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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

184 related items for PubMed ID: 24678003

  • 1. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
    Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G.
    Am J Med Genet A; 2014 Jul; 164A(7):1622-6. PubMed ID: 24678003
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  • 2. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J.
    Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
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  • 3. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
    Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E, DDD study, Devriendt K, Breckpot J.
    Eur J Hum Genet; 2019 Feb; 27(2):278-290. PubMed ID: 30291340
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  • 8. Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
    Tzschach A, Grasshoff U, Schäferhoff K, Bonin M, Dufke A, Wolff M, Haas-Lude K, Bevot A, Riess O.
    Am J Med Genet A; 2012 Jul; 158A(7):1709-12. PubMed ID: 22639460
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  • 13. A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.
    Izzo G, Freitas ÉL, Krepischi AC, Pearson PL, Vasques LR, Passos-Bueno MR, Bertola DR, Rosenberg C.
    Eur J Med Genet; 2013 Apr; 56(4):222-5. PubMed ID: 23395979
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  • 16. Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
    Enriquez A, Krivanek M, Flöttmann R, Peters H, Wilson M.
    Am J Med Genet A; 2016 Sep; 170(9):2372-6. PubMed ID: 27351625
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  • 18. Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.
    Lansdon LA, Darbro BW, Petrin AL, Hulstrand AM, Standley JM, Brouillette RB, Long A, Mansilla MA, Cornell RA, Murray JC, Houston DW, Manak JR.
    Genetics; 2018 Jan; 208(1):283-296. PubMed ID: 29162626
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  • 19. [Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate].
    Vieira AR, Castillo Taucher S, Aravena T, Astete C, Sanz P, Tastets ME, Monasterio L, Murray JC.
    Rev Med Chil; 2004 Jul; 132(7):816-22. PubMed ID: 15379328
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