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Gert-Jan van Ommen
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84
den Dunnen, Johan
41
Bakker, Egbert
28
Breuning, Martijn
22
van Deutekom, Judith
18
Aartsma-Rus, Annemieke
16
Roos, Raymund
15
Cornelisse, Cees
14
Frants, Rune
13
Devilee, Peter
13
Bergen, Arthur
13
Beverstock, Geoffrey
12
Dauwerse, Hans
11
Janson, Anneke
11
Saris, Jasper
10
Tanke, Hans
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All Publications
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2009: Aartsma-Rus Annemieke; van Ommen Gert-Jan B
Less is more: therapeutic exon skipping for Duchenne muscular dystrophy.
Lancet neurology 2009;8(10):873-5.
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2009: Heemskerk Hans; de Winter Christa L; van Ommen Gert-Jan B; van Deutekom Judith C T; Aartsma-Rus Annemieke
Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy.
Annals of the New York Academy of Sciences 2009;1175():71-9.
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2009: Goyenvalle Aurélie; Babbs Arran; van Ommen Gert-Jan B; Garcia Luis; Davies Kay E
Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy.
Molecular therapy : the journal of the American Society of Gene Therapy 2009;17(7):1234-40.
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2009: Heemskerk Hans A; de Winter Christa L; de Kimpe Sjef J; van Kuik-Romeijn Petra; Heuvelmans Niki; Platenburg Gerard J; van Ommen Gert-Jan B; van Deutekom Judith C T; Aartsma-Rus Annemieke
In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping.
The journal of gene medicine 2009;11(3):257-66.
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2009: Aartsma-Rus Annemieke; van Vliet Laura; Hirschi Marscha; Janson Anneke A M; Heemskerk Hans; de Winter Christa L; de Kimpe Sjef; van Deutekom Judith C T; 't Hoen Peter A C; van Ommen Gert-Jan B
Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms.
Molecular therapy : the journal of the American Society of Gene Therapy 2009;17(3):548-53.
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2009: Menezes Renée X; Boetzer Marten; Sieswerda Melle; van Ommen Gert-Jan B; Boer Judith M
Integrated analysis of DNA copy number and gene expression microarray data using gene sets.
BMC bioinformatics 2009;10():203.
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2009: Pepers Barry A; Schut Menno H; Vossen Rolf Ham; van Ommen Gert-Jan B; den Dunnen Johan T; van Roon-Mom Willeke Mc
Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection.
BMC biotechnology 2009;9():50.
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2008: 't Hoen Peter A C; Ariyurek Yavuz; Thygesen Helene H; Vreugdenhil Erno; Vossen Rolf H A M; de Menezes Renée X; Boer Judith M; van Ommen Gert-Jan B; den Dunnen Johan T
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms.
Nucleic acids research 2008;36(21):e141.
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2008: Knight Melanie A; Hernandez Dena; Diede Scott J; Dauwerse Hans G; Rafferty Ian; van de Leemput Joyce; Forrest Susan M; Gardner R J McKinlay; Storey Elsdon; van Ommen Gert-Jan B; Tapscott Stephen J; Fischbeck Kenneth H; Singleton Andrew B
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Human molecular genetics 2008;17(24):3847-53.
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2008: Alagaratnam Sharmini; Mertens Bart J A; Dalebout Johannes C; Deelder André M; van Ommen Gert-Jan B; den Dunnen Johan T; 't Hoen Peter A C
Serum protein profiling in mice: identification of Factor XIIIa as a potential biomarker for muscular dystrophy.
Proteomics 2008;8(8):1552-63.
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2008: Bruder Carl E G; Piotrowski Arkadiusz; Gijsbers Antoinet A C J; Andersson Robin; Erickson Stephen; de Ståhl Teresita Diaz; Menzel Uwe; Sandgren Johanna; von Tell Desiree; Poplawski Andrzej; Crowley Michael; Crasto Chiquito; Partridge E Christopher; Tiwari Hemant; Allison David B; Komorowski Jan; van Ommen Gert-Jan B; Boomsma Dorret I; Pedersen Nancy L; den Dunnen Johan T; Wirdefeldt Karin; Dumanski Jan P
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.
American journal of human genetics 2008;82(3):763-71.
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2008: 't Hoen Peter A C; de Meijer Emile J; Boer Judith M; Vossen Rolf H A M; Turk Rolf; Maatman Ronald G H J; Davies Kay E; van Ommen Gert-Jan B; van Deutekom Judith C T; den Dunnen Johan T
Generation and characterization of transgenic mice with the full-length human DMD gene.
The Journal of biological chemistry 2008;283(9):5899-907.
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2008: van Ommen Gert-Jan B
Popper revisited: GWAS here, last year.
European journal of human genetics : EJHG 2008;16(1):1-2.
