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Journal Abstract Search

463 related items for PubMed ID: 27854409

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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mehta PA, Ebens C.
    ; 1993. PubMed ID: 20301575
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Roberts AE.
    ; 1993. PubMed ID: 20301303
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Baulac S, Baldassari S.
    ; 1993. PubMed ID: 27683934
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  • 12. A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
    Zhao MF, Zhang SL, Xiang Y, Wang Q, Cao GH, Zhang PP, Fan LL, Yu R, Li YL.
    DNA Cell Biol; 2024 Jul; 43(7):325-330. PubMed ID: 38700464
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  • 13. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
    Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KPJ, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J, FORGE Canada Consortium, Boycot KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG.
    Nat Genet; 2014 May; 46(5):510-515. PubMed ID: 24705253
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  • 14. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
    Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB.
    Am J Med Genet A; 2009 May; 149A(5):868-76. PubMed ID: 19353582
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Shuman C, Kalish JM, Weksberg R.
    ; 1993 May. PubMed ID: 20301568
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  • 16. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
    Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM, Boycott KM, Dobyns WB.
    Nat Genet; 2012 Jun 24; 44(8):934-40. PubMed ID: 22729224
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Priolo M.
    ; 1993 Jun 24. PubMed ID: 39083629
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wortmann SB, Wevers RA.
    ; 1993 Jun 24. PubMed ID: 27891836
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  • 19. Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.
    Su XR, Ma B, Zhang C, Li TG, Han BL, Wu WR, Nie F.
    Fetal Diagn Ther; 2024 Jun 24; 51(2):154-158. PubMed ID: 38008077
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  • 20.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Fahrner JA.
    ; 1993 Jun 24. PubMed ID: 37200470
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