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Journal Abstract Search

217 related items for PubMed ID: 21078104

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 30; 99(44):e22816. PubMed ID: 33126320
    [Abstract] [Full Text] [Related]

  • 7. 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 30; 155A(12):3104-9. PubMed ID: 22069181
    [Abstract] [Full Text] [Related]

  • 8. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.
    Propping P, Zerres K.
    Am J Med Genet; 1993 Mar 01; 45(5):642-8. PubMed ID: 8456838
    [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 TP63 and CNGB3.
    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 01; 45(1):84-94. PubMed ID: 37158316
    [Abstract] [Full Text] [Related]

  • 10. 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 Feb 01; 31(2 Suppl 1):61-65. PubMed ID: 28691455
    [Abstract] [Full Text] [Related]

  • 11. Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.
    Whittington A, Stein S, Kenner-Bell B.
    Pediatr Dermatol; 2016 Sep 01; 33(5):e322-6. PubMed ID: 27469932
    [Abstract] [Full Text] [Related]

  • 12. 'Double trouble': diagnostic challenges in genetic skin disorders.
    Kiritsi D, Valari M, Mileounis K, Bruckner-Tuderman L, Has C.
    Br J Dermatol; 2015 Jan 01; 172(1):276-8. PubMed ID: 24902867
    [No Abstract] [Full Text] [Related]

  • 13. Ectodermal dysplasias: the p63 tail.
    Tadini G, Santagada F, Brena M, Pezzani L, Nannini P.
    G Ital Dermatol Venereol; 2013 Feb 01; 148(1):53-8. PubMed ID: 23407076
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 68():104911. PubMed ID: 38281558
    [Abstract] [Full Text] [Related]

  • 15. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.
    Gawrych E, Bińczak-Kuleta A, Janiszewska-Olszowska J, Ciechanowicz A.
    Ann Acad Med Stetin; 2013 Apr 01; 59(1):11-4. PubMed ID: 24734328
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 108(3):e91-5. PubMed ID: 19716498
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 29(6):669-72. PubMed ID: 15550149
    [Abstract] [Full Text] [Related]

  • 18. A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.
    Sorasio L, Biamino E, Garelli E, Ferrero GB, Silengo MC.
    Clin Exp Dermatol; 2009 Dec 01; 34(8):e726-8. PubMed ID: 19663851
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 162(1):201-7. PubMed ID: 19903181
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 14(8):904-10. PubMed ID: 16724007
    [Abstract] [Full Text] [Related]

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