Breakpoints around the HOXD cluster result in various limb malformations
Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, M, Mundlos, S, Tümer, Z, Kjaer, K, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, Kalscheuer, V M
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain
NOTHWANG, Hans Gerd, KIM, H. G, ARAI, H, TOMMERUP, N, ROPERS, H. H, WIRTH, J, AOKI, J, GEISTERFER, M, KÜBART, S, WEGNER, R. D, VAN MOERS, A, ASHWORTH, L. K, HAAF, T, BELL, J
Published in Human molecular genetics (01.04.2001)
Published in Human molecular genetics (01.04.2001)
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Isolation of Two Novel Human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22
Thiesen, Signe, Kübart, S., Ropers, H.-H., Nothwang, H.G.
Published in Biochemical and biophysical research communications (24.06.2000)
Published in Biochemical and biophysical research communications (24.06.2000)
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DXS6673E Encodes a Predominantly Nuclear Protein, and Its Mouse Ortholog DXHXS6673E Is Alternatively Spliced in a Developmental- and Tissue-Specific Manner
Scheer, Maurice P., van der Maarel, S., Kübart, S., Schulz, A., Wirth, J., Schweiger, S., Ropers, H.-H., Nothwang, H.G.
Published in Genomics (San Diego, Calif.) (01.01.2000)
Published in Genomics (San Diego, Calif.) (01.01.2000)
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Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations
NOTHWANG, H. G, SCHRÖER, A, FRYNS, J.-P, TOMMERUP, N, HAAF, T, ROPERS, H. H, WIRTH, J, VAN DER MAAREL, S, KÜBART, S, SCHNEIDER, S, RIESSELMANN, L, MENZEL, C, HINZMANN, B, VOGT, D, ROSENTHAL, A
Published in Cytogenetic and genome research (01.01.2000)
Published in Cytogenetic and genome research (01.01.2000)
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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation
Kalscheuer, Vera M., Tao, Jiong, Donnelly, Andrew, Hollway, Georgina, Schwinger, Eberhard, Kübart, Sabine, Menzel, Corinna, Hoeltzenbein, Maria, Tommerup, Niels, Eyre, Helen, Harbord, Michael, Haan, Eric, Sutherland, Grant R., Ropers, Hans-Hilger, Gécz, Jozef
Published in American journal of human genetics (01.06.2003)
Published in American journal of human genetics (01.06.2003)
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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome
BORG, Isabella, FREUDE, Kristine, SARGAN, David, KALSCHEUER, Vera M, KÜBART, Sabine, HOFFMANN, Kirsten, MENZEL, Corinna, LACCONE, Franco, FIRTH, Helen, FERGUSON-SMITH, Malcolm A, TOMMERUP, Niels, ROPERS, Hans-Hilger
Published in European journal of human genetics : EJHG (01.08.2005)
Published in European journal of human genetics : EJHG (01.08.2005)
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