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Nicole de Leeuw

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Oligonucleotide Array Sequence Analysis

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TOP 3
Bart C W Kuipers; Carlo L M Marcelis; Rolph Pfundt; Anneke T Vulto-van Silfhout; Nicole de Leeuw; Bert B A de Vries
Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.
Willem M A Verhoeven; Ruthy Cohen-Snuijf; Jos I M Egger; Sarina G Kant; Nicole de Leeuw
Phelan-McDermid syndrome: clinical report of a 70-year-old woman.
Farmaditya E P Mundhofir; Willy M Nillesen; Dominique Smeets; Nicole de Leeuw; Sultana M H Faradz; Ben C J Hamel; Tri Indah Winarni; Helger G Yntema; Bregje W M van Bon
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.

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All Publications

2013: Bart C W Kuipers; Carlo L M Marcelis; Rolph Pfundt; Anneke T Vulto-van Silfhout; Nicole de Leeuw; Bert B A de Vries
Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.
Clinical dysmorphology 2013;22(1):18-21.
2013: Willem M A Verhoeven; Ruthy Cohen-Snuijf; Jos I M Egger; Sarina G Kant; Nicole de Leeuw
Phelan-McDermid syndrome: clinical report of a 70-year-old woman.
American journal of medical genetics. Part A 2013;161A(1):158-61.
2012: Farmaditya E P Mundhofir; Willy M Nillesen; Dominique Smeets; Nicole de Leeuw; Sultana M H Faradz; Ben C J Hamel; Tri Indah Winarni; Helger G Yntema; Bregje W M van Bon
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.
Gene 2012;511(2):451-4.
2012: Marjolein H Willemsen; Helger G Yntema; Willy M Nillesen; Rolph Pfundt; Hans van Bokhoven; Arjan P M de Brouwer; Nicole de Leeuw; Bert B A de Vries; Jayne Hehir-Kwa; Tjitske Kleefstra
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.
European journal of medical genetics 2012;55(11):586-98.
2012: David A Koolen; Willy M Nillesen; Alyson Bradbury; Arjan P M de Brouwer; Nicole de Leeuw; Bert B A de Vries; Juliette Dupont; James Steer; Leo P Ten Kate; Simone P A van den Heuvel; Lisenka E L M Vissers; Michael J Parker
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
European journal of human genetics : EJHG 2012;20(7):729-33.
2012: Annet Simons; Birgit Sikkema-Raddatz; Nicole de Leeuw; Rosalind J Hastings; Nicole Claudia Konrad; Jacqueline Schoumans
Genome-wide arrays in routine diagnostics of hematological malignancies.
Human mutation 2012;33(6):941-8.
2012: Willem M A Verhoeven; Jos I M Egger; Ilse Feenstra; Nicole de Leeuw
A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy.
European journal of medical genetics 2012;55(5):358-61.
2012: B H W Faas; Ilse Feenstra; Angelique J A Kooper; Rolph Pfundt; John M G van Vugt; AJ Eggink; Nicole de Leeuw
Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience.
Prenatal diagnosis 2012;32(4):362-70.
2012: Noortje Wa Van de Kerkhof; F M M A van der Heijden; Nicole de Leeuw; Jos Im Egger; Ilse Feenstra; Rolph Pfundt; Gerald Stöber; Willem Ma Verhoeven
Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
Neuropsychiatric disease and treatment 2012;8():295-300.
2011: Jayne Hehir-Kwa; Luis A Pérez Jurado; Rolph Pfundt; Benjamín Rodríguez-Santiago; Jan K Buitelaar; Nicole de Leeuw; Lisenka E L M Vissers; Joris Veltman
De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Journal of medical genetics 2011;48(11):776-8.
2011: M H Willemsen; Helger G Yntema; G Beunders; M Callaghan; Nicole de Leeuw; A Hoischen; N Morrison; J Tolmie; H G Brunner; S T M Keijzers-Vloet; A W M Nieuwint; Willy M Nillesen; J M van Hagen; Tjitske Kleefstra
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
Clinical genetics 2011;80(1):31-8.
2011: Heleen H Arts; Ernie M H F Bongers; Dorus A Mans; Sylvia E C van Beersum; Machteld M Oud; Emine Bolat; Liesbeth Spruijt; Elisabeth A M Cornelissen; Janneke H M Schuurs-Hoeijmakers; Nicole de Leeuw; Valérie Cormier-Daire; Han G Brunner; Nine V A M Knoers; Ronald Roepman
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Journal of medical genetics 2011;48(6):390-5.
