N. Maas

发表

Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis

Bart De Moor, Frank Speleman, Björn Menten, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

A dysmorphic boy with 4qter deletion and 4q32.3‐34.3 duplication: Clinical, cytogenetic, and molecular findings

J. Vermeesch, J. Fryns, N. Maas, 2004, American journal of medical genetics. Part A.

Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies

Y. Moreau, K. Devriendt, G. Mortier, 2006 .

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

K. Devriendt, J. Vermeesch, K. Kok, 2007, Journal of Medical Genetics.

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

G Mortier, Y Moreau, B De Moor, 2006, Journal of Medical Genetics.

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

T. de Ravel, K. Devriendt, J. Vermeesch, 2006, Cytogenetic and Genome Research.

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

K. Devriendt, J. Vermeesch, J. Fryns, 2009, BMJ Case Reports.

Microarray Comparative Genome Hybridization in mental retardation / congenital malformations

N. Maas, 2008 .

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

K. Devriendt, J. Vermeesch, J. Fryns, 2007, Journal of Medical Genetics.

4q35 deletion and 10p15 duplication associated with immunodeficiency

Z. Tümer, N. Tommerup, H. Ropers, 2006, American journal of medical genetics. Part A.

The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.

S. van Vooren, Y. Moreau, K. Devriendt, 2007, Genetic counseling.

Wolf–Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

J. Fryns, J. Pilch, P. Iwanowski, 2011, American journal of medical genetics. Part A.

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

T. de Ravel, K. Devriendt, J. Vermeesch, 2007, European heart journal.

Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q.

J. Vermeesch, B. Thienpont, J. Fryns, 2006, Genetic counseling.

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

K. Devriendt, J. Vermeesch, K. Kok, 2007, Journal of Medical Genetics.

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

J. Vermeesch, J. Fryns, C. V. van Ravenswaaij-Arts, 2005, European journal of medical genetics.