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2008: van Vliet Laura; de Winter Christa L; van Deutekom Judith C T; van Ommen Gert-Jan B; Aartsma-Rus Annemieke
Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy.
BMC medical genetics 2008;9():105.
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2008: Hestand Matthew S; van Galen Michiel; Villerius Michel P; van Ommen Gert-Jan B; den Dunnen Johan T; 't Hoen Peter A C
CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes.
BMC bioinformatics 2008;9():495.
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2008: Jelier Rob; 't Hoen Peter A C; Sterrenburg Ellen; den Dunnen Johan T; van Ommen Gert-Jan B; Kors Jan A; Mons Barend
Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease.
BMC bioinformatics 2008;9():291.
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2008: Pedotti Paola; 't Hoen Peter A C; Vreugdenhil Erno; Schenk Geert J; Vossen Rolf Ham; Ariyurek Yavuz; de Hollander Mattias; Kuiper Rowan; van Ommen Gertjan J B; den Dunnen Johan T; Boer Judith M; de Menezes Renée X
Can subtle changes in gene expression be consistently detected with different microarray platforms?
BMC genomics 2008;9():124.
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2007: van Deutekom Judith C; Janson Anneke A; Ginjaar Ieke B; Frankhuizen Wendy S; Aartsma-Rus Annemieke; Bremmer-Bout Mattie; den Dunnen Johan T; Koop Klaas; van der Kooi Anneke J; Goemans Nathalie M; de Kimpe Sjef J; Ekhart Peter F; Venneker Edna H; Platenburg Gerard J; Verschuuren Jan J; van Ommen Gert-Jan B
Local dystrophin restoration with antisense oligonucleotide PRO051.
The New England journal of medicine 2007;357(26):2677-86.
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2007: Aartsma-Rus Annemieke; van Ommen Gert-Jan B
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications.
RNA (New York, N.Y.) 2007;13(10):1609-24.
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2007: van der Kooi A J; Frankhuizen W S; Barth P G; Howeler C J; Padberg G W; Spaans F; Wintzen A R; Wokke J H J; van Ommen G-J B; de Visser M; Bakker E; Ginjaar H B
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
Neurology 2007;68(24):2125-8.
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2007: Kriek Marjolein; Knijnenburg Jeroen; White Stefan J; Rosenberg Carla; den Dunnen Johan T; van Ommen Gert-Jan B; Tanke Hans J; Breuning Martijn H; Szuhai Karoly
Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.
American journal of medical genetics. Part A 2007;143(6):610-4.
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2007: Witjes-Ané Marie-Noëlle W; Mertens Bart; van Vugt Jeroen P P; Bachoud-Lévi Anne-Catherine; van Ommen Gert-Jan B; Roos Raymund A C
Longitudinal evaluation of "presymptomatic" carriers of Huntington's disease.
The Journal of neuropsychiatry and clinical neurosciences 2007;19(3):310-7.
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2007: Aartsma-Rus Annemieke; Janson Anneke A M; van Ommen Gert-Jan B; van Deutekom Judith C T
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy.
BMC medical genetics 2007;8():43.
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2006: Aartsma-Rus A; Janson A A M; Heemskerk J A; De Winter C L; Van Ommen G-J B; Van Deutekom J C T
Therapeutic modulation of DMD splicing by blocking exonic splicing enhancer sites with antisense oligonucleotides.
Annals of the New York Academy of Sciences 2006;1082():74-6.
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2006: Aartsma-Rus Annemieke; Kaman Wendy E; Weij Rudie; den Dunnen Johan T; van Ommen Gert-Jan B; van Deutekom Judith C T
Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons.
Molecular therapy : the journal of the American Society of Gene Therapy 2006;14(3):401-7.
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2006: Aartsma-Rus Annemieke; Van Deutekom Judith C T; Fokkema Ivo F; Van Ommen Gert-Jan B; Den Dunnen Johan T
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.
Muscle & nerve 2006;34(2):135-44.
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2006: Sterrenburg Ellen; van der Wees Caroline G C; White Stefan J; Turk Rolf; de Menezes Renée X; van Ommen Gert-Jan B; den Dunnen Johan T; 't Hoen Peter A C
Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4.
Neurobiology of disease 2006;23(1):228-36.
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2006: Cong Shu-Yan; Pepers Barry A; Roos Raymund A C; van Ommen Gert-Jan B; Dorsman Josephine C
Small N-terminal mutant huntingtin fragments, but not wild type, are mainly present in monomeric form: Implications for pathogenesis.
Experimental neurology 2006;199(2):257-64.
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2006: 't Hoen Peter A C; van der Wees Caroline G C; Aartsma-Rus Annemieke; Turk Rolf; Goyenvalle Aurélie; Danos Olivier; Garcia Luis; van Ommen Gert-Jan B; den Dunnen Johan T; van Deutekom Judith C T
Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy.