2011: Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Rolph Pfundt; Bregje W M van Bon; Nicole de Leeuw; Tjitske Kleefstra; Michèl A Willemsen; Ad Geurts van Kessel; Han G Brunner; Joris A Veltman; Hans van Bokhoven; Arjan P M de Brouwer; Bert B A de Vries
Homozygosity mapping in outbred families with mental retardation.
European journal of human genetics : EJHG 2011;19(5):597-601.
2011: Marjolein H Willemsen; Nicole de Leeuw; Catherine Mercer; Helen Eisenhauer; Joanne Morris; Morag N Collinson; John C K Barber; Stephen T S Lam; Ivan F M Lo; Hanneke Rensen; Annemarie Ferwerda; Ben C J Hamel; Tjitske Kleefstra
Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
American journal of medical genetics. Part A 2011;155A(1):106-12.
2010: Nicole de Leeuw; Saskia Bulk; Andrew Green; Lane Jaeckle-Santos; Linda A Baker; Andrew R Zinn; Tjitske Kleefstra; Jasper J van der Smagt; Angela Maria Vianne Morgante; Bert B A de Vries; Hans van Bokhoven; Arjan P M de Brouwer
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
American journal of medical genetics. Part A 2010;152A(12):3084-90.
2010: Tjitske Kleefstra; Nicole de Leeuw; Roy Wolf; Willy M Nillesen; Gaby Schobers; Hanneke Mieloo; Marjolein Willemsen; Concetta Simona Perrotta; Pino J Poddighe; Ilse Feenstra; Jos Draaisma; Conny van Ravenswaaij-Arts
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.
American journal of medical genetics. Part A 2010;152A(9):2221-9.
2010: B H W Faas; Ineke van der Burgt; A J A Kooper; Rolph Pfundt; Jayne Hehir-Kwa; A P T Smits; Nicole de Leeuw
Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.
Journal of medical genetics 2010;47(9):586-94.
2010: Charlotte W Ockeloen; Nicole de Leeuw; Hanneke Mieloo; Ineke G M Reijnen; Bert B A de Vries
Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome.
Clinical dysmorphology 2010;19(3):137-9.
2009: J H M Schuurs-Hoeijmakers; Sascha Vermeer; B W M van Bon; Rolph Pfundt; Carlo L M Marcelis; Arjan de Brouwer; Nicole de Leeuw; Bert B A de Vries
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.
Journal of medical genetics 2009;46(6):421-3.
2009: Marjolein H Willemsen; Nicole de Leeuw; Rolph Pfundt; Bert B A de Vries; Tjitske Kleefstra
Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.
European journal of medical genetics 2009;52(2-3):134-9.
2009: David A Koolen; Rolph Pfundt; Nicole de Leeuw; Jayne Hehir-Kwa; Willy M Nillesen; Ineke Neefs; Ine Scheltinga; Erik A Sistermans; Dominique Smeets; Han G Brunner; Ad Geurts van Kessel; Joris Veltman; Bert B A de Vries
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.
Human mutation 2009;30(3):283-92.
2009: Mathijs Binkhorst; Nicole de Leeuw; Barto J Otten
A healthy, female chimera with 46,XX/46,XY karyotype.
Journal of pediatric endocrinology & metabolism : JPEM 2009;22(1):97-102.
2008: Brigitte H W Faas; Willy Nillesen; Sascha Vermeer; Daniel Olde Weghuis; Nicole de Leeuw; Arie P T Smits; Conny van Ravenswaaij-Arts
Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.
European journal of medical genetics 2008;51(6):511-9.
2008: Bregje W M van Bon; David A Koolen; Rolph Pfundt; Ineke van der Burgt; Nicole de Leeuw; Bert B A de Vries
Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.
American journal of medical genetics. Part A 2008;146A(9):1225-9.
2008: Nicole de Leeuw; Rolph Pfundt; David A Koolen; I Neefs; I Scheltinga; Hanneke Mieloo; Erik A Sistermans; Willy M Nillesen; Dominique Smeets; Bert B A de Vries; Nine V A M Knoers
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.
Journal of medical genetics 2008;45(2):122-4.
2008: Raveen Shahdadpuri; Bert de Vries; Rolph Pfundt; Nicole de Leeuw; William Reardon
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.
