BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 27469932)

  • 1. 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]  

  • 2. ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation.
    de Almeida HL; van Steensel M; Rocha A; Caspary P; Meijer R
    Int J Dermatol; 2019 Mar; 58(3):e72-e75. PubMed ID: 30656674
    [No Abstract]   [Full Text] [Related]  

  • 3. 'Double trouble': diagnostic challenges in genetic skin disorders.
    Kiritsi D; Valari M; Mileounis K; Bruckner-Tuderman L; Has C
    Br J Dermatol; 2015 Jan; 172(1):276-8. PubMed ID: 24902867
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 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. PubMed ID: 22069181
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.
    Mohammad A
    Dermatol Online J; 2015 Jan; 21(1):. PubMed ID: 25612123
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.
    Propping P; Zerres K
    Am J Med Genet; 1993 Mar; 45(5):642-8. PubMed ID: 8456838
    [TBL] [Abstract][Full Text] [Related]  

  • 13. ADULT syndrome: dental features of a very rare condition.
    Azzi L; Maurino V; Vinci R; Croveri F; Boggio A; Tagliabue A; Silvestre-Rangil J; Tettamanti L
    J Biol Regul Homeost Agents; 2017; 31(2 Suppl 1):61-65. PubMed ID: 28691455
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression.
    Bedeschi MF; Escande F; Bellini M; Natacci F; Cavallari U; Lalatta F
    Clin Dysmorphol; 2006 Oct; 15(4):239-241. PubMed ID: 16957482
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    Am J Med Genet A; 2005 Oct; 138A(2):146-9. PubMed ID: 16114047
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.