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Journal Abstract Search

149 related items for PubMed ID: 34450357

  • 1. Prenatal diagnosis of Baraitser - Winter syndrome using exome sequencing: Clinical report and review of literature.
    Papamichail M, Manolakos E, Papoulidis I, Siomou E, Eleftheriades A, Marinakis I, Tzanakis K, Sartsidis A, Vlahos NF, Eleftheriades M.
    Eur J Med Genet; 2021 Nov; 64(11):104318. PubMed ID: 34450357
    [Abstract] [Full Text] [Related]

  • 2. Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.
    Zhang K, Cox E, Strom S, Xu ZL, Disilvestro A, Usrey K.
    Am J Med Genet A; 2020 Sep; 182(9):2124-2128. PubMed ID: 32588558
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  • 3. Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
    Burrill N, Crane H, Khalek N, Soni S, Wild KT, Skraban C, McManus M, Szigety K, Oliver ER, Partridge E, Agarwal S, Fisher A, Wang J, Moldenhauer JS.
    Am J Med Genet A; 2024 Oct; 194(10):e63719. PubMed ID: 38789278
    [Abstract] [Full Text] [Related]

  • 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. 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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  • 6. 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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  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
    Choi GJ, Kim MS, Park H, Kim JY, Choi JM, Lee SM, Jang JH, Cho SY, Jin DK.
    Ann Clin Lab Sci; 2020 Nov; 50(6):818-824. PubMed ID: 33334799
    [Abstract] [Full Text] [Related]

  • 9. 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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  • 13. New ocular finding in Baraitser-Winter syndrome (BWS).
    Rall N, Leon A, Gomez R, Daroca J, Lacassie Y.
    Eur J Med Genet; 2018 Jan; 61(1):21-23. PubMed ID: 29024830
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  • 14. 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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  • 15. Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome.
    Nie K, Huang J, Liu L, Lv H, Chen D, Fan W.
    Front Genet; 2022 Feb; 13():828120. PubMed ID: 35401677
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  • 16. 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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  • 17. Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.
    Winer N, Kyndt F, Paumier A, David A, Isidor B, Quentin M, Jouitteau B, Sanyas P, Philippe HJ, Hernandez A, Krakow D, Le Caignec C.
    Prenat Diagn; 2009 Feb; 29(2):172-4. PubMed ID: 19085972
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  • 20. Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
    Johnston JJ, Wen KK, Keppler-Noreuil K, McKane M, Maiers JL, Greiner A, Sapp JC, NIH Intramural Sequencing Center, Demali KA, Rubenstein PA, Biesecker LG.
    Hum Mutat; 2013 Sep; 34(9):1242-9. PubMed ID: 23649928
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