Pharmacogenomics 2006;7(3):281-97.
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2006: Kriek Marjolein; White Stefan J; Szuhai Karoly; Knijnenburg Jeroen; van Ommen Gert-Jan B; den Dunnen Johan T; Breuning Martijn H
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.
European journal of human genetics : EJHG 2006;14(2):180-9.
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2006: Verheesen Peter; de Kluijver Anna; van Koningsbruggen Silvana; de Brij Marjolein; de Haard Hans J; van Ommen Gert-Jan B; van der Maarel Silvère M; Verrips C Theo
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody.
Human molecular genetics 2006;15(1):105-11.
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2006: Turk R; Sterrenburg E; van der Wees C G C; de Meijer E J; de Menezes R X; Groh S; Campbell K P; Noguchi S; van Ommen G J B; den Dunnen J T; 't Hoen P A C
Common pathological mechanisms in mouse models for muscular dystrophies.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006;20(1):127-9.
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2005: Cong Shu-Yan; Pepers Barry A; Evert Bernd O; Rubinsztein David C; Roos Raymund A C; van Ommen Gert-Jan B; Dorsman Josephine C
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
Molecular and cellular neurosciences 2005;30(4):560-71.
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2005: Aartsma-Rus Annemieke; De Winter Christa L; Janson Anneke A M; Kaman Wendy E; Van Ommen Gert-Jan B; Den Dunnen Johan T; Van Deutekom Judith C T
Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites.
Oligonucleotides 2005;15(4):284-97.
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2005: Cong Shu-Yan; Pepers Barry A; Roos Raymund A C; Van Ommen Gert-Jan B; Dorsman Josephine C
Epitope mapping of monoclonal antibody 4C8 recognizing the protein huntingtin.
Hybridoma (2005) 2005;24(5):231-5.
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2005: Cong Shu-Yan; Pepers Barry A; Evert Bernd O; Rubinsztein David C; Roos Raymund A C; van Ommen Gert-Jan B; Dorsman Josephine C
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
Molecular and cellular neurosciences 2005;30(1):12-23.
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2005: van Ommen Gert-Jan B
Frequency of new copy number variation in humans.
Nature genetics 2005;37(4):333-4.
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2005: Roelfsema Jeroen H; White Stefan J; Ariyürek Yavuz; Bartholdi Deborah; Niedrist Dunja; Papadia Francesco; Bacino Carlos A; den Dunnen Johan T; van Ommen Gert-Jan B; Breuning Martijn H; Hennekam Raoul C; Peters Dorien J M
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
American journal of human genetics 2005;76(4):572-80.
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2005: van Ommen Gert-Jan B
Genomics: the human genome, revisited.
European journal of human genetics : EJHG 2005;13(3):265-7.
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2005: de Voer G; van der Bent P; Rodrigues A J G; van Ommen G-J B; Peters D J M; Taschner P E M
Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.
Journal of inherited metabolic disease 2005;28(6):1065-80.
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2005: Turk R; Sterrenburg E; de Meijer E J; van Ommen G-J B; den Dunnen J T; 't Hoen P A C
Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling.
BMC genomics 2005;6():98.
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2004: Sterrenburg Ellen; Turk Rolf; 't Hoen Peter A C; van Deutekom Judith C T; Boer Judith M; van Ommen Gert-Jan B; den Dunnen Johan T
Large-scale gene expression analysis of human skeletal myoblast differentiation.
Neuromuscular disorders : NMD 2004;14(8-9):507-18.
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2004: Aartsma-Rus A; Kaman W E; Bremmer-Bout M; Janson A A M; den Dunnen J T; van Ommen G-J B; van Deutekom J C T
Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells.
Gene therapy 2004;11(18):1391-8.
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2004: Turk Rolf; 't Hoen Peter A C; Sterrenburg Ellen; de Menezes Renée X; de Meijer Emile J; Boer Judith M; van Ommen Gert-Jan B; den Dunnen Johan T
Gene expression variation between mouse inbred strains.
BMC genomics 2004;5(1):57.
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2004: Bremmer-Bout Mattie; Aartsma-Rus Annemieke; de Meijer Emile J; Kaman Wendy E; Janson Anneke A M; Vossen Rolf H A M; van Ommen Gert-Jan B; den Dunnen Johan T; van Deutekom Judith C T
Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides.
Molecular therapy : the journal of the American Society of Gene Therapy 2004;10(2):232-40.
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2004: Beekman Marian; Posthuma Daniëlle; Heijmans Bastiaan T; Lakenberg Nico; Suchiman H Eka D; Snieder Harold; de Knijff Peter; Frants Rune R; van Ommen Gert Jan B; Kluft Cornelis; Vogler George P; Slagboom P Eline; Boomsma Dorret I
Combined association and linkage analysis applied to the APOE locus.
