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Journal Abstract Search

115 related items for PubMed ID: 3593038

  • 1. [Börjeson-Forssman-Lehmann syndrome: report of a case].
    Wojciechowski M, Dutra-Filho CS, Da Costa AC, Laser LF, Giugliani R, Rotta NT, Ohlweiler L.
    Arq Neuropsiquiatr; 1986 Sep; 44(3):289-92. PubMed ID: 3593038
    [Abstract] [Full Text] [Related]

  • 2. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
    Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D.
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957
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  • 3. [Börjeson-Forssman-Lehmann syndrome].
    Kubota T.
    Ryoikibetsu Shokogun Shirizu; 2001 Sep; (33):284-5. PubMed ID: 11462441
    [No Abstract] [Full Text] [Related]

  • 4. 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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  • 5. Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.
    Weber FT, Frias JL, Julius RL, Felman AH.
    J Med Genet; 1978 Feb; 15(1):63-6. PubMed ID: 564968
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  • 6. 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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  • 7. 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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  • 8. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
    Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M.
    Clin Genet; 2004 Mar; 65(3):226-32. PubMed ID: 14756673
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  • 14. 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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  • 15. Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.
    Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L, Gécz J, Just W.
    J Med Genet; 2003 Apr; 40(4):e50. PubMed ID: 12676923
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  • 16. Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
    Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C.
    Clin Genet; 2022 Sep; 102(3):182-190. PubMed ID: 35662002
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  • 17. Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family.
    Petridou M, Kimiskidis V, Deligiannis K, Kazis A.
    Clin Neurol Neurosurg; 1997 May; 99(2):148-50. PubMed ID: 9213062
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  • 19. The Börjeson-Forssman-Lehmann syndrome: a new case.
    Veall RM, Brett EM, Rivinus TM, Stephens R.
    J Ment Defic Res; 1979 Dec; 23(4):231-42. PubMed ID: 537034
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