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Journal Abstract Search

186 related items for PubMed ID: 23649928

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  • 2. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
    Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB.
    Nat Genet; 2012 Feb 26; 44(4):440-4, S1-2. PubMed ID: 22366783
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  • 3. A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.
    Graziani L, Cinnirella G, Ferradini V, Conte C, Bascio FL, Bengala M, Sangiuolo F, Novelli G.
    Am J Med Genet A; 2023 Jun 26; 191(6):1565-1569. PubMed ID: 36810952
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  • 4. 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 26; 50(6):818-824. PubMed ID: 33334799
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  • 7. Baraitser-Winter cerebrofrontofacial syndrome.
    Yates TM, Turner CL, Firth HV, Berg J, Pilz DT.
    Clin Genet; 2017 Jul 26; 92(1):3-9. PubMed ID: 27625340
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  • 8. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
    Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR, DDD StudyWellcome Trust Sanger Institute, CB10 1SA Cambridge, UK., Woolf AS, Banka S.
    Am J Hum Genet; 2017 Dec 07; 101(6):1021-1033. PubMed ID: 29220674
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  • 9. New ocular finding in Baraitser-Winter syndrome (BWS).
    Rall N, Leon A, Gomez R, Daroca J, Lacassie Y.
    Eur J Med Genet; 2018 Jan 07; 61(1):21-23. PubMed ID: 29024830
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  • 10. Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
    Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A.
    Eur J Hum Genet; 2014 Feb 07; 22(2):179-83. PubMed ID: 23756437
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  • 14. 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 Feb 07; 38(2):152-156. PubMed ID: 27096712
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  • 15. 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 07; 23(3):292-301. PubMed ID: 25052316
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  • 16. 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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  • 17. 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 08; 182(9):2124-2128. PubMed ID: 32588558
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  • 18. 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 Sep 08; 13():828120. PubMed ID: 35401677
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  • 19. 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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  • 20. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
    Dhamija R, Graham JM, Smaoui N, Thorland E, Kirmani S.
    Eur J Med Genet; 2014 Mar 08; 57(4):181-4. PubMed ID: 24583203
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