Genetic epidemiology 2004;26(4):328-37.
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2004: Kriek M; White S J; Bouma M C; Dauwerse H G; Hansson K B M; Nijhuis J V; Bakker B; van Ommen G-J B; den Dunnen J T; Breuning M H
Genomic imbalances in mental retardation.
Journal of medical genetics 2004;41(4):249-55.
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2004: Dekkers Linda C; van der Plas Mariska C; van Loenen Pieter B; den Dunnen Johan T; van Ommen Gert-Jan B; Fradkin Lee G; Noordermeer Jasprina N
Embryonic expression patterns of the Drosophila dystrophin-associated glycoprotein complex orthologs.
Gene expression patterns : GEP 2004;4(2):153-9.
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2004: Hofstra Robert M W; Mulder Inge M; Vossen Rolf; de Koning-Gans Pia A M; Kraak Marian; Ginjaar Ieke B; van der Hout Annemarie H; Bakker Egbert; Buys Charles H C M; van Ommen Gert-Jan B; van Essen Anthonie J; den Dunnen Johan T
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Human mutation 2004;23(1):57-66.
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2004: Aartsma-Rus Annemieke; Janson Anneke A M; Kaman Wendy E; Bremmer-Bout Mattie; van Ommen Gert-Jan B; den Dunnen Johan T; van Deutekom Judith C T
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense.
American journal of human genetics 2004;74(1):83-92.
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2004: 't Hoen Peter A C; Turk Rolf; Boer Judith M; Sterrenburg Ellen; de Menezes Renée X; van Ommen Gert-Jan B; den Dunnen Johan T
Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designs.
Nucleic acids research 2004;32(4):e41.
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2003: van Overveld Petra G M; Lemmers Richard J F L; Sandkuijl Lodewijk A; Enthoven Leo; Winokur Sara T; Bakels Floor; Padberg George W; van Ommen Gert-Jan B; Frants Rune R; van der Maarel Silvère M
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
Nature genetics 2003;35(4):315-7.
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2003: Beekman Marian; Heijmans Bastiaan T; Martin Nicholas G; Whitfield John B; Pedersen Nancy L; DeFaire Ulf; Snieder Harold; Lakenberg Nico; Suchiman H Eka D; de Knijff Peter; Frants Rune R; van Ommen Gert Jan B; Kluft Cornelis; Vogler George P; Boomsma Dorret I; Slagboom P Eline
Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population.
European journal of human genetics : EJHG 2003;11(11):845-50.
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2003: White S J; Sterrenburg E; van Ommen G-J B; den Dunnen J T; Breuning M H
An alternative to FISH: detecting deletion and duplication carriers within 24 hours.
Journal of medical genetics 2003;40(10):e113.
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2003: van Deutekom Judith C T; van Ommen Gert-Jan B
Advances in Duchenne muscular dystrophy gene therapy.
Nature reviews. Genetics 2003;4(10):774-83.
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2003: Beekman Marian; Heijmans Bastiaan T; Martin Nicholas G; Whitfield John B; Pedersen Nancy L; DeFaire Ulf; Snieder Harold; Lakenberg Nico; de Knijff Peter; Frants Rune R; van Ommen Gert Jan B; Kluft Cornelis; Vogler George P; Slagboom P Eline; Boomsma Dorret I
Two-locus linkage analysis applied to putative quantitative trait loci for lipoprotein(a) levels.
Twin research : the official journal of the International Society for Twin Studies 2003;6(4):322-4.
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2003: Aartsma-Rus Annemieke; Janson Anneke A M; Kaman Wendy E; Bremmer-Bout Mattie; den Dunnen Johan T; Baas Frank; van Ommen Gert-Jan B; van Deutekom Judith C T
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.
Human molecular genetics 2003;12(8):907-14.
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2003: 't Hoen Peter A C; de Kort Floor; van Ommen G J B; den Dunnen Johan T
Fluorescent labelling of cRNA for microarray applications.
Nucleic acids research 2003;31(5):e20.
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2003: Hohenstein Peter; Molenaar Lia; Elsinga Joyce; Morreau Hans; van der Klift Heleen; Struijk Ada; Jagmohan-Changur Shantie; Smits Ron; van Kranen Henk; van Ommen Gert-Jan B; Cornelisse Cees; Devilee Peter; Fodde Riccardo
Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene.
Genes, chromosomes & cancer 2003;36(3):273-82.
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2003: Svensson B Anders T; Kreeft Arja J; van Ommen Gert-Jan B; den Dunnen Johan T; Boer Judith M
GeneHopper: a web-based search engine to link gene-expression platforms through GenBank accession numbers.
Genome biology 2003;4(5):R35.
