Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome
de Ravel, Thomy J.L, Ameye, Liliane, Ballon, Katleen, Borghgraef, Martine, Vermeesch, Joris R, Devriendt, Koen
Published in European journal of medical genetics (01.03.2009)
Published in European journal of medical genetics (01.03.2009)
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Autism Spectrum Disorder Profile in Neurofibromatosis Type I
Garg, Shruti, Plasschaert, Ellen, Descheemaeker, Mie-Jef, Huson, Susan, Borghgraef, Martine, Vogels, Annick, Evans, D. Gareth, Legius, Eric, Green, Jonathan
Published in Journal of autism and developmental disorders (01.06.2015)
Published in Journal of autism and developmental disorders (01.06.2015)
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The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder
van Rijn, Sophie, Stockmann, Lex, Borghgraef, Martine, Bruining, Hilgo, van Ravenswaaij-Arts, Conny, Govaerts, Lutgarde, Hansson, Kerstin, Swaab, Hanna
Published in Journal of autism and developmental disorders (01.02.2014)
Published in Journal of autism and developmental disorders (01.02.2014)
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The social behavioral phenotype in boys and girls with an extra X chromosome
van Rijn, Sophie, Stockmann, Lex, Borghgraef, Martine, Bruining, Hilgo, van Ravenswaaij-Arts, Conny, Govaerts, Lutgarde, Hansson, Kerstin, Swaab, Hanna
Published in Journal of autism and developmental disorders (01.02.2014)
Published in Journal of autism and developmental disorders (01.02.2014)
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Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia
VAN ESCH, Hilde, DOM, Rene, BEX, Dorien, SALDEN, Ivo, CAECKEBEKE, Jo, WIBAIL, Alain, BORGHGRAEF, Martine, LEGIUS, Eric, FRYNS, Jean-Pierre, MATTHIJS, Gert
Published in European journal of human genetics : EJHG (01.01.2005)
Published in European journal of human genetics : EJHG (01.01.2005)
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Journal Article
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome: Emerging Microdeletion and Microduplication Syndromes
DE RAVEL, Thomy J. L, AMEYE, Liliane, BALLON, Katleen, BORGHGRAEF, Martine, VERMEESCH, Joris R, DEVRIENDT, Koen
Published in European journal of medical genetics (2009)
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Published in European journal of medical genetics (2009)
Journal Article
Molecular karyotyping is important in determining the cause of behavioural phenotypes
De Ravel, T. J. L., Swillen, A., Willekens, D., Descheemaeker, M.-J., Govers, V., Borghgraef, M., Vermeesch, J. R., Fryns, J.-P.
Published in Journal of intellectual disability research (01.10.2008)
Published in Journal of intellectual disability research (01.10.2008)
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X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
Van Esch, Hilde, Zanni, Ginevra, Holvoet, Maureen, Borghgraef, Martine, Chelly, Jamel, Fryns, Jean-Pierre, Devriendt, Koenraad
Published in European journal of medical genetics (01.04.2005)
Published in European journal of medical genetics (01.04.2005)
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Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene
Frints, Suzanna G.M., Jun, Lin, Fryns, Jean‐Pierre, Devriendt, Koen, Teulingkx, Rudi, Berghe, Lut Van den, Vos, Bernice De, Borghgraef, Martine, Chelly, Jamel, Portes, Vincent Des, Bokhoven, Hans Van, Hamel, Ben, Ropers, Hans‐Hilger, Kalscheuer, Vera, Raynaud, Martine, Moraine, Claude, Marynen, Peter, Froyen, Guy
Published in American journal of medical genetics. Part A (15.06.2003)
Published in American journal of medical genetics. Part A (15.06.2003)
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Journal Article
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
VANESCH, H, ZANNI, G, HOLVOET, M, BORGHGRAEF, M, CHELLY, J, FRYNS, J, DEVRIENDT, K
Published in Annales de génétique (10.11.2004)
Published in Annales de génétique (10.11.2004)
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Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis
Fisch, G S, Carpenter, N, Holden, J J, Howard-Peebles, P N, Maddalena, A, Borghgraef, M, Steyaert, J, Fryns, J P
Published in American journal of medical genetics (02.04.1999)
Published in American journal of medical genetics (02.04.1999)
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New findings in the behavioral profile of young FraX females
Borghgraef, M, Umans, S, Steyaert, J, Legius, E, Fryns, J P
Published in American journal of medical genetics (09.08.1996)
Published in American journal of medical genetics (09.08.1996)
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Journal Article
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene
Frints, Suzanna G.M., Jun, Lin, Fryns, Jean-Pierre, Devriendt, Koen, Teulingkx, Rudi, Berghe, Lut Van den, Vos, Bernice De, Borghgraef, Martine, Chelly, Jamel, Portes, Vincent Des, Bokhoven, Hans Van, Hamel, Ben, Ropers, Hans-Hilger, Kalscheuer, Vera, Raynaud, Martine, Moraine, Claude, Marynen, Peter, Froyen, Guy
Published in American Journal of Medical Genetics Part A (15.06.2003)
Published in American Journal of Medical Genetics Part A (15.06.2003)
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9th international workshop on fragile X syndrome and X-linked mental retardation
Fryns, J P, Borghgraef, M, Brown, T W, Chelly, J, Fisch, G S, Hamel, B, Hanauer, A, Lacombe, D, Luo, L, MacPherson, J N, Mandel, J L, Moraine, C, Mulley, J, Nelson, D, Oostra, B, Partington, M, Ramakers, G J, Ropers, H H, Rousseau, F, Schwartz, C, Steinbach, P, Stoll, C, Tranebjaerg, L, Turner, G, Van Bokhoven, H, Vianna-Morgante, A
Published in American journal of medical genetics (23.10.2000)
Published in American journal of medical genetics (23.10.2000)
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Longitudinal changes in IQ among fragile X females: a preliminary multicenter analysis
Fisch, G S, Simensen, R, Arinami, T, Borghgraef, M, Fryns, J P
Published in American journal of medical genetics (15.07.1994)
Published in American journal of medical genetics (15.07.1994)
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