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Journal Abstract Search

584 related items for PubMed ID: 25099957

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  • 2. A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
    Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D.
    J Med Genet; 2013 Dec; 50(12):838-47. PubMed ID: 24092917
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  • 3. Distinct phenotype of PHF6 deletions in females.
    Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K.
    Eur J Med Genet; 2014 Feb; 57(2-3):85-9. PubMed ID: 24380767
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  • 5. Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
    Jahani-Asl A, Cheng C, Zhang C, Bonni A.
    Neurobiol Dis; 2016 Dec; 96():227-235. PubMed ID: 27633282
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  • 6. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
    Kosho T, Okamoto N, Coffin-Siris Syndrome International Collaborators.
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):262-75. PubMed ID: 25168959
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  • 7. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
    Campeau PM, Hennekam RC, DOORS syndrome collaborative group.
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):327-32. PubMed ID: 25169651
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  • 8. Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.
    Kasper BS, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C.
    Epilepsy Behav; 2017 Apr; 69():104-109. PubMed ID: 28237832
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  • 10. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
    Carter MT, Picketts DJ, Hunter AG, Graham GE.
    Am J Med Genet A; 2009 Feb; 149A(2):246-50. PubMed ID: 19161141
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  • 16. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
    Kosho T, Miyake N, Carey JC.
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):241-51. PubMed ID: 25169878
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  • 17. Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
    Ahmed R, Sarwar S, Hu J, Cardin V, Qiu LR, Zapata G, Vandeleur L, Yan K, Lerch JP, Corbett MA, Gecz J, Picketts DJ.
    Hum Mol Genet; 2021 May 12; 30(7):575-594. PubMed ID: 33772537
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  • 18. A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
    Bellad A, Bandari AK, Pandey A, Girimaji SC, Muthusamy B.
    J Mol Neurosci; 2020 Sep 12; 70(9):1403-1409. PubMed ID: 32399860
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  • 19. Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.
    Cheng C, Deng PY, Ikeuchi Y, Yuede C, Li D, Rensing N, Huang J, Baldridge D, Maloney SE, Dougherty JD, Constantino J, Jahani-Asl A, Wong M, Wozniak DF, Wang T, Klyachko VA, Bonni A.
    Cell Rep; 2018 Nov 06; 25(6):1404-1414.e6. PubMed ID: 30403997
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  • 20. Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
    McRae HM, Leong MPY, Bergamasco MI, Garnham AL, Hu Y, Corbett MA, Whitehead L, El-Saafin F, Sheikh BN, Wilcox S, Hannan AJ, Gécz J, Smyth GK, Thomas T, Voss AK.
    PLoS Genet; 2024 Oct 06; 20(10):e1011428. PubMed ID: 39405291
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