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2003: Witjes-Ané Marie-Noëlle W; Vegter-van der Vlis Maria; van Vugt Jeroen P P; Lanser Jan B K; Hermans Jo; Zwinderman Aeilko H; van Ommen Gert-Jan B; Roos Raymund A C
Cognitive and motor functioning in gene carriers for Huntington's disease: a baseline study.
The Journal of neuropsychiatry and clinical neurosciences 2003;15(1):7-16.
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2002: Dorsman J C; Bremmer-Bout M; Pepers B; van Ommen G-J B; Den Dunnen J T
Interruption of perfect CAG repeats by CAA triplets improves the stability of glutamine-encoding repeat sequences.
BioTechniques 2002;33(5):976-8.
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2002: Witjes-Ané M-N W; Zwinderman A H; Tibben A; van Ommen G-J B; Roos R A C
Behavioural complaints in participants who underwent predictive testing for Huntington's disease.
Journal of medical genetics 2002;39(11):857-62.
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2002: Lemmers Richard J L F; de Kievit Peggy; Sandkuijl Lodewijk; Padberg George W; van Ommen Gert-Jan B; Frants Rune R; van der Maarel Silvère M
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Nature genetics 2002;32(2):235-6.
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2002: Aartsma-Rus Annemieke; Bremmer-Bout Mattie; Janson Anneke A M; den Dunnen Johan T; van Ommen Gert-Jan B; van Deutekom Judith C T
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 2002;12 Suppl 1():S71-7.
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2002: White Stefan; Kalf Margot; Liu Qiang; Villerius Michel; Engelsma Dieuwke; Kriek Marjolein; Vollebregt Ellen; Bakker Bert; van Ommen Gert-Jan B; Breuning Martijn H; den Dunnen Johan T
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.
American journal of human genetics 2002;71(2):365-74.
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2002: Maat-Kievit Anneke; Losekoot Minique; Zwinderman Koos; Vegter-van der Vlis Maria; Belfroid René; Lopez Fatima; Van Ommen Gert-Jan; Breuning Martijn; Roos Raymund
Predictability of age at onset in Huntington disease in the Dutch population.
Medicine 2002;81(4):251-9.
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2002: Ruivenkamp Claudia A L; van Wezel Tom; Zanon Carlo; Stassen Alphons P M; Vlcek Cestmir; Csikós Tamás; Klous Anita M; Tripodis Nikos; Perrakis Anastassis; Boerrigter Lucie; Groot Peter C; Lindeman Jan; Mooi Wolter J; Meijjer Gerrit A; Scholten Gert; Dauwerse Hans; Paces Vaclav; van Zandwijk Nico; van Ommen Gert Jan B; Demant Peter
Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers.
Nature genetics 2002;31(3):295-300.
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2002: Dorsman Josephine C; Pepers Barry; Langenberg Dennis; Kerkdijk Henri; Ijszenga Marije; den Dunnen Johan T; Roos R A C; van Ommen Gert-Jan B
Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells.
Human molecular genetics 2002;11(13):1487-96.
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2002: van Ommen G J B
The Human Genome Project and the future of diagnostics, treatment and prevention.
Journal of inherited metabolic disease 2002;25(3):183-8.
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2002: Ioan-Facsinay A; de Kimpe S J; Hellwig S M M; van Lent P L; Hofhuis F M A; van Ojik H H; Sedlik C; da Silveira S A; Gerber J; de Jong Y F; Roozendaal R; Aarden L A; van den Berg W B; Saito T; Mosser D; Amigorena S; Izui S; van Ommen G J B; van Vugt M; van de Winkel J G J; Verbeek J S
FcgammaRI (CD64) contributes substantially to severity of arthritis, hypersensitivity responses, and protection from bacterial infection.
Immunity 2002;16(3):391-402.
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2001: Stec I; van Ommen G J; den Dunnen J T
WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3.
Genomics 2001;76(1-3):5-8.
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2001: van Deutekom J C; Bremmer-Bout M; Janson A A; Ginjaar I B; Baas F; den Dunnen J T; van Ommen G J
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.
Human molecular genetics 2001;10(15):1547-54.
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2001: Taschner P E; Jansen J C; Baysal B E; Bosch A; Rosenberg E H; Bröcker-Vriends A H; van Der Mey A G; van Ommen G J; Cornelisse C J; Devilee P
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
Genes, chromosomes & cancer 2001;31(3):274-81.
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2001: Hohenstein P; Kielman M F; Breukel C; Bennett L M; Wiseman R; Krimpenfort P; Cornelisse C; van Ommen G J; Devilee P; Fodde R
A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage.
Oncogene 2001;20(20):2544-50.
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2001: Beekman M; Lakenberg N; Cherny S S; de Knijff P; Kluft C C; van Ommen G J; Vogler G P; Frants R R; Boomsma D I; Slagboom P E
A powerful and rapid approach to human genome scanning using small quantities of genomic DNA.
