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Journal Abstract Search

284 related items for PubMed ID: 25052316

  • 1. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
    Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.
    Eur J Hum Genet; 2015 Mar; 23(3):292-301. PubMed ID: 25052316
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  • 2. Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
    Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB.
    Am J Med Genet A; 2016 Oct; 170(10):2644-51. PubMed ID: 27240540
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  • 3. Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
    Cianci P, Fazio G, Casagranda S, Spinelli M, Rizzari C, Cazzaniga G, Selicorni A.
    Am J Med Genet A; 2017 Feb; 173(2):546-549. PubMed ID: 27868373
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  • 4. Baraitser-Winter cerebrofrontofacial syndrome.
    Yates TM, Turner CL, Firth HV, Berg J, Pilz DT.
    Clin Genet; 2017 Jul; 92(1):3-9. PubMed ID: 27625340
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  • 5. A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.
    Kemerley A, Sloan C, Pfeifer W, Smith R, Drack A.
    Ophthalmic Genet; 2017 Jul; 38(2):152-156. PubMed ID: 27096712
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  • 6. Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
    Hampshire K, Martin PM, Carlston C, Slavotinek A.
    Am J Med Genet A; 2020 Aug; 182(8):1923-1932. PubMed ID: 32506774
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  • 7. Rare ACTG1 variants in fetal microlissencephaly.
    Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N.
    Eur J Med Genet; 2015 Aug; 58(8):416-8. PubMed ID: 26188271
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  • 8. Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.
    Chacon-Camacho OF, Barragán-Arévalo T, Villarroel CE, Almanza-Monterrubio M, Zenteno JC.
    Eur J Med Genet; 2020 May; 63(5):103877. PubMed ID: 32028042
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  • 10. Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
    Göbel T, Berninger L, Schlump A, Feige B, Runge K, Nickel K, Schiele MA, van Elst LT, Hotz A, Alter S, Domschke K, Tzschach A, Endres D.
    J Neural Transm (Vienna); 2022 Nov; 129(11):1387-1391. PubMed ID: 36205783
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  • 12. De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
    Dawidziuk M, Kutkowska-Kazmierczak A, Bukowska-Olech E, Jurek M, Kalka E, Guilbride DL, Furmanek MI, Bekiesinska-Figatowska M, Bal J, Gawlinski P.
    Int J Mol Sci; 2022 Jan 08; 23(2):. PubMed ID: 35054877
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  • 15. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
    Eker HK, Derinkuyu BE, Ünal S, Masliah-Planchon J, Drunat S, Verloes A.
    Eur J Med Genet; 2014 Jan 08; 57(1):32-6. PubMed ID: 24211661
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