Publications 2006

Large scale Genome variation in health and disease. Geurts van Kessel A.
Cytogenetic and Genome research 115 (3-4): 193-312 (2006). Special Issue

In Search of Disease Genes. Array CGH as a Molecular Diagnostic Tool. Janssen IM, Smeets D, and Veltman JA.
The Journal of the Association of Genetic Technologists: 32 (4) 2006

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene . Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van KA, de Vries BB, Brunner HG, Hoefsloot LH, and van Ravenswaaij CM.
J.Med.Genet., 43: 306-314 (2006)


Novel candidate tumour suppressor gene loci on chromosomes 11q23-24 and 22q13 involved in human insulinoma tumourigenesis. Jonkers YM, Claessen SM, Feuth T, Geurts van Kessel A, Ramaekers FC, Veltman JA, and Speel EJ.
J.Pathol., 210: 450-458 (2006).


Molecular parameters associated with insulinoma progression: chromosomal instability versus p53 and CK19 status Jonkers YM, Claessen SM, Veltman JA, Geurts van Kessel A, Dinjens WN, Skogseid B, Ramaekers FC, and Speel EJ.
Cytogenet.Genome Res., 115: 289-297 (2006).


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, and de Vries BB.
Am.J.Med.Genet.A, 140: 618-623 (2006).


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, Geurts van Kessel A, Sistermans EA, Veltman JA, Brunner HG, and de Vries BB.
Nat.Genet., 38: 999-1001 (2006).


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, and de Vries BB.
J.Hum.Genet., 51: 721-726 (2006).


Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, and Yntema HG.
J.Med.Genet., 43: 362-370 (2006).


Identification of tumor-specific molecular signatures in intracranial ependymoma and association with clinical characteristics. Modena P, Lualdi E, Facchinetti F, Veltman J, Reid JF, Minardi S, Janssen I, Giangaspero F, Forni M, Finocchiaro G, Genitori L, Giordano F, Riccardi R, Schoenmakers EF, Massimino M, and Sozzi G.
J.Clin.Oncol., 24: 5223-5233 (2006).


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 HM, Sistermans EA, Veltman JA, and de Vries BB.
Clin.Dysmorphol., 15: 133-137 (2006).


Diagnostic genome profiling: unbiased whole genome or targeted analysis. Veltman JA and de Vries BB.
J.Mol.Diagn., 8: 534-537 (2006).


Genomic microarrays in clinical diagnosis. Veltman JA.
Curr.Opin.Pediatr., 18: 598-603 (2006).