American journal of medical genetics. Part A 2008;146A(2):233-7.
2007: Joris R Vermeesch; Heike Fiegler; Nicole de Leeuw; Karoly Szuhai; Jacqueline Schoumans; Roberto Ciccone; Frank Speleman; Anita Rauch; Jill Clayton-Smith; Conny van Ravenswaaij-Arts; Damien Sanlaville; Philippos C Patsalis; Helen V Firth; koenraad devriendt; Orsetta Zuffardi
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
European journal of human genetics : EJHG 2007;15(11):1105-14.
2007: B H W Faas; Nicole de Leeuw; Hanneke Mieloo; Jos Bruinenberg; Bert B A de Vries
Further refinement of the candidate region for monosomy 9p syndrome.
American journal of medical genetics. Part A 2007;143A(19):2353-6.
2007: E Mariken Ruiter; David A Koolen; Tjitske Kleefstra; Willy M Nillesen; Rolph Pfundt; Nicole de Leeuw; Ben C J Hamel; Han G Brunner; Erik A Sistermans; Bert B A de Vries
Pure subtelomeric microduplications as a cause of mental retardation.
Clinical genetics 2007;72(4):362-8.
2007: Sascha Vermeer; David A Koolen; Gepke Visser; Hein J L Brackel; Ineke van der Burgt; Nicole de Leeuw; Michèl A A P Willemsen; Erik A Sistermans; Rolph Pfundt; Bert B A de Vries
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.
Developmental medicine and child neurology 2007;49(5):380-4.
2006: David A Koolen; Lisenka E L M Vissers; Rolph Pfundt; Nicole de Leeuw; Samantha J L Knight; Regina Regan; R Frank Kooy; Edwin Reyniers; Corrado Romano; Marco Fichera; Albert Schinzel; Alessandra Baumer; Britt-Marie Anderlid; Jacqueline Schoumans; Nine V A M Knoers; Ad Geurts van Kessel; Erik A Sistermans; Joris Veltman; Han G Brunner; Bert B A de Vries
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Nature genetics 2006;38(9):999-1001.
2006: Mariken Ruiter; David A Koolen; Rolph Pfundt; Nicole de Leeuw; Harry M J Klinkers; Erik A Sistermans; Joris Veltman; Bert B A de Vries
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.
Clinical dysmorphology 2006;15(3):133-7.
2006: Tjitske Kleefstra; David A Koolen; Willy M Nillesen; Nicole de Leeuw; Ben C J Hamel; Joris Veltman; Erik A Sistermans; Hans van Bokhoven; Conny van Ravenswaay; Bert B A de Vries
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.
American journal of medical genetics. Part A 2006;140(6):618-23.
2005: David A Koolen; Nine V A M Knoers; Willy M Nillesen; Gordon H P R Slabbers; Dominique Smeets; Nicole de Leeuw; Erik A Sistermans; Bert B A de Vries
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.
European journal of human genetics : EJHG 2005;13(11):1169-71.
2001: Nicole de Leeuw; D J Ruiter; A H Balk; N de Jonge; Willem J G Melchers; Jochem M D Galama
Histopathologic findings in explanted heart tissue from patients with end-stage idiopathic dilated cardiomyopathy.
Transplant international : official journal of the European Society for Organ Transplantation 2001;14(5):299-306.
1999: Nicole de Leeuw; Willem J G Melchers; D J Ruiter; A L Caforio; AH Balk; N de Jonge; Jochem M D Galama
Autoimmune markers are undetectable in end stage idiopathic dilated cardiomyopathy.
Journal of clinical pathology 1999;52(10):739-43.
1999: Nicole de Leeuw; Willem J G Melchers; AH Balk; N de Jonge; Jochem M D Galama
Study on microbial persistence in end-stage idiopathic dilated cardiomyopathy.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1999;29(3):522-5.
1998: Nicole de Leeuw; Willem J G Melchers; AH Balk; N de Jonge; Jochem M D Galama
No evidence for persistent enterovirus infection in patients with end-stage idiopathic dilated cardiomyopathy.
The Journal of infectious diseases 1998;178(1):256-9.
1996: Jochem M D Galama; Nicole de Leeuw; S Wittebol; H Peters; Willem J G Melchers
Prolonged enteroviral infection in a patient who developed pericarditis and heart failure after bone marrow transplantation.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1996;22(6):1004-8.