C. Wouters

发表

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

B. Oostra, R. Willemsen, T. Zhao, 2011, PloS one.

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

C. I. Zeeuw, C. Hoogenraad, S. Koekkoek, 2007, Neurobiology of Disease.

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

A. Ouweland, S. Verhoef, M. Goedbloed, 2005, European Journal of Human Genetics.

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome

G. Mortier, G. Rappold, E. Bakker, 2007, European Journal of Human Genetics.

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

B. D. de Vries, P. Heutink, B. Oostra, 2003, American journal of medical genetics. Part A.

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

A. V. D. van den Ouweland, S. Hovius, A. de Klein, 2005, Plastic and reconstructive surgery.

A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat.

L. Looijenga, H. Stoop, A. V. van Kessel, 2002, Cancer Genetics and Cytogenetics.

The Use of Comparative Genomic Hybridization and Fluorescent in Situ Hybridization in Postmortem Pathology Investigation of Congenital Malformations

D. Tibboel, A. de Klein, R. D. de Krijger, 2010, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease

S. Verhoef, B. Eussen, Y. Smulders, 2003, Journal of medical genetics.

Ring chromosome 20 epilepsy syndrome in children

W. van Emde Boas, D. Lindhout, C. Wouters, 2001, Neurology.

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

W. Oyen, M. Horstink, B. Oostra, 2009, Neurology.

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.

H. Meijers-Heijboer, F. Visscher, E. van Drunen, 2001, American journal of medical genetics.

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

M. A. Frens, C. I. De Zeeuw, J. N. van der Geest, 2007, Neurobiology of Disease.

The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region.

C. I. Zeeuw, C. Hoogenraad, N. Galjart, 1998, Genomics.

Consecutive or non-consecutive recurrent miscarriage: is there any difference in carrier status?

B. Mol, J. Korevaar, M. Goddijn, 2010, Human reproduction.

Selective chromosome analysis in couples with two or more miscarriages: case-control study

P. Bossuyt, R. Hochstenbach, J. Korevaar, 2005, BMJ : British Medical Journal.

Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome

D. Lindhout, F. Visscher, S. Drop, 2002, Journal of medical genetics.

Phenotype–genotype correlation in a familial IGF1R microdeletion case

A. de Klein, A. Hokken-Koelega, R. Odink, 2009, Journal of Medical Genetics.

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

P. Donahoe, D. Tibboel, C. Lee, 2005, American journal of human genetics.

Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia.

H. Moll, L. Govaerts, C. Wouters, 1999, Annales de genetique.

Early diagnosis of Wolf–Hirschhorn syndrome triggered by a life‐threatening event: Congenital diaphragmatic hernia

D. Tibboel, J. de Klein, M. V. van Dooren, 2004, American journal of medical genetics. Part A.

Incidental finding of alpha‐methylacyl‐CoA racemase deficiency in a patient with oculocutaneous albinism type 4

A. Brooks, C. Wouters, J. Huijmans, 2012, American journal of medical genetics. Part A.

Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.

C. D. De Zeeuw, J. N. van der Geest, J. Gille, 2007, Genetic testing.

Congenital diaphragmatic hernia associated with duplication of 11q23‐qter

R. Hochstenbach, M. Poot, J. Laudy, 2006, American journal of medical genetics. Part A.

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review

D. Tibboel, L. V. van Zutven, D. Van Opstal, 2009, American journal of medical genetics. Part A.

Interstitial 11 q Deletion Derived From a Maternal ins ( 4 ; 11 ) ( p 14 ; q 24 . 2 q 25 ) : A Patient Report and Review

D. Tibboel, L. Zutven, Y. Bever, 2009 .

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

D. Halley, A. V. D. Ouweland, C. Wouters, 2011, European Journal of Human Genetics.

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

P. Pearson, D. Lindhout, B. Poll-The, 2001, European Journal of Human Genetics.

An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)—difficulties in interpretation

D. Halley, R. Galjaard, M. Srebniak, 2008, Prenatal diagnosis.