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Journal Abstract Search

191 related items for PubMed ID: 23541344

  • 1. Mutations in KCTD1 cause scalp-ear-nipple syndrome.
    Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics.
    Am J Hum Genet; 2013 Apr 04; 92(4):621-6. PubMed ID: 23541344
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  • 2. Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
    Smaldone G, Balasco N, Pirone L, Caruso D, Di Gaetano S, Pedone EM, Vitagliano L.
    Sci Rep; 2019 Jul 19; 9(1):10519. PubMed ID: 31324836
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  • 7. Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions.
    Ding XF, Luo C, Ren KQ, Zhang J, Zhou JL, Hu X, Liu RS, Wang Y, Gao X, Zhang J.
    DNA Cell Biol; 2008 May 19; 27(5):257-65. PubMed ID: 18358072
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  • 9. Finlay-Marks syndrome: report of two siblings and review of literature.
    Naik P, Kini P, Chopra D, Gupta Y.
    Am J Med Genet A; 2012 Jul 19; 158A(7):1696-701. PubMed ID: 22639454
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  • 14. KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
    Raymundo JR, Zhang H, Smaldone G, Zhu W, Daly KE, Glennon BJ, Pecoraro G, Salvatore M, Devine WA, Lo CW, Vitagliano L, Marneros AG.
    J Clin Invest; 2023 Dec 19; 134(4):. PubMed ID: 38113115
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  • 16. Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: a unique expression of polytopic field defect involving possible 'paradominant' inheritance?
    Urbani CE.
    Am J Med Genet A; 2004 Mar 15; 125A(3):327-8. PubMed ID: 14994248
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  • 19. A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
    Meshcheryakova TI, Zinchenko RA, Vasilyeva TA, Marakhonov AV, Zhylina SS, Petrova NV, Kozhanova TV, Belenikin MS, Petrin AN, Mutovin GR.
    Ann Hum Genet; 2015 Mar 15; 79(2):148-52. PubMed ID: 25590586
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  • 20. Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.
    Baris H, Tan WH, Kimonis VE.
    Am J Med Genet A; 2005 Apr 15; 134A(2):220-2. PubMed ID: 15712197
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