Genetical research 2001;77(2):129-34.
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2001: Maat-Kievit A; Losekoot M; Van Den Boer-Van Den Berg H; Van Ommen G J; Niermeijer M; Breuning M; Tibben A
New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles.
Journal of medical genetics 2001;38(4):E12.
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2001: Stec I; van Vliet M; van Eijk R; Meijers H; Kroeze K H; Dauwerse J G; van Ommen G J; Cornelisse C J; den Dunnen J T; Devilee P
A partial BRCA1 sequence homology mapping to 4q28.
Cytogenetics and cell genetics 2001;94(1-2):26-9.
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2001: De Voer G; Jansen G; van Ommen G J; Peters D J; Taschner P E
Caenorhabditis elegans homologues of the CLN3 gene, mutated in juvenile neuronal ceroid lipofuscinosis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001;5 Suppl A():115-20.
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2000: Peelen T; de Leeuw W; van Lent K; Morreau H; van Eijk R; van Vliet M; Wijnen J; Ligtenberg M; Ginjaar H B; Zweemer R; Menko F; Fodde R; van Ommen G J; Vasen H F; Cornelisse C J; Devilee P
Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis.
International journal of cancer. Journal international du cancer 2000;88(5):778-82.
-
2000: Stec I; Nagl S B; van Ommen G J; den Dunnen J T
The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?
FEBS letters 2000;473(1):1-5.
-
2000: Petrij F; Dauwerse H G; Blough R I; Giles R H; van der Smagt J J; Wallerstein R; Maaswinkel-Mooy P D; van Karnebeek C D; van Ommen G J; van Haeringen A; Rubinstein J H; Saal H M; Hennekam R C; Peters D J; Breuning M H
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
Journal of medical genetics 2000;37(3):168-76.
-
2000: Peelen T; van Vliet M; Bosch A; Bignell G; Vasen H F; Klijn J G; Meijers-Heijboer H; Stratton M; van Ommen G J; Cornelisse C J; Devilee P
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families.
British journal of cancer 2000;82(1):151-6.
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2000: van der Maarel S M; Deidda G; Lemmers R J; van Overveld P G; van der Wielen M; Hewitt J E; Sandkuijl L; Bakker B; van Ommen G J; Padberg G W; Frants R R
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
American journal of human genetics 2000;66(1):26-35.
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1999: van Schothorst E M; Prins D E; Baysal B E; Beekman M; Licht J D; Waxman S; Zelent A; Cornelisse C J; van Ommen G J; Richard C W; Devilee P
Genomic structure of the human PLZF gene.
Gene 1999;236(1):21-4.
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1999: Dorsman J C; Smoor M A; Maat-Schieman M L; Bout M; Siesling S; van Duinen S G; Verschuuren J J; den Dunnen J T; Roos R A; van Ommen G J
Analysis of the subcellular localization of huntingtin with a set of rabbit polyclonal antibodies in cultured mammalian cells of neuronal origin: comparison with the distribution of huntingtin in Huntington's disease autopsy brain.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1999;354(1386):1061-7.
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1999: Maat-Schieman M L; Dorsman J C; Smoor M A; Siesling S; Van Duinen S G; Verschuuren J J; den Dunnen J T; Van Ommen G J; Roos R A
Distribution of inclusions in neuronal nuclei and dystrophic neurites in Huntington disease brain.
Journal of neuropathology and experimental neurology 1999;58(2):129-37.
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1999: van der Reijden B A; Dauwerse H G; Giles R H; Jagmohan-Changur S; Wijmenga C; Liu P P; Smit B; Wessels H W; Beverstock G C; Jotterand-Bellomo M; Martinet D; Mühlematter D; Lafage-Pochitaloff M; Gabert J; Reiffers J; Bilhou-Nabera C; van Ommen G J; Hagemeijer A; Breuning M H
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered.
Oncogene 1999;18(2):543-50.
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1999: van Ommen G J
Commentary on the current role of human genetics in health care.
Cytogenetics and cell genetics 1999;86(2):140-1.
-
1999: Den Dunnen J T; Van Ommen G J
The protein truncation test: A review.
Human mutation 1999;14(2):95-102.
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1998: Oosterwijk J C; Knepflé C F; Mesker W E; Vrolijk H; Sloos W C; Pattenier H; Ravkin I; van Ommen G J; Kanhai H H; Tanke H J
Strategies for rare-event detection: an approach for automated fetal cell detection in maternal blood.
American journal of human genetics 1998;63(6):1783-92.
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1998: Mesker W E; Ouwerkerk-van Velzen M C; Oosterwijk J C; Bernini L F; Golbus M S; Kanhai H H; Van Ommen G J; Tanke H J
Two-colour immunocytochemical staining of gamma (gamma) and epsilon (epsilon) type haemoglobin in fetal red cells.
