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Dominique Smeets

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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.
Ingeborg Y Bart; Anke R Schuitema-Dijkstra; Dominique Smeets; Corry M R Weemaes; Esther de Vries
Immunodeficiency in a child with partial trisomy 6p.
Arijit Mukhopadhyay; Jamie M Kramer; Gerard F M Merkx; Dorien Lugtenberg; Dominique Smeets; Merel A W Oortveld; Ellen A W Blokland; Jyoti Agrawal; Annette Schenck; Hans van Bokhoven; Erik Huys; Eric F P M Schoenmakers; Ad Geurts van Kessel; C Erik van Nouhuys; Frans P M Cremers
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.

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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.
2011: Ingeborg Y Bart; Anke R Schuitema-Dijkstra; Dominique Smeets; Corry M R Weemaes; Esther de Vries
Immunodeficiency in a child with partial trisomy 6p.
Acta paediatrica (Oslo, Norway : 1992) 2011;100(8):e92-4.
2010: Arijit Mukhopadhyay; Jamie M Kramer; Gerard F M Merkx; Dorien Lugtenberg; Dominique Smeets; Merel A W Oortveld; Ellen A W Blokland; Jyoti Agrawal; Annette Schenck; Hans van Bokhoven; Erik Huys; Eric F P M Schoenmakers; Ad Geurts van Kessel; C Erik van Nouhuys; Frans P M Cremers
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
Human genetics 2010;128(3):281-91.
2009: M M M Verhagen; W Farid Abdo; Michèl A A P Willemsen; F B L Hogervorst; Dominique Smeets; J A P Hiel; Ewout R Brunt; M A van Rijn; D Majoor Krakauer; R A Oldenburg; Annegien Broeks; J I Last; Laura J van't Veer; M A J Tijssen; A M I Dubois; H P H Kremer; Corry M R Weemaes; A M R Taylor; Marcel van Deuren
Clinical spectrum of ataxia-telangiectasia in adulthood.
Neurology 2009;73(6):430-7.
2009: Ron Hochstenbach; Ellen van Binsbergen; J J M Engelen; Aggie Nieuwint; Abeltje Polstra; Pino Poddighe; Claudia Ruivenkamp; Birgit Sikkema-Raddatz; Dominique Smeets; Martin Poot
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
European journal of medical genetics 2009;52(4):161-9.
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.
2008: Vera Kalscheuer; Ilse Feenstra; Conny van Ravenswaaij-Arts; Dominique Smeets; Corinna Menzel; Reinhard Ullmann; Luciana Musante; Hans-Hilger Ropers
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
American journal of medical genetics. Part A 2008;146A(16):2053-9.
2008: Mariëlle E M Swinkels; Annet Simons; Dominique Smeets; Lisenka E L M Vissers; Joris Veltman; Rolph Pfundt; Bert B A de Vries; B H W Faas; C T R M Schrander-Stumpel; Emma McCann; Elizabeth Sweeney; Paul May; Jos M Th Draaisma; Nine V A M Knoers; Ad Geurts van Kessel; Conny van Ravenswaaij-Arts
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
American journal of medical genetics. Part A 2008;146A(11):1430-8.
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.
2007: Bregje W M van Bon; David A Koolen; Ilse Feenstra; Ineke Neefs; Rolph Pfundt; Dominique Smeets; Bert B A de Vries
Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.
Clinical dysmorphology 2007;16(4):279-82.
2007: JC de Greef; Marielle Wohlgemuth; O A Chan; K B Hansson; Dominique Smeets; Rune R Frants; Corry M R Weemaes; George W Padberg; Silvère M van der Maarel
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
Neurology 2007;69(10):1018-26.
2007: C Schuetz; Gotthold Barbi; Thomas F E Barth; M Hoenig; A Schulz; P Möeller; Dominique Smeets; JC de Greef; S M van der Maarel; Walther Vogel; Klaus-Michael Debatin; Wilhelm Friedrich
ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.
American journal of medical genetics. Part A 2007;143A(17):2052-7.
