281 related articles for article (PubMed ID: 31420900)
1. A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY; Zeng L; Li K; He JQ; Pang X; Huang H; Xiang R; Tang JY
J Gene Med; 2019 Oct; 21(10):e3122. PubMed ID: 31420900
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 22069181
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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. PubMed ID: 22607287
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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. PubMed ID: 27351625
[TBL] [Abstract][Full Text] [Related]
9. A Novel Missense Variant of
Geng H; Tang D; Xu C; He X; Zhang Z
Biomed Res Int; 2020; 2020():4215632. PubMed ID: 33294441
[TBL] [Abstract][Full Text] [Related]
10. Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects.
Lo Iacono N; Mantero S; Chiarelli A; Garcia E; Mills AA; Morasso MI; Costanzo A; Levi G; Guerrini L; Merlo GR
Development; 2008 Apr; 135(7):1377-88. PubMed ID: 18326838
[TBL] [Abstract][Full Text] [Related]
11. EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
Otsuki Y; Ueda K; Nuri T; Satoh C; Maekawa R; Yoshiura KI
Medicine (Baltimore); 2020 Oct; 99(44):e22816. PubMed ID: 33126320
[TBL] [Abstract][Full Text] [Related]
12. EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.
Monti P; Russo D; Bocciardi R; Foggetti G; Menichini P; Divizia MT; Lerone M; Graziano C; Wischmeijer A; Viadiu H; Ravazzolo R; Inga A; Fronza G
Hum Mutat; 2013 Jun; 34(6):894-904. PubMed ID: 23463580
[TBL] [Abstract][Full Text] [Related]
13. Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.
Zheng J; Liu H; Zhan Y; Liu Y; Wong SW; Cai T; Feng H; Han D
Mol Genet Genomic Med; 2019 Jun; 7(6):e704. PubMed ID: 31050217
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 25983622
[TBL] [Abstract][Full Text] [Related]
15. Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes
Hizem S; Maamouri R; Zaouak A; Rejeb I; Karoui S; Sebai M; Jilani H; Elaribi Y; Fenniche S; Cheour M; Bilan F; Ben Jemaa L
Ophthalmic Genet; 2024 Feb; 45(1):84-94. PubMed ID: 37158316
[TBL] [Abstract][Full Text] [Related]
16. TP63 gene mutations in Chinese P63 syndrome patients.
Yin W; Ye X; Shi L; Wang QK; Jin H; Wang P; Bian Z
J Dent Res; 2010 Aug; 89(8):813-7. PubMed ID: 20410354
[TBL] [Abstract][Full Text] [Related]
17. Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
Yang X; Lin X; Zhu Y; Luo J; Lin G
Mol Med Rep; 2018 Jun; 17(6):7553-7558. PubMed ID: 29620206
[TBL] [Abstract][Full Text] [Related]
18. Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.
Vera-Carbonell A; Moya-Quiles MR; Ballesta-Martínez M; López-González V; Bafallíu JA; Guillén-Navarro E; López-Expósito I
Gene; 2012 Apr; 497(2):292-7. PubMed ID: 22342398
[TBL] [Abstract][Full Text] [Related]
19. Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.
Whittington A; Stein S; Kenner-Bell B
Pediatr Dermatol; 2016 Sep; 33(5):e322-6. PubMed ID: 27469932
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
