Skeletal dysplasias

ανά Brook, C, de Vries, B B A
Έκδοση 1998

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

ανά DE VRIES, B. B A, KNIGHT, S., HOMFRAY, T., SMITHSON, S., FLINT, J., WINTER, R.
Έκδοση 2001

Telomeres: a diagnosis at the end of the chromosomes

ανά De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-A..., C
Έκδοση 2003

Dilemmas in counselling females with the fragile X syndrome

ανά de Vries, B. B A, van den Boer-van, ... H. M A, Niermeijer, M., Tibben, A.
Έκδοση 1999

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

ανά de Vries, B B A, Severijnen, L, Jacobs, A, Olmer, R, Halley, D, Oostra, B, Willemsen, R
Έκδοση 2003

Fragile X syndrome: of POF and premutations

ανά MACPHERSON, J., MURRAY, A., WEBB, J., JACOBS, P., DE VRIES, B. B A, HALLEY, D., OOSTRA, B., NIERMEIJER, M.
Έκδοση 1999

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

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

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

ανά 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.
Έκδοση 1999

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

ανά 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
Έκδοση 2001

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

ανά 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
Έκδοση 2004

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

ανά 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
Έκδοση 2005

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

ανά 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.
Έκδοση 2007

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

ανά 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
Έκδοση 2006

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

ανά 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
Έκδοση 2006

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

ανά 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
Έκδοση 2008

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

ανά 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.
Έκδοση 2009