2007: Paula M J Moonen; Gerard F M Merkx; Pim Peelen; Herbert F M Karthaus; Dominique Smeets; J Alfred Witjes
UroVysion compared with cytology and quantitative cytology in the surveillance of non-muscle-invasive bladder cancer.
European urology 2007;51(5):1275-80; discussion 1280.
2007: Jayne Hehir-Kwa; Michael Egmont-Petersen; Irene M Janssen; Dominique Smeets; Ad Geurts van Kessel; Joris Veltman
Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.
DNA research : an international journal for rapid publication of reports on genes and genomes 2007;14(1):1-11.
2007: Birgitta Winnepenninckx; Kim Debacker; Jacqueline Ramsay; Dominique Smeets; Arie Smits; David R FitzPatrick; R Frank Kooy
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.
American journal of human genetics 2007;80(2):221-31.
2006: Ilse Feenstra; David A Koolen; J Van der Pas; Ben C J Hamel; Hanneke Mieloo; Dominique Smeets; Conny van Ravenswaaij-Arts
Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.
European journal of medical genetics 2006;49(5):384-95.
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.
2005: Bert B A de Vries; Rolph Pfundt; Martijn A R Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris Veltman
Diagnostic genome profiling in mental retardation.
American journal of human genetics 2005;77(4):606-16.
2005: Griet Van Buggenhout; Conny van Ravenswaaij-Arts; N Mc Maas; Reinhilde Thoelen; Annick Vogels; Dominique Smeets; Ivo Salden; Gert Matthijs; Jean-Pierre Fryns; Joris R Vermeesch
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
European journal of medical genetics 2005;48(3):276-89.
2005: David Gisselsson; Chunbo Shao; Cathy M Tuck-Muller; Suzana Sogorovic; Eva Pålsson; Dominique Smeets; Melanie Ehrlich
Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells.
Chromosoma 2005;114(2):118-26.
2004: David A Koolen; Willy M Nillesen; Martina H A Versteeg; Gerard F M Merkx; Nine V A M Knoers; M Kets; Sascha Vermeer; Conny van Ravenswaaij-Arts; Carolien G F de Kovel; Han G Brunner; Dominique Smeets; Bert B A de Vries; Erik A Sistermans
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
Journal of medical genetics 2004;41(12):892-9.
2004: Dominique Smeets
Historical prospective of human cytogenetics: from microscope to microarray.
Clinical biochemistry 2004;37(6):439-46.
2004: David A Koolen; Lisenka E L M Vissers; Willy M Nillesen; Dominique Smeets; Conny van Ravenswaaij-Arts; Erik A Sistermans; Joris Veltman; Bert B A de Vries; B D A de Vries
A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.
Clinical genetics 2004;65(5):429-32.
2003: Lisenka E L M Vissers; Bert B A de Vries; Kazutoyo Osoegawa; Irene M Janssen; Ton Feuth; Chik On Choy; huub straatman; Walter A Van Der Vliet; Erik H L P G Huys; Anke van Rijk; Dominique Smeets; Conny van Ravenswaaij-Arts; Nine V A M Knoers; Ineke van der Burgt; Pieter J de Jong; Han G Brunner; Ad Geurts van Kessel; Eric F P M Schoenmakers; Joris Veltman
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
American journal of human genetics 2003;73(6):1261-70.
2003: Inge Nuijten; Ronald J C Admiraal; Griet Van Buggenhout; Cor W R J Cremers; Jean-Pierre Frijns; Dominique Smeets; Conny van Ravenswaaij-Arts
Congenital aural atresia in 18q deletion or de Grouchy syndrome.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2003;24(6):900-6.
2003: E Mariken Ruiter; Ernie M H F Bongers; Dominique Smeets; Anne Marie Kuijpers-Jagtman; Ben C J Hamel
No justification of routine screening for 22q11 deletions in patients with overt cleft palate.
Clinical genetics 2003;64(3):216-9.
2003: Joris Veltman; Yvonne Jonkers; Inge Nuijten; Irene M Janssen; Walter A Van Der Vliet; Erik H L P G Huys; Joris R Vermeesch; Griet Van Buggenhout; Jean-Pierre Fryns; Ronald J C Admiraal; Paulien Terhal; Didier Lacombe; Ad Geurts van Kessel; Dominique Smeets; Eric F P M Schoenmakers; Conny van Ravenswaaij-Arts
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.
