J. Hoovers

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Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.

A. Feinberg, D. Schlessinger, P. Taillon-Miller, 1995, Proceedings of the National Academy of Sciences of the United States of America.

First‐trimester non‐invasive prenatal diagnosis of triploidy

H. Zondervan, C. Bilardo, M. Jakobs, 1999, Prenatal Diagnosis.

Flow cytometric detection of chromosome abnormalities by measuring centromeric index, DNA content, and DNA base composition.

E M Manders, J A Aten, J. Aten, 1994, Analytical cellular pathology : the journal of the European Society for Analytical Cellular Pathology.

The importance of DNA analysis in sporadic aniridia

M. Mannens, E. Bleeker-Wagemakers, M. Mäntyjärvi, 1993, Acta ophthalmologica.

The distal region of 11p13 and associated genetic diseases.

C. Junien, G. Saunders, B. Williams, 1991, Genomics.

Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization

J. Wiegant, M. Jakobs, J. Hoovers, 1993, Prenatal diagnosis.

Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion

J. Crolla, J. Kraker, J. Hoovers, 2007, Journal of Medical Genetics.

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

R. Hennekam, C. V. van Karnebeek, P. Barth, 2005, American journal of mental retardation : AJMR.

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

R. Hennekam, R. Trembath, E. Bijlsma, 1999, Journal of medical genetics.

Molecular, Cytogenetic and Linkage Analysis of Chromosome 11p Regions Involved in Wilms’ Tumour and Associated Congenital Diseases

C. Heyting, P. Little, P. Voûte, 1991 .

Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3.

A. Westerveld, M. Alders, M. Mannens, 1995, Cytogenetics and cell genetics.

An integrated physical map of 210 markers assigned to the short arm of human chromosome 11.

S. Gregory, A. Ivens, C. J. van Moorsel, 1994, Genomics.

Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay

M. E. Jacobs, R. Hennekam, C. Aalfs, 1996, Clinical genetics.

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

R. Wanders, L. Ijlst, J. Ruiter, 1996, The Journal of clinical investigation.

Further delineation of the chromosome 14q terminal deletion syndrome.

R. Hennekam, C. V. van Karnebeek, M. Hulsbeek, 2002, American journal of medical genetics.

Replication pattern of the X chromosomes in three X/autosomal translocations.

A. Hagemeijer, D. Bootsma, J. Hoovers, 1977, Cytogenetics and cell genetics.

Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization

Y. Fukushima, N. Niikawa, H. Ohashi, 1993, Human Genetics.

Expression cloning and chromosomal mapping of the leukocyte activation antigen CD97, a new seven-span transmembrane molecule of the secretion receptor superfamily with an unusual extracellular domain.

E. Hartmann, R. V. van Lier, M. Strauss, 1995, Journal of immunology.

Holoprosencephaly associated with ring chromosome 21

J. Hoovers, M. Jansweijer, 1987, Clinical genetics.

A male infant with holoprosencephaly, associated with ring chromosome 21

P. Barth, D. Aronson, J. Hoovers, 1987, Clinical genetics.

Human synaptonemal complex protein 1 ( SCP 1 ) : isolation and characterization of the cDNA and chromosomal localization in the gene

C. Heyting, I. Meerts, R. Meuwissen, 1997 .

High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered.

P F Little, D J Porteous, D. Porteous, 1992, Genomics.

Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter.

P. Little, A. Hadjantonakis, A. Harmar, 1997, Genomics.

Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family.

C. Heyting, A. Westerveld, M. Mannens, 1989, Cytogenetics and cell genetics.

Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome.

H Skaletsky, L. Brown, D. Page, 2000, Genomics.

An aetiological study of 25 mentally retarded adults with autism [research letter]

P. Vreken, R. Hennekam, C. V. van Karnebeek, 2002 .

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

P. Vreken, R. Hennekam, N. Abeling, 2002 .

Assignment of the human RT6 gene to 11q13 by PCR screening of somatic cell hybrids and in situ hybridization.

K. Grzeschik, F. Koch-Nolte, V. van Heyningen, 1993, Genomics.

Reduced copy number of DAZ genes in subfertile and infertile men.

S. Repping, F. van der Veen, M. Hoffer, 2002, Fertility and sterility.

High-resolution in situ hybridization using DNA halo preparations.

J. Wiegant, L. Mullenders, S. Brookes, 1992, Human molecular genetics.

Partial trisomy and monosomy 8p due to inversion duplication

M. E. Jacobs, J. Fryns, J. Engelen, 1994, Clinical genetics.

FISH mapping of three ammonia metabolism genes (Glul, Cps1, Glud1) in rat, and the chromosomal localization of GLUL in human and Cps1 in mouse

K. Klinga-Levan, K. Helou, G. Levan, 1997, Mammalian Genome.

Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia

A. Feinberg, R. Weksberg, N. Niikawa, 1994, European journal of human genetics : EJHG.

Progression from colorectal adenoma to carcinoma is associated with non-random chromosomal gains as detected by comparative genomic hybridisation.