Prenatal diagnosis 1998;18(11):1131-7.
-
1998: Oosterwijk J C; Mesker W E; Ouwerkerk-Van Velzen M C; Knepflé C F; Wiesmeijer K C; Beverstock G C; Van Ommen G J; Tanke H J; Kanhai H H
Prenatal diagnosis of trisomy 13 on fetal cells obtained from maternal blood after minor enrichment.
Prenatal diagnosis 1998;18(10):1082-5.
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1998: van Schothorst E M; Beekman M; Torremans P; Kuipers-Dijkshoorn N J; Wessels H W; Bardoel A F; van der Mey A G; van der Vijver M J; van Ommen G J; Devilee P; Cornelisse C J
Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction.
Human pathology 1998;29(10):1045-9.
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1998: Giles R H; Dauwerse H G; van Ommen G J; Breuning M H
Do human chromosomal bands 16p13 and 22q11-13 share ancestral origins?
American journal of human genetics 1998;63(4):1240-2.
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1998: van Schothorst E M; Jansen J C; Grooters E; Prins D E; Wiersinga J J; van der Mey A G; van Ommen G J; Devilee P; Cornelisse C J
Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands.
American journal of human genetics 1998;63(2):468-73.
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1998: Oosterwijk J C; Mesker W E; Ouwerkerk-van Velzen M C; Knepflé C F; Wiesmeijer K C; Beverstock G C; van Ommen G J; Kanhai H H; Tanke H J
Fetal cell detection in maternal blood: a study in 236 samples using erythroblast morphology, DAB and HbF staining, and FISH analysis.
Cytometry 1998;32(3):178-85.
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1998: Oosterwijk J C; Mesker W E; Ouwerkerk-van Velzen M C; Knepflé C F; Wiesmeijer K C; van den Burg M J; Beverstock G C; Bernini L F; van Ommen G J; Kanhai H H; Tanke H J
Development of a preparation and staining method for fetal erythroblasts in maternal blood: simultaneous immunocytochemical staining and FISH analysis.
Cytometry 1998;32(3):170-7.
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1998: Stec I; Wright T J; van Ommen G J; de Boer P A; van Haeringen A; Moorman A F; Altherr M R; den Dunnen J T
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
Human molecular genetics 1998;7(7):1071-82.
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1998: van de Vosse E; Walpole S M; Nicolaou A; van der Bent P; Cahn A; Vaudin M; Ross M T; Durham J; Pavitt R; Wilkinson J; Grafham D; Bergen A A; van Ommen G J; Yates J R; den Dunnen J T; Trump D
Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes.
Genomics 1998;49(1):96-102.
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1997: Giles R H; Dauwerse J G; Higgins C; Petrij F; Wessels J W; Beverstock G C; Döhner H; Jotterand-Bellomo M; Falkenburg J H; Slater R M; van Ommen G J; Hagemeijer A; van der Reijden B A; Breuning M H
Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16).
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1997;11(12):2087-96.
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1997: van de Vosse E; Franco B; van der Bent P; Montini E; Orth U; Hanauer A; Tijmes N; van Ommen G J; Ballabio A; den Dunnen J T; Bergen A A
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis.
Human genetics 1997;101(2):235-7.
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1997: Petrij-Bosch A; Peelen T; van Vliet M; van Eijk R; Olmer R; Drüsedau M; Hogervorst F B; Hageman S; Arts P J; Ligtenberg M J; Meijers-Heijboer H; Klijn J G; Vasen H F; Cornelisse C J; van 't Veer L J; Bakker E; van Ommen G J; Devilee P
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.
Nature genetics 1997;17(3):341-5.
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1997: Roelfsema J H; Spruit L; Saris J J; Chang P; Pirson Y; van Ommen G J; Peters D J; Breuning M H
Mutation detection in the repeated part of the PKD1 gene.
American journal of human genetics 1997;61(5):1044-52.
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1997: Hoogerwaard E M; de Voogt W G; Wilde A A; van der Wouw P A; Bakker E; van Ommen G J; de Visser M
Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period.
Journal of neurology 1997;244(10):657-63.
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1997: van Essen A J; Kneppers A L; van der Hout A H; Scheffer H; Ginjaar I B; ten Kate L P; van Ommen G J; Buys C H; Bakker E
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
Journal of medical genetics 1997;34(10):805-12.
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1997: Oosterwijk J C; Richard G; van der Wielen M J; van de Vosse E; Harth W; Sandkuijl L A; Bakker E; van Ommen G J
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.
Human genetics 1997;100(5-6):520-4.
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1997: Kant S G; Van Haeringen A; Bakker E; Stec I; Donnai D; Mollevanger P; Beverstock G C; Lindeman-Kusse M C; Van Ommen G J
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
Journal of medical genetics 1997;34(7):569-72.