American journal of human genetics 2003;72(6):1578-84.
2003: Joke de Pater; Dominique Smeets; J M J C Scheres
Unique mosaicism of structural chromosomal rearrangement: is chromosome 18 preferentially involved?
American journal of medical genetics. Part A 2003;119A(1):26-31.
2002: B H W Faas; Bert B A de Vries; J Van Es-Van Gaal; Gerard F M Merkx; Jos M Th Draaisma; Dominique Smeets
A new case of dup(3q) syndrome due to a pure duplication of 3qter.
Clinical genetics 2002;62(4):315-20.
2002: Clara D M van Karnebeek; Cindy Koevoets; Sigrid Sluijter; EK Bijlsma; Dominique Smeets; Egbert J Redeker; Raoul Hennekam; Jan M N Hoovers
Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.
Journal of medical genetics 2002;39(8):546-53.
2002: Joris Veltman; Eric F P M Schoenmakers; Bert H J Eussen; Irene M Janssen; Gerard F M Merkx; Brigitte van Cleef; Conny van Ravenswaaij-Arts; Han G Brunner; Dominique Smeets; Ad Geurts van Kessel
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.
American journal of human genetics 2002;70(5):1269-76.
2002: Daniëlle Bodmer; Marc J Eleveld; M J L Ligtenberg; Marian A J Weterman; Adrian van der Meijden; Marianne Koolen; Christien Hulsbergen-van der Kaa; Arie P T Smits; Dominique Smeets; Ad Geurts van Kessel
Cytogenetic and molecular analysis of early stage renal cell carcinomas in a family with a translocation (2;3)(q35;q21).
Cancer genetics and cytogenetics 2002;134(1):6-12.
2001: Melanie Ehrlich; K L Buchanan; F Tsien; Guanchao Jiang; B Sun; William C Uicker; Corry M R Weemaes; Dominique Smeets; Karl Sperling; B H Belohradsky; Niels Tommerup; David E Misek; Jean-Marie Rouillard; Rork Kuick; Samir M Hanash
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.
Human molecular genetics 2001;10(25):2917-31.
2001: J A P Hiel; Corry M R Weemaes; B G M van Engelen; Dominique Smeets; M J L Ligtenberg; Ineke van der Burgt; Lambert P van den Heuvel; Karen M Cerosaletti; Fons J M Gabreëls; Patrick Concannon
Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.
Journal of medical genetics 2001;38(6):E19.
2001: Marc J Eleveld; Daniëlle Bodmer; Gerard F M Merkx; A Siepman; Sandra H E Sprenger; Marian A J Weterman; M J L Ligtenberg; J Kamp; W Stapper; Judith W M Jeuken; Dominique Smeets; Arie P T Smits; Ad Geurts van Kessel
Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15).
Genes, chromosomes & cancer 2001;31(1):23-32.
2001: Alberto Plaja; T Vendrell; Dominique Smeets; Enric Sarret; T Gili; Vicens Català; Carmen Mediano; J M Scheres
Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.
American journal of medical genetics 2001;98(3):216-23.
2000: Cisca Wijmenga; R Scott Hansen; Giorgio Gimelli; E J Björck; E G Davies; D Valentine; B H Belohradsky; J J van Dongen; Dominique Smeets; L P van den Heuvel; J A Luyten; Eric Strengman; Corry M R Weemaes; Peter L Pearson
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
Human mutation 2000;16(6):509-17.
2000: A Narayan; Cathy M Tuck-Muller; K Weissbecker; Dominique Smeets; Melanie Ehrlich
Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome.
Mutation research 2000;456(1-2):1-15.
2000: Tjitske Kleefstra; G van de Zande; Gerard F M Merkx; Hanneke Mieloo; J M Hoovers; Dominique Smeets
Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.
European journal of human genetics : EJHG 2000;8(8):637-40.