P. V. van Diest, M. Hermsen, J. Walboomers, 1998, Journal of clinical pathology.

Genetic Alterations in Childhood Medulloblastoma Analyzed by Comparative Genomic Hybridization

F. Baas, P. Voûte, J. Baak, 2002, Journal of pediatric hematology/oncology.

Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6.

R. Hennekam, J. Hoovers, E. de Boer, 1998, American journal of medical genetics.

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism

R. Hennekam, E. Sistermans, K. Writzl, 2007, American journal of medical genetics. Part A.

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

B. Ylstra, L. Zoetekouw, R. Hennekam, 2009, Human Genetics.

Morphological transformation by early region human polyomavirus BK DNA of human fibroblasts with deletions in the short arm of one chromosome 11.

C. Heyting, M. Mannens, C. Sol, 1988, The Journal of general virology.

Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors.

A. Feinberg, P. Little, M. Steenman, 1996, Medical and pediatric oncology.

FISH analysis of fetal nucleated red blood cells from CVS washings in cases of aneuploidy

J. V. van Lith, A. C. Knegt, J. Hoovers, 2001, Prenatal diagnosis.

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

R. Hennekam, D. Smeets, C. V. van Karnebeek, 2002, Journal of medical genetics.

Imprinting and Beckwith-Wiedemann syndrome

M. Mannens, J. Hoovers, A. Dietrich, 1992, The Lancet.

Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling

M. Morris, J. Hoovers, C. DeLozier-Blanchet, 1995, Clinical genetics.

Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion

R. Hennekam, F. Wijburg, J. Hoovers, 1996, Clinical genetics.

High-resolution chromosomal localization of the human calcitonin/CGRP/IAPP gene family members.

F. Speleman, N. Van Roy, A. Westerveld, 1993, Genomics.

Mosaic 47,XY, + 8/48,XXYY in a mentally non‐retarded man with phenotypical and neurological abnormalities

M. Visser, J. Hoovers, J. Oorthuys, 1989, Clinical genetics.

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?

R. Hennekam, C. Aalfs, V. van Heyningen, 1997, American journal of medical genetics.

Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAs.

E. Schuuring, J. Wiegant, A. Raap, 1993, Cytogenetics and cell genetics.

Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation

H. Tanke, H. Vrolijk, J. Wiegant, 2003, European Journal of Human Genetics.

An integrated map of chromosome 18 CAG trinucleotide repeat loci

K. Lindblad, F. Baas, J. Belleroche, 1999, European Journal of Human Genetics.

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization

R. Hennekam, I. M. Langen, D. Aronson, 1996, Clinical genetics.

Late-replicating ring X-chromosomes identified by r-banding after BrdU pulse

A. Hagemeijer, D. Bootsma, J. Hoovers, 1976, Human Genetics.

Enrichment, identification and analysis of fetal cells from maternal blood: evaluation of a prenatal diagnosis system

M. Jakobs, J. Hoovers, I. D. de Graaf, 1999, Prenatal diagnosis.

Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family

C. Junien, M. Gessler, M. Mannens, 1993, Genes, chromosomes & cancer.

Further delineation of the partial proximal trisomy 10q syndrome.

R. Hennekam, M. Mannens, C. Aalfs, 1995, Journal of medical genetics.

Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

R. Hennekam, S. Maas, J. Hoovers, 2000, Clinical dysmorphology.

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features

T. Kleefstra, D. Smeets, G. Merkx, 2000, European Journal of Human Genetics.

The generation of ordered sets of cosmid DNA clones from human chromosome region 11p.

S. Gregory, A. Ivens, D. Porteous, 1992, Genomics.

Celsr 1 , a Neural-Specific Gene Encoding an Unusual Seven-Pass Transmembrane Receptor , Maps to Mouse Chromosome 15 and Human Chromosome 22 qter

P. Little, A. Hadjantonakis, A. Harmar, 1997 .

Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: A recognizable syndrome

R. Hennekam, I. B. Mathijssen, A. Mul, 2005, American journal of medical genetics. Part A.

Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome.

C. Aalfs, F. Wijburg, J. Hoovers, 1999, American journal of medical genetics.

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

P. Vreken, R. Hennekam, N. Abeling, 2002 .

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

R. Hennekam, D. Smeets, E. Bijlsma, 2002, Journal of medical genetics.