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Journal Abstract Search

159 related items for PubMed ID: 37158316

  • 1. 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; 45(1):84-94. PubMed ID: 37158316
    [Abstract] [Full Text] [Related]

  • 2. 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
    [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
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  • 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
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  • 5. 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]

  • 6. 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
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  • 7. ADULT syndrome caused by a mutation previously associated with EEC syndrome.
    Avitan-Hersh E, Indelman M, Bergman R, Sprecher E.
    Pediatr Dermatol; 2010 Dec 30; 27(6):643-5. PubMed ID: 21078104
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  • 10.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Sutton VR, van Bokhoven H.
    ; 1993 Dec 30. PubMed ID: 20556892
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  • 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 30; 33(5):e322-6. PubMed ID: 27469932
    [Abstract] [Full Text] [Related]

  • 12. 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 Sep 30; 59(1):11-4. PubMed ID: 24734328
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  • 14. A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.
    Brueggemann FB, Bartsch O.
    Clin Dysmorphol; 2016 Apr 30; 25(2):50-3. PubMed ID: 26882220
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  • 16. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
    Serra G, Antona V, Giuffré M, Li Pomi F, Lo Scalzo L, Piro E, Schierz IAM, Corsello G.
    Ital J Pediatr; 2021 Sep 28; 47(1):196. PubMed ID: 34583755
    [Abstract] [Full Text] [Related]

  • 17. Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.
    Childs AJ, Mabin DC, Turnpenny PD.
    Am J Med Genet A; 2020 Aug 28; 182(8):1939-1943. PubMed ID: 32476291
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  • 18. TP63-related disorders: two case reports and a brief review of the literature.
    Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R.
    Dermatol Online J; 2021 Nov 15; 27(11):. PubMed ID: 35130400
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  • 19. 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 Nov 15; 31(2 Suppl 1):61-65. PubMed ID: 28691455
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  • 20. [Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting].
    Han D, Wu H, Zhang XX, Feng HL.
    Zhonghua Kou Qiang Yi Xue Za Zhi; 2010 Dec 15; 45(12):767-9. PubMed ID: 21211247
    [Abstract] [Full Text] [Related]

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