The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis.

Por De Vries, B B, Niermeijer, M F
Publicado em 1994

Skeletal dysplasias

Por Brook, C, de Vries, B B A
Publicado em 1998

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

Por DE VRIES, B. B A, KNIGHT, S., HOMFRAY, T., SMITHSON, S., FLINT, J., WINTER, R.
Publicado em 2001

The fragile X syndrome.

Por de Vries, B B, Halley, D J, Oostra, B A, Niermeijer, M F
Publicado em 1998

Telomeres: a diagnosis at the end of the chromosomes

Por De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-A..., C
Publicado em 2003

Dilemmas in counselling females with the fragile X syndrome

Por de Vries, B. B A, van den Boer-van, ... H. M A, Niermeijer, M., Tibben, A.
Publicado em 1999

FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics

Por de Vries, B B A, Severijnen, L, Jacobs, A, Olmer, R, Halley, D, Oostra, B, Willemsen, R
Publicado em 2003

Fragile X syndrome: of POF and premutations

Por MACPHERSON, J., MURRAY, A., WEBB, J., JACOBS, P., DE VRIES, B. B A, HALLEY, D., OOSTRA, B., NIERMEIJER, M.
Publicado em 1999

DNA testing for fragile X syndrome: implications for parents and family.

Por van Rijn, M A, de Vries, B B, Tibben, A, van den Ouweland, A M, Halley, D J, Niermeijer, M F
Publicado em 1997

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

Por Vulto-van Silfhout, A.T., de Brouwer, A.F.M., de Leeuw, N., Obihara, C.C., Brunner, H.G., de Vries, B.B.A.
Publicado em 2012

Noninvasive test for fragile X syndrome, using hair root analysis.

Por Willemsen, R, Anar, B, De Diego Otero, Y, de Vries, B B, Hilhorst-Hofstee, Y, Smits, A, van Looveren, E, Willems, P J, Galjaard, H, Oostra, B A
Publicado em 1999

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

Por de Vries, B B, Fryns, J P, Butler, M G, Canziani, F, Wesby-van Swaay, E, van Hemel, J O, Oostra, B A, Halley, D J, Niermeijer, M F
Publicado em 1993

Screening for the fragile X syndrome among the mentally retarded: a clinical study

Por de Vries, B. B A, Mohkamsing, S., van den Ouweland, A. M W, Mol, E., Gelsema, K., van Rijn, M., Tibben, A., Halley, D., Duivenvoorden, H., Oostra, B., Niermeijer, M.
Publicado em 1999

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

Por 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
Publicado em 1996

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

Por de Vries, B B A, White, S, Knight, S, Regan, R, Homfray, T, Young, I, Super, M, McKeown, C, Splitt, M, Quarrell, O, Trainer, A, Niermeijer, M, Malcolm, S, Flint, J, Hurst, J, Winter, R
Publicado em 2001

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

Por Koolen, D, Nillesen, W, Versteeg, M, Merkx, G, Knoers, N, Kets, M, Vermeer, S, van Ravenswaaij, C M A, de Kovel, C G, Brunner, H, Smeets, D, de Vries, B B A, Sistermans, E
Publicado em 2004

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

Por de Vries, B B, van den Ouweland, A M, Mohkamsing, S, Duivenvoorden, H J, Mol, E, Gelsema, K, van Rijn, M, Halley, D J, Sandkuijl, L A, Oostra, B A, Tibben, A, Niermeijer, M F
Publicado em 1997

Mental status of females with an FMR1 gene full mutation.

Por de Vries, B. B., Wiegers, A. M., Smits, A. P., Mohkamsing, S., Duivenvoorden, H. J., Fryns, J. P., Curfs, L. M., Halley, D. J., Oostra, B. A., van den Ouweland, A. M., Niermeijer, M. F.
Publicado em 1996

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Por Kleefstra, T, Smidt, M, Banning, M, Oudakker, A, Van Esch, H, de Brouwer, A P M, Nillesen, W, Sistermans, E, Hamel, B, de Bruijn, D, Fryns, J, Yntema, H, Brunner, H, de Vries, B B A, van Bokhoven, H
Publicado em 2005

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

Por Vissers, L. E. L. M., Stankiewicz, P., Yatsenko, S. A., Crawford, E., Creswick, H., Proud, V. K., de Vries, B. B. A., Pfundt, R., Marcelis, C. L. M., Zackowski, J., Bi, W., van Kessel, A. Geurts, Lupski, J. R., Veltman, J. A.
Publicado em 2007