Skeletal dysplasias

por Brook, C, de Vries, B B A
Publicado 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 2001

Telomeres: a diagnosis at the end of the chromosomes

por De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-A..., C
Publicado 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 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 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 1999

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 2012

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 1999

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 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 2004

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 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 2007

Chromosomal copy number changes in patients with non‐syndromic X linked mental retardation detected by array CGH

por Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander‐Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G
Publicado 2006

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

por Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, van Kessel, A Geurts, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A
Publicado 2006

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

por Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Aa, N Van der, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A
Publicado 2008

Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome

por van Bon, B.W.M., Mefford, H.C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W.M., Innis, J.W., de Ravel, T.J.L., Mercer, C.L., Fichera, M., Stewart, H., Connell, L. E., Õunap, K., Lachlan, K., Castle, B., Van der Aa, N., van Ravenswaaij, C., Nobrega, M.A., Serra-Juhé, C, Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E.M., Baker, C., Finnemore, P., Huang, S., Maloney, V.K., Crolla, J.A., van Kalmthout, M., Elia, M., Vandeweyer, G., Fryns, J.P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, B., Woods, C.G., Oostra, A., Speleman, F., Pereira, A.C., Kurg, A., Willatt, L., Knight, S.J.L., Vermeesch, J.R., Romano, C., Barber, J.C., Mortier, G., Pérez-Jurado, L.A., Kooy, F., Brunner, H.G., Eichler, E.E., Kleefstra, T., de Vries, B.B.A.
Publicado 2009