffa P; Migliorati A; Nespeca P; Ferrari S; Palumbo E; Bertolin M; Breda C; Miceli F; Russo A; Caenazzo L; Ponzin D; Palù G; Parolin C; Di Iorio E
Stem Cells Transl Med; 2016 Aug; 5(8):1098-105. PubMed ID: 27151912
[TBL] [Abstract][Full Text] [Related]
18. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
Duijf PH; Vanmolkot KR; Propping P; Friedl W; Krieger E; McKeon F; Dötsch V; Brunner HG; van Bokhoven H
Hum Mol Genet; 2002 Apr; 11(7):799-804. PubMed ID: 11929852
[TBL] [Abstract][Full Text] [Related]
19. A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?
Chiu YE; Drolet BA; Duffy KJ; Holland KE
Pediatr Dermatol; 2011; 28(1):15-9. PubMed ID: 19793345
[TBL] [Abstract][Full Text] [Related]
20. A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma.
Balci S; Engiz O; Okten G; Sipahier M; Gursu G; Kandemir B
Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2009 Sep; 108(3):e91-5. PubMed ID: 19716498
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
