Skeletal dysplasias

بواسطة Brook, C, de Vries, B B A
منشور في 1998

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

بواسطة DE VRIES, B. B A, KNIGHT, S., HOMFRAY, T., SMITHSON, S., FLINT, J., WINTER, R.
منشور في 2001

Telomeres: a diagnosis at the end of the chromosomes

بواسطة De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-A..., C
منشور في 2003

Dilemmas in counselling females with the fragile X syndrome

بواسطة de Vries, B. B A, van den Boer-van, ... H. M A, Niermeijer, M., Tibben, A.
منشور في 1999

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

بواسطة de Vries, B B A, Severijnen, L, Jacobs, A, Olmer, R, Halley, D, Oostra, B, Willemsen, R
منشور في 2003

Fragile X syndrome: of POF and premutations

بواسطة MACPHERSON, J., MURRAY, A., WEBB, J., JACOBS, P., DE VRIES, B. B A, HALLEY, D., OOSTRA, B., NIERMEIJER, M.
منشور في 1999

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

بواسطة Vulto-van Silfhout, A.T., de Brouwer, A.F.M., de Leeuw, N., Obihara, C.C., Brunner, H.G., de Vries, B.B.A.
منشور في 2012

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

بواسطة 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.
منشور في 1999

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

بواسطة 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
منشور في 2001

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

بواسطة 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
منشور في 2004

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

بواسطة 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
منشور في 2005

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

بواسطة 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.
منشور في 2007

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

بواسطة 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
منشور في 2006

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

بواسطة 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
منشور في 2006

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

بواسطة 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
منشور في 2008

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

بواسطة 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.
منشور في 2009