2000: Cathy M Tuck-Muller; A Narayan; F Tsien; Dominique Smeets; J Sawyer; Emerich Fiala; Ock Soon Sohn; Melanie Ehrlich
DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients.
Cytogenetics and cell genetics 2000;89(1-2):121-8.
1999: Helger G Yntema; Bellinda van den Helm; Nine V A M Knoers; Arie P T Smits; Tanja van Roosmalen; Dominique Smeets; Edwin C M Mariman; Ineke van der Burgt; Hans van Bokhoven; Hans-Hilger Ropers; Hannie Kremer; Ben C J Hamel
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.
American journal of medical genetics 1999;85(3):305-8.
1999: Ben C J Hamel; Arie P T Smits; Bellinda van den Helm; Dominique Smeets; Nine V A M Knoers; Tanja van Roosmalen; Geert Thoonen; C F Assman-Hulsmans; Hans-Hilger Ropers; Edwin C M Mariman; Hannie Kremer
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
American journal of medical genetics 1999;85(3):290-304.
1999: Ad Geurts van Kessel; H Wijnhoven; Daniëlle Bodmer; Marc J Eleveld; L Kiemeney; P Mulders; Marian A J Weterman; M J L Ligtenberg; Dominique Smeets; Arie P T Smits
Renal cell cancer: chromosome 3 translocations as risk factors.
Journal of the National Cancer Institute 1999;91(13):1159-60.
1999: Conny van Ravenswaaij-Arts; E van der Looij; Dominique Smeets
[Trisomy 9p: a clinical picture and the importance of examining the family].
Nederlands tijdschrift voor geneeskunde 1999;143(13):682-6.
1998: Helger G Yntema; Ben C J Hamel; Arie P T Smits; Tanja van Roosmalen; Bellinda van den Helm; Hannie Kremer; Hans-Hilger Ropers; Dominique Smeets; Hans van Bokhoven
Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.
Journal of medical genetics 1998;35(10):801-5.
1998: Cisca Wijmenga; L P van den Heuvel; Eric Strengman; J A Luyten; Ineke van der Burgt; R de Groot; Dominique Smeets; Jos M Th Draaisma; J J van Dongen; R A De Abreu; Peter L Pearson; Lodewijk A Sandkuijl; Corry M R Weemaes
Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.
American journal of human genetics 1998;63(3):803-9.
1998: Karen M Cerosaletti; Ethan M Lange; Heather M Stringham; Corry M R Weemaes; Dominique Smeets; B Sölder; Bernd H Belohradsky; A M Taylor; P Karnes; A Elliott; K Komatsu; Richard A Gatti; Michael Boehnke; Patrick Concannon
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.
American journal of human genetics 1998;63(1):125-34.
1998: Shinya Matsuura; Hiroshi Tauchi; Asako Nakamura; N Kondo; S Sakamoto; S Endo; Dominique Smeets; B Solder; B H Belohradsky; V M Der Kaloustian; Mitsuo Oshimura; Mariko Isomura; Yusuke Nakamura; Kenshi Komatsu
Positional cloning of the gene for Nijmegen breakage syndrome.
Nature genetics 1998;19(2):179-81.
1998: Daniëlle Bodmer; Marc J Eleveld; M J L Ligtenberg; Marian A J Weterman; B A Janssen; Dominique Smeets; P E de Wit; Anke Van den Berg; Eva van den Berg; Marianne Koolen; Ad Geurts van Kessel
An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.
American journal of human genetics 1998;62(6):1475-83.
1998: Joep H A M Tuerlings; H F de France; A J H Hamers; R Hordijk; J O Van Hemel; K B M Hansson; Jan M N Hoovers; Kamlesh Madan; M van der Blij-Philipsen; Klasien B J Gerssen-Schoorl; Jan A M Kremer; Dominique Smeets
Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.
European journal of human genetics : EJHG 1998;6(3):194-200.
1998: M J van Belzen; J A P Hiel; Corry M R Weemaes; Fons J M Gabreëls; B G M van Engelen; Dominique Smeets; Lambert P van den Heuvel
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
Human genetics 1998;102(2):187-91.
