An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
Eussen, Bert H J, Bartalini, Gabriella, Bakker, Lida, Balestri, Paolo, Di Lucca, Carmela, Van Hemel, Jan O, Dauwerse, Hans, van den Ouweland, Ans M W, Ris-Stalpers, Carrie, Verhoef, Senno, Halley, Dicky J J, Fois, Alberto
Published in Journal of medical genetics (01.04.2000)
Published in Journal of medical genetics (01.04.2000)
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Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere
Warburton, Peter E., Dolled, Marisa, Mahmood, Radma, Alonso, Alicia, Li, Shulan, Naritomi, Kenji, Tohma, Takaya, Nagai, Toshiro, Hasegawa, Tomonobu, Ohashi, Hirofumi, Govaerts, Lutgarde C.P., Eussen, Bert H.J., Van Hemel, Jan O., Lozzio, Carmen, Schwartz, Stuart, Dowhanick-Morrissette, Jennifer J., Spinner, Nancy B., Rivera, Horacio, Crolla, John A., Yu, Chih-yu, Warburton, Dorothy
Published in American journal of human genetics (01.06.2000)
Published in American journal of human genetics (01.06.2000)
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Etiological studies of severe or familial hypospadias
Boehmer, A L, Nijman, R J, Lammers, B A, de Coninck, S J, Van Hemel, J O, Themmen, A P, Mureau, M A, de Jong, F H, Brinkmann, A O, Niermeijer, M F, Drop, S L
Published in The Journal of urology (01.04.2001)
Published in The Journal of urology (01.04.2001)
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Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome
Wouters, C H, Meijers-Heijboer, H J, Eussen, B J, van der Heide, A A, van Luijk, R B, van Drunen, E, Beverloo, B B, Visscher, F, Van Hemel, J O
Published in American journal of medical genetics (15.08.2001)
Published in American journal of medical genetics (15.08.2001)
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Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family
de Vries, B B, Jansen, C C, Duits, A A, Verheij, C, Willemsen, R, van Hemel, J O, van den Ouweland, A M, Niermeijer, M F, Oostra, B A, Halley, D J
Published in Journal of medical genetics (01.12.1996)
Published in Journal of medical genetics (01.12.1996)
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CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3)
De Krijger, R R, Mooy, C M, Van Hemel, J O, Sulkers, E J, Kros, J M, Bartelings, M M, Govaerts, L C
Published in Pediatric and developmental pathology (01.11.1999)
Published in Pediatric and developmental pathology (01.11.1999)
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Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation
de Vries, Bert B.A., Wiegers, Agnes M., de Graaff, Esther, Verkerk, Annemieke J.M.H., Van Hemel, Jan O., Halley, Dicky J.J., Fryns, Jean-Pierre, Curfs, Leopold M.G., Niermeijer, Martinus F., Oostra, Ben A.
Published in European journal of human genetics : EJHG (01.01.1993)
Published in European journal of human genetics : EJHG (01.01.1993)
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De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data
Los, F J, Van Hemel, J O, Jacobs, H J, Drop, S L, van Dongen, J J
Published in Journal of medical genetics (01.01.1994)
Published in Journal of medical genetics (01.01.1994)
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DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)
van den Ouweland, A M, van der Est, M N, Wesby-van Swaay, E, Tijmensen, T S, Los, F J, Van Hemel, J O, Hennekam, R C, Meijers-Heijboer, H J, Niermeijer, M F, Halley, D J
Published in Human genetics (01.05.1995)
Published in Human genetics (01.05.1995)
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Partial trisomy 10q: a recognizable syndrome
Klep-de Pater, J M, Bijlsma, J B, de France, H F, Leschot, N J, Duijndam-van den Berge, M, van Hemel, J O
Published in Human genetics (01.01.1979)
Published in Human genetics (01.01.1979)
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The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells
de Graaff, E, de Vries, B B, Willemsen, R, van Hemel, J O, Mohkamsing, S, Oostra, B A, van den Ouweland, A M
Published in American journal of medical genetics (09.08.1996)
Published in American journal of medical genetics (09.08.1996)
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Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)
de Vries, B B, Eussen, B H, van Diggelen, O P, van Der Heide, A, Deelen, W H, Govaerts, L C, Lindhout, D, Wouters, C H, Van Hemel, J O
Published in American journal of medical genetics (19.11.1999)
Published in American journal of medical genetics (19.11.1999)
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DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene
van den Ouweland, A M, de Vries, B B, Bakker, P L, Deelen, W H, de Graaff, E, van Hemel, J O, Oostra, B A, Niermeijer, M F, Halley, D J
Published in American journal of medical genetics (15.07.1994)
Published in American journal of medical genetics (15.07.1994)
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Limited size of the fragile X site shown by fluorescence in situ hybridization
Verkerk, A J, Eussen, B H, Van Hemel, J O, Oostra, B A
Published in American journal of medical genetics (15.04.1992)
Published in American journal of medical genetics (15.04.1992)
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