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Journal Abstract Search

204 related items for PubMed ID: 32476291

  • 1. 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; 182(8):1939-1943. PubMed ID: 32476291
    [Abstract] [Full Text] [Related]

  • 2. A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
    Niculescu L, Wagner M, Westphal DS, Fischer M, Mihatsch W, Prothmann A, Ruzicka T, Wollenberg A, Wolff H, Schmidt H, Giehl KA.
    Acta Derm Venereol; 2019 Jan 01; 99(1):111-112. PubMed ID: 29956718
    [No Abstract] [Full Text] [Related]

  • 3. Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.
    Barbaro V, Nasti AA, Raffa P, Migliorati A, Nespeca P, Ferrari S, Palumbo E, Bertolin M, Breda C, Miceli F, Russo A, Caenazzo L, Ponzin D, Palù G, Parolin C, Di Iorio E.
    Stem Cells Transl Med; 2016 Aug 01; 5(8):1098-105. PubMed ID: 27151912
    [Abstract] [Full Text] [Related]

  • 4. Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
    Christodoulou J, McDougall PN, Sheffield LJ.
    J Med Genet; 1989 Sep 01; 26(9):586-9. PubMed ID: 2553970
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 59(1):11-4. PubMed ID: 24734328
    [Abstract] [Full Text] [Related]

  • 6. A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.
    Brueggemann FB, Bartsch O.
    Clin Dysmorphol; 2016 Apr 01; 25(2):50-3. PubMed ID: 26882220
    [Abstract] [Full Text] [Related]

  • 7. [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 01; 45(12):767-9. PubMed ID: 21211247
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 10. Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.
    Zhang Z, Cheng R, Liang J, Lu Z, Wang Y, Li M, Yu H, Yao Z.
    J Dermatol; 2019 May 01; 46(5):422-425. PubMed ID: 30809829
    [Abstract] [Full Text] [Related]

  • 11. A newborn with overlapping features of AEC and EEC syndromes.
    Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M.
    Am J Med Genet A; 2011 Dec 01; 155A(12):3100-3. PubMed ID: 22065614
    [Abstract] [Full Text] [Related]

  • 12. Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.
    Hyder Z, Beale V, O'Connor R, Clayton-Smith J.
    Clin Dysmorphol; 2017 Apr 01; 26(2):78-82. PubMed ID: 28166087
    [Abstract] [Full Text] [Related]

  • 13. Ocular manifestations in a father and son with EEC syndrome.
    Käsmann B, Ruprecht KW.
    Graefes Arch Clin Exp Ophthalmol; 1997 Aug 01; 235(8):512-6. PubMed ID: 9285221
    [Abstract] [Full Text] [Related]

  • 14. A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
    Sodero G, Colonna AT, Purcaro V, Onesimo R, Zampino G, Vento G.
    J Neonatal Perinatal Med; 2023 Aug 01; 16(2):349-353. PubMed ID: 37182847
    [Abstract] [Full Text] [Related]

  • 15. Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
    Paranaíba LM, Martelli-Júnior H, de Miranda RT, Bufalino A, Abdo Filho RC, Coletta RD.
    Cleft Palate Craniofac J; 2010 Sep 01; 47(5):544-7. PubMed ID: 20180707
    [Abstract] [Full Text] [Related]

  • 16. A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?
    Chiu YE, Drolet BA, Duffy KJ, Holland KE.
    Pediatr Dermatol; 2011 Sep 01; 28(1):15-9. PubMed ID: 19793345
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
    Giampietro PF, Baker MW, Basehore MJ, Jones JR, Seroogy CM.
    Am J Med Genet A; 2013 Jun 01; 161A(6):1432-5. PubMed ID: 23613309
    [Abstract] [Full Text] [Related]

  • 20. Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation.
    Yang Y, Huang LY, Han J, Li DZ.
    Eur J Obstet Gynecol Reprod Biol; 2017 Jun 01; 213():146-147. PubMed ID: 28420484
    [No Abstract] [Full Text] [Related]

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