1998: Marianne Koolen; A P van der Meyden; Daniëlle Bodmer; Marc J Eleveld; E van der Looij; H Brunner; Arie P T Smits; Eva van den Berg; Dominique Smeets; Ad Geurts van Kessel
A familial case of renal cell carcinoma and a t(2;3) chromosome translocation.
Kidney international 1998;53(2):273-5.
1998: K Matsuura; T Balmukhanov; Hiroshi Tauchi; Corry M R Weemaes; Dominique Smeets; Krystyna H Chrzanowska; S Endou; Shinya Matsuura; Kenshi Komatsu
Radiation induction of p53 in cells from Nijmegen breakage syndrome is defective but not similar to ataxia-telangiectasia.
Biochemical and biophysical research communications 1998;242(3):602-7.
1998: Christian Ensinger; Peter Obrist; G Mikuz; Gerard F M Merkx; Dominique Smeets; R Bänziger; Felix Bachmann; M Burger
Assignment1 of the p150 subunit of the eukaryotic initiation factor 3A gene (EIF3A) to human chromosome band 10q26 by in situ hybridisation.
Cytogenetics and cell genetics 1998;83(1-2):74-5.
1998: C T R M Schrander-Stumpel; W P Rijnvos; M van der Blij-Philipsen; A Drogtrop; Dominique Smeets; J P Fryns
Preaxial polydactyly in the 4p- syndrome.
Genetic counseling (Geneva, Switzerland) 1998;9(1):63-5.
1997: Wim Jongmans; Michèle Vuillaume; Krystyna H Chrzanowska; Dominique Smeets; Karl Sperling; Janet Hall
Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.
Molecular and cellular biology 1997;17(9):5016-22.
1997: Shinya Matsuura; Corry M R Weemaes; Dominique Smeets; H Takami; N Kondo; S Sakamoto; N Yano; Asako Nakamura; Hiroshi Tauchi; S Endo; Mitsuo Oshimura; Kenshi Komatsu
Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24.
American journal of human genetics 1997;60(6):1487-94.
1997: Conny van Ravenswaaij-Arts; Joep H A M Tuerlings; A F Van Heyst; J G Nijhuis; J Niehof; Dominique Smeets
Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY, +3/48,XXY, +18 karyotype.
Prenatal diagnosis 1997;17(4):375-9.
1997: Dominique Smeets; Conny van Ravenswaaij-Arts; J de Pater; Klasien B J Gerssen-Schoorl; J Van Hemel; G Janssen; Arie P T Smits
At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.
Journal of medical genetics 1997;34(1):18-23.
1996: Kenshi Komatsu; Shinya Matsuura; Hiroshi Tauchi; S Endo; S Kodama; Dominique Smeets; Corry M R Weemaes; Mitsuo Oshimura
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.
American journal of human genetics 1996;58(4):885-8.
1996: Ineke van der Burgt; Krystyna H Chrzanowska; Dominique Smeets; Corry M R Weemaes
Nijmegen breakage syndrome.
Journal of medical genetics 1996;33(2):153-6.
1995: Anne Forus; D O Weghuis; Dominique Smeets; Oystein Fodstad; Ola Myklebost; A G van Kessel
Comparative genomic hybridization analysis of human sarcomas: I. Occurrence of genomic imbalances and identification of a novel major amplicon at 1q21-q22 in soft tissue sarcomas.
Genes, chromosomes & cancer 1995;14(1):8-14.
1995: Anne Forus; D O Weghuis; Dominique Smeets; Oystein Fodstad; Ola Myklebost; Ad Geurts van Kessel
Comparative genomic hybridization analysis of human sarcomas: II. Identification of novel amplicons at 6p and 17p in osteosarcomas.
Genes, chromosomes & cancer 1995;14(1):15-21.
1994: Corry M R Weemaes; Dominique Smeets; C J van der Burgt
Nijmegen Breakage syndrome: a progress report.
International journal of radiation biology 1994;66(6 Suppl):S185-8.
1994: Ben C J Hamel; Arie P T Smits; Esther de Graaff; Dominique Smeets; F Schoute; B H Eussen; S J Knight; K E Davies; C F Assman-Hulsmans; Ben A Oostra
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.
