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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

116 related items for PubMed ID: 10607963

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  • 4. 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
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  • 5. 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
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  • 7. 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
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  • 9. 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 01; 22(1):1-5. PubMed ID: 14656652
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  • 10. 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
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  • 12. ADULT syndrome due to an R243W mutation in TP63.
    Berk DR, Armstrong NL, Shinawi M, Whelan AJ.
    Int J Dermatol; 2012 Jun 01; 51(6):693-6. PubMed ID: 22607287
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  • 14. Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.
    Sankhyan N, Kaushal RK, Sarin S.
    Dermatol Online J; 2006 May 30; 12(4):5. PubMed ID: 17083860
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  • 15. Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.
    Franceschini P, Vardeu MP, Dalforno L, Signorile F, Franceschini D, Lala R, Matarazzo P.
    Am J Med Genet; 1992 Dec 01; 44(6):807-12. PubMed ID: 1481852
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  • 16. Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.
    Koillinen H, Wong FK, Rautio J, Ollikainen V, Karsten A, Larson O, Teh BT, Huggare J, Lahermo P, Larsson C, Kere J.
    Eur J Hum Genet; 2001 Oct 01; 9(10):747-52. PubMed ID: 11781685
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  • 18. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families.
    Tyynismaa H, Sistonen P, Tuupanen S, Tervo T, Dammert A, Latvala T, Alitalo T.
    Invest Ophthalmol Vis Sci; 2002 Oct 01; 43(10):3160-4. PubMed ID: 12356819
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  • 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 01; 33(5):e322-6. PubMed ID: 27469932
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  • 20. 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 01; 21(10):e3122. PubMed ID: 31420900
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