Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Lower, Karen M, Lütcherath, Viggo, Gécz, Jozef, Frints, Suzanna G.M, Partington, Michael, Strømme, Petter, Scheffer, Ingrid E, Gedeon, Ági K, Lewis, Suzanne M.E, Turner, Gillian, Fryns, Jean-Pierre, Sutherland, Grant R, Wallace, Robyn H, Mangelsdorf, Marie E, Shaw, Marie A, Mulley, John C, Bruyere, Helene
Published in Nature genetics (01.04.2002)
Published in Nature genetics (01.04.2002)
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Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome
de Vries, Bert B. A, Ross, Shelley, Gécz, Jozef, Grompe, Markus, Clayton-Smith, Jill, Stewart, Helen, Lampe, Anne K, Gedeon, Ági K, White, Susan M, Thomas, Paul, Mulley, John C, Lower, Karen M, Turner, Gillian, Mathews, Katherine D, Schelley, Susan, van Ravenswaay, Conny M. A, Kerr, Bronwyn A, Shaw, Marie A, Hoyme, H. Eugene, Delatycki, Martin B, Cox, Barbara
Published in Nature genetics (01.12.2002)
Published in Nature genetics (01.12.2002)
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Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
Crawford, J, Lower, K M, Hennekam, R C M, Van Esch, H, Mégarbané, A, Lynch, S A, Turner, G, Gécz, J
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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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, J Clayton, Kerr, B, Schelley, S, Hoyme, HE, De Vries, BBA, Kleefstra, T, Grompe, M, Cox, B, Gecz, J, Partington, M
Published in Clinical genetics (01.03.2004)
Published in Clinical genetics (01.03.2004)
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1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
LOWER, Karen M, SOLDERS, Göran, GECZ, Jozef, BONDESON, Marie-Louise, NELSON, John, BRUN, Arne, CRAWFORD, Joanna, MALM, Gunilla, BÖRJESON, Mats, TURNER, Gillian, PARTINGTON, Michael
Published in European journal of human genetics : EJHG (01.10.2004)
Published in European journal of human genetics : EJHG (01.10.2004)
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Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome
Baumstark, A, Lower, K M, Sinkus, A, Andriuškevičiūtė, I, Jurkėnienė, L, Gécz, J, Just, W
Published in Journal of medical genetics (01.04.2003)
Published in Journal of medical genetics (01.04.2003)
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1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
Lower, Karen M, Solders, Göran, Bondeson, Marie-Louise, Nelson, John, Brun, Arne, Crawford, Joanna, Malm, Gunilla, Börjeson, Mats, Turner, Gillian, Partington, Michael, Gecz, Jozef
Published in European journal of human genetics : EJHG (2004)
Published in European journal of human genetics : EJHG (2004)
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Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer
WHITMORE, S. A, SETTASATIAN, C, MATHEW, C. G, SAVNIO, M, SAVOIA, A, VERLANDER, P, AUERBACH, A. D, VAN BERKEL, C, PRONK, J. C, DOGGETT, N. A, CALLEN, D. F, CRAWFORD, J, LOWER, K. M, MCCALLUM, B, SESHADRI, R, CORNELISSE, C. J, MOERLAND, E. W, CLETON-JANSEN, A.-M, TIPPING, A. J
Published in Genomics (San Diego, Calif.) (15.09.1998)
Published in Genomics (San Diego, Calif.) (15.09.1998)
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1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family
Lower, KM, Solders, G, Bondeson, ML, Nelson, J, Brun, Arne, Crawford, J, Malm, G, Borjeson, M, Turner, G, Partington, M, Gecz, J
Published in European journal of human genetics : EJHG (2004)
Published in European journal of human genetics : EJHG (2004)
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