American journal of human genetics 1994;55(5):923-31.
1994: Griet Van Buggenhout; Ben C J Hamel; J C Trommelen; H Mieloo; Dominique Smeets
Down-Turner syndrome: case report and review.
Journal of medical genetics 1994;31(10):807-10.
1994: Dominique Smeets; U Moog; Corry M R Weemaes; G Vaes-Peeters; Gerard F M Merkx; J P Niehof; G Hamers
ICF syndrome: a new case and review of the literature.
Human genetics 1994;94(3):240-6.
1994: Arie P T Smits; Dominique Smeets; Ben Hamel; J C F M Dreesen; A de Haan; BA van Oost
Prediction of mental status in carriers of the fragile X mutation using CGG repeat length.
American journal of medical genetics 1994;51(4):497-500.
1994: C T R M Schrander-Stumpel; L C P Govaerts; J J M Engelen; M van der Blij-Philipsen; M Borghgraef; W J Loots; J J Peters; W P Rijnvos; Dominique Smeets; J P Fryns
Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.
American journal of medical genetics 1994;50(4):377-80.
1993: G Jansen; M Bartolomei; V Kalscheuer; Gerard F M Merkx; N Wormskamp; Edwin C M Mariman; Dominique Smeets; Hans-Hilger Ropers; Bé Wieringa
No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues.
Human molecular genetics 1993;2(8):1221-7.
1993: Arie P T Smits; J C F M Dreesen; J G Post; Dominique Smeets; C E M de Die-Smulders; T Spaans-van der Bijl; L C P Govaerts; Stephen Warren; Ben A Oostra; BA van Oost
The fragile X syndrome: no evidence for any recent mutations.
Journal of medical genetics 1993;30(2):94-6.
1993: Corry M R Weemaes; Dominique Smeets; Martin Horstink; Asgeir Haraldsson; Jan Bakkeren
Variants of Nijmegen breakage syndrome and ataxia telangiectasia.
Immunodeficiency 1993;4(1-4):109-11.
1992: E J Meijers-Heijboer; Lodewijk A Sandkuijl; Han G Brunner; H J M Smeets; A J Hoogeboom; Wout Deelen; JO van Hemel; M R Nelen; Dominique Smeets; Martinus F Niermeijer
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.
Journal of medical genetics 1992;29(12):853-7.
1992: C J Van Der Burgt; Gerard F M Merkx; A H Janssen; J C Mulder; Ron Suijkerbuijk; Dominique Smeets
Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent.
Journal of medical genetics 1992;29(10):739-41.
1992: Arie P T Smits; BA van Oost; A F de Haan; Ben C J Hamel; J C F M Dreesen; Dominique Smeets
Penetrance of fra(X) gene: influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male.
American journal of medical genetics 1992;43(1-2):365-72.
1992: A F de Haan; Arie P T Smits; Dominique Smeets; BA van Oost
Penetrance estimate of the fra(X) gene using Pointer versus direct estimate.
American journal of medical genetics 1992;43(1-2):361-4.
1992: Arie P T Smits; Dominique Smeets; Ben Hamel; J C F M Dreesen; BA van Oost
High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate.
American journal of medical genetics 1992;43(1-2):345-52.
1992: Arie P T Smits; Dominique Smeets; J C F M Dreesen; Ben Hamel; A de Haan; BA van Oost
Parental origin of the fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers.
American journal of medical genetics 1992;43(1-2):261-7.
1992: P E de Wit; Anton H N Hopman; Goos N P van Muijen; Dominique Smeets; J L Beck; O Moesker; Dirk J Ruiter
In situ detection of supernumerary aberrations of chromosome-specific repetitive DNA targets in interphase nuclei in human melanoma cell lines and tissue sections.
The Journal of investigative dermatology 1992;98(4):450-8.
1992: Dominique Smeets; Ben C J Hamel; M R Nelen; H J M Smeets; J H Bollen; Arie P T Smits; Hans-Hilger Ropers; BA van Oost
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.
The New England journal of medicine 1992;326(12):807-11.
