de Vries BB - Search Results

1

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.

Kuipers BC, Vulto-van Silfhout AT, Marcelis C, Pfundt R, de Leeuw N, de Vries BB. Kuipers BC, et al. Among authors: de leeuw n, de vries bb. Clin Dysmorphol. 2013 Jan;22(1):18-21. doi: 10.1097/MCD.0b013e32835b6e39. Clin Dysmorphol. 2013. PMID: 23183317

2

A new case of dup(3q) syndrome due to a pure duplication of 3qter.

Faas BH, De Vries BB, Van Es-Van Gaal J, Merkx G, Draaisma JM, Smeets DF. Faas BH, et al. Among authors: de vries bb. Clin Genet. 2002 Oct;62(4):315-20. doi: 10.1034/j.1399-0004.2002.620411.x. Clin Genet. 2002. PMID: 12372060

3

Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect.

Ruiter EM, Toorman J, Hochstenbach R, de Vries BBA. Ruiter EM, et al. Clin Dysmorphol. 2004 Apr;13(2):99-102. Clin Dysmorphol. 2004. PMID: 15057126

4

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.

Koolen DA, Knoers NV, Nillesen WM, Slabbers GH, Smeets D, de Leeuw N, Sistermans EA, de Vries BB. Koolen DA, et al. Among authors: de leeuw n, de vries bb. Eur J Hum Genet. 2005 Nov;13(11):1169-71. doi: 10.1038/sj.ejhg.5201487. Eur J Hum Genet. 2005. PMID: 16118645 No abstract available.

5

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. de Vries BB, et al. Am J Hum Genet. 2005 Oct;77(4):606-16. doi: 10.1086/491719. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175506 Free PMC article.

6

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB. Kleefstra T, et al. Among authors: de leeuw n, de vries bb. Am J Med Genet A. 2006 Mar 15;140(6):618-23. doi: 10.1002/ajmg.a.31123. Am J Med Genet A. 2006. PMID: 16470689

7

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.

Ruiter M, Koolen DA, Pfundt R, de Leeuw N, Klinkers HMJ, Sistermans EA, Veltman JA, de Vries BBA. Ruiter M, et al. Clin Dysmorphol. 2006 Jul;15(3):133-137. doi: 10.1097/01.mcd.0000220605.94413.bb. Clin Dysmorphol. 2006. PMID: 16760730

8

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BBA. Koolen DA, et al. J Hum Genet. 2006;51(8):721-726. doi: 10.1007/s10038-006-0010-8. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865294

9

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. Koolen DA, et al. Among authors: de leeuw n, de vries bb. Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906164

10

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

Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA. Vissers LE, et al. Among authors: de vries bb. Hum Genet. 2007 Jul;121(6):697-709. doi: 10.1007/s00439-007-0359-6. Epub 2007 Apr 25. Hum Genet. 2007. PMID: 17457615 Free PMC article.

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