de Vries BB - Search Results

1

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T. Willemsen MH, et al. Among authors: de vries bb, de ligt j. J Med Genet. 2012 Mar;49(3):179-83. doi: 10.1136/jmedgenet-2011-100542. J Med Genet. 2012. PMID: 22368300

2

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 AM, de Vries BB, Bakker PL, Deelen WH, de Graaff E, van Hemel JO, Oostra BA, Niermeijer MF, Halley DJ. van den Ouweland AM, et al. Among authors: de graaff e, de vries bb. Am J Med Genet. 1994 Jul 15;51(4):482-5. doi: 10.1002/ajmg.1320510437. Am J Med Genet. 1994. PMID: 7943024

3

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

de Vries BB, Fryns JP, Butler MG, Canziani F, Wesby-van Swaay E, van Hemel JO, Oostra BA, Halley DJ, Niermeijer MF. de Vries BB, et al. J Med Genet. 1993 Sep;30(9):761-6. doi: 10.1136/jmg.30.9.761. J Med Genet. 1993. PMID: 8411072 Free PMC article.

4

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.

de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP. de Die-Smulders CE, et al. Am J Med Genet. 1995 Nov 20;59(3):369-74. doi: 10.1002/ajmg.1320590318. Am J Med Genet. 1995. PMID: 8599364 Review.

5

The fragile X syndrome.

de Vries BB, Halley DJ, Oostra BA, Niermeijer MF. de Vries BB, et al. J Med Genet. 1998 Jul;35(7):579-89. doi: 10.1136/jmg.35.7.579. J Med Genet. 1998. PMID: 9678703 Free PMC article. Review.

6

Dilemmas in counselling females with the fragile X syndrome.

de Vries BB, van den Boer-van den Berg HM, Niermeijer MF, Tibben A. de Vries BB, et al. J Med Genet. 1999 Feb;36(2):167-70. J Med Genet. 1999. PMID: 10051021 Free PMC article.

7

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

de Vries BB, Eussen BH, van Diggelen OP, van Der Heide A, Deelen WH, Govaerts LC, Lindhout D, Wouters CH, Van Hemel JO. de Vries BB, et al. Am J Med Genet. 1999 Nov 19;87(2):189-94. doi: 10.1002/(sici)1096-8628(19991119)87:2<189::aid-ajmg12>3.3.co;2-h. Am J Med Genet. 1999. PMID: 10533035

8

Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.

de Vries BB, Mohkamsing S, van den Ouweland AM, Mol E, Gelsema K, van Rijn M, Tibben A, Halley DJ, Duivenvoorden HJ, Oostra BA, Niermeijer MF. de Vries BB, et al. J Med Genet. 1999 Jun;36(6):467-70. J Med Genet. 1999. PMID: 10874635 Free PMC article.

9

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. de Vries BB, et al. J Med Genet. 2001 Mar;38(3):145-50. doi: 10.1136/jmg.38.3.145. J Med Genet. 2001. PMID: 11238680 Free PMC article.

10

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Among authors: de vries bb. Clin Genet. 2002 May;61(5):359-62. doi: 10.1034/j.1399-0004.2002.610507.x. Clin Genet. 2002. PMID: 12081720

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