1992: Ben A Semmekrot; Asgeir Haraldsson; Corry M R Weemaes; Dominique Smeets; WB Geven; H G Brunner
Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis.
American journal of medical genetics 1992;42(5):736-40.
1992: Dominique Smeets; Gerard F M Merkx; A H Hopman
Chromosome 15p marker D15Z1 frequently maps to the short arm of other D-group chromosomes.
Human genetics 1992;88(3):365.
1991: M Cornelissen; Dominique Smeets; Gerard F M Merkx; Ronney A De Abreu; L Kollee; L Monnens
Analysis of chromosome aberrations and sister chromatid exchanges in peripheral blood lymphocytes of newborns after vitamin K prophylaxis at birth.
Pediatric research 1991;30(6):550-3.
1991: Dominique Smeets; Gerard F M Merkx; A H Hopman
Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes.
Human genetics 1991;87(1):45-8.
1991: Goos N P van Muijen; K F Jansen; I M H A Cornelissen; Dominique Smeets; J L Beck; Dirk J Ruiter
Establishment and characterization of a human melanoma cell line (MV3) which is highly metastatic in nude mice.
International journal of cancer. Journal international du cancer 1991;48(1):85-91.
1991: P J Poddighe; O Moesker; Dominique Smeets; B H Awwad; Frans C S Ramaekers; Anton H N Hopman
Interphase cytogenetics of hematological cancer: comparison of classical karyotyping and in situ hybridization using a panel of eleven chromosome specific DNA probes.
Cancer research 1991;51(7):1959-67.
1991: BA van Oost; Arie P T Smits; J C F M Dreesen; Dominique Smeets; L Perdon; C A van Bennekom; Niklas Dahl; E Bakker; Ben A Oostra
Multipoint linkage analysis of DXS369 and DXS304 in fragile X families.
American journal of medical genetics 1991;38(2-3):328-31.
1991: Corry M R Weemaes; Jan Bakkeren; Asgeir Haraldsson; Dominique Smeets
Immunological studies in Bloom's syndrome. A follow-up report.
Annales de génétique 1991;34(3-4):201-5.
1990: Dominique Smeets; Gerard F M Merkx
Neither age nor sex influence the expression of folate sensitive common fragile sites on human chromosomes.
Human genetics 1990;86(1):76-8.
1990: Dominique Smeets; A Arets
Genetic determination of fragile-site expression.
American journal of human genetics 1990;47(2):196-201.
1990: Dominique Smeets; F A van de Klundert
Common fragile sites in man and three closely related primate species.
Cytogenetics and cell genetics 1990;53(1):8-14.
1990: Gerard F M Merkx; A H Hopman; A C Akkermans-Scholten; Dominique Smeets
Evidence for specificity of the DA/DAPI technique.
Cytogenetics and cell genetics 1990;54(1-2):62-4.
1989: R F Kruitwagen; Lambert G Poels; WN Willemsen; Huib Croes; Dominique Smeets; J L Beck; A G J M Hanselaar; Frans C S Ramaekers; R Rolland; PH Jap
ETN-1: a new human endometrial carcinoma cell line producing ascites and distant metastases in nude mice.
International journal of cancer. Journal international du cancer 1989;43(6):1098-103.
1989: C C van Niekerk; PH Jap; Chris M G Thomas; Dominique Smeets; Frans C S Ramaekers; Lambert G Poels
Marker profile of mesothelial cells versus ovarian carcinoma cells.
International journal of cancer. Journal international du cancer 1989;43(6):1065-71.
1989: Dominique Smeets; A Verhagen; T Hustinx
Familial and individual variation in chromosome fragility.
Mutation research 1989;212(2):223-9.
1988: C C van Niekerk; Lambert G Poels; PH Jap; Dominique Smeets; Chris M G Thomas; Frans C S Ramaekers; G Peter Vooijs
Characterization of a human ovarian carcinoma cell line, OTN 14, derived from a mucinous cystadenocarcinoma.
International journal of cancer. Journal international du cancer 1988;42(1):104-11.
1986: Dominique Smeets; J Scheres; T Hustinx
The most common fragile site in man is 3p14.
Human genetics 1986;74(3):330.