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1997: Van de Vosse E; Van der Bent P; Heus J J; Van Ommen G J; Den Dunnen J T
High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(7):497-501.
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1997: Heus J J; de Winther M P; van de Vosse E; van Ommen G J; den Dunnen J T
Centromeric and noncentromeric ADE2-selectable fragmentation vectors for yeast artificial chromosomes in AB1380.
Genome research 1997;7(6):657-60.
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1997: Giles R H; Petrij F; Dauwerse H G; den Hollander A I; Lushnikova T; van Ommen G J; Goodman R H; Deaven L L; Doggett N A; Peters D J; Breuning M H
Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.
Genomics 1997;42(1):96-114.
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1996: Oosterwijk J C; Mesker W E; Ouwerkerk M C; Knepflé C F; van der Burg M J; Wiesmeijer C C; Beverstock G C; Losekoot M; Bernini L F; van Ommen G J; van de Kamp J J; Kanhai H H; Tanke H J
Detection of fetal erythroblasts in maternal blood by one-step gradient enrichment and immunocytochemical recognition.
Early human development 1996;47 Suppl():S95-7.
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1996: Tanke H J; Oosterwijk J C; Mesker W E; Ouwerkerk van-Velzen M C; Knepflé C F; Wiesmeyer C C; van Ommen G J; Kanhai H H; Vrolijk J
Detection of 'rare event' fetal erythroblasts in maternal blood using automated microscopy.
Early human development 1996;47 Suppl():S89-93.
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1996: Florijn R J; van de Rijke F M; Vrolijk H; Blonden L A; Hofker M H; den Dunnen J T; Tanke H J; van Ommen G J; Raap A K
Exon mapping by fiber-FISH or LR-PCR.
Genomics 1996;38(3):277-82.
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1996: Datson N A; Semina E; van Staalduinen A A; Dauwerse H G; Meershoek E J; Heus J J; Frants R R; den Dunnen J T; Murray J C; van Ommen G J
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.
American journal of human genetics 1996;59(6):1297-305.
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1996: Semina E V; Datson N A; Leysens N J; Zabel B U; Carey J C; Bell G I; Bitoun P; Lindgren C; Stevenson T; Frants R R; van Ommen G; Murray J C
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.
American journal of human genetics 1996;59(6):1288-96.
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1996: Roest P A; Bout M; van der Tuijn A C; Ginjaar I B; Bakker E; Hogervorst F B; van Ommen G J; den Dunnen J T
Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
Journal of medical genetics 1996;33(11):935-9.
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1996: Ophoff R A; Terwindt G M; Vergouwe M N; van Eijk R; Oefner P J; Hoffman S M; Lamerdin J E; Mohrenweiser H W; Bulman D E; Ferrari M; Haan J; Lindhout D; van Ommen G J; Hofker M H; Ferrari M D; Frants R R
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
Cell 1996;87(3):543-52.
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1996: van der Kooi A J; Barth P G; Busch H F; de Haan R; Ginjaar H B; van Essen A J; van Hooff L J; Höweler C J; Jennekens F G; Jongen P; Oosterhuis H J; Padberg G W; Spaans F; Wintzen A R; Wokke J H; Bakker E; van Ommen G J; Bolhuis P A; de Visser M
The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.
Brain : a journal of neurology 1996;119 ( Pt 5)():1471-80.
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1996: van der Steege G; Grootscholten P M; Cobben J M; Zappata S; Scheffer H; den Dunnen J T; van Ommen G J; Brahe C; Buys C H
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
American journal of human genetics 1996;59(4):834-8.
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1996: van der Reijden B A; Martinet D; Dauwerse J G; Giles R H; Wessels J W; Beverstock G C; Smit B; Mühlematter D; Jotterand Bellomo M; Gabert J; Lafage-Pochitaloff M; Reiffers J; Bilhou-Nabera C; van Ommen G J; Hagemeijer A; Breuning M H
Simple method for detection of MYH11 DNA rearrangements in patients with inv(16)(p13q22) and acute myeloid leukemia.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1996;10(9):1459-62.
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1996: De Rooij K E; Dorsman J C; Smoor M A; Den Dunnen J T; Van Ommen G J
Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation.
Human molecular genetics 1996;5(8):1093-9.
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1996: Vaandrager J W; Schuuring E; Zwikstra E; de Boer C J; Kleiverda K K; van Krieken J H; Kluin-Nelemans H C; van Ommen G J; Raap A K; Kluin P M
Direct visualization of dispersed 11q13 chromosomal translocations in mantle cell lymphoma by multicolor DNA fiber fluorescence in situ hybridization.
Blood 1996;88(4):1177-82.
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1996: Roest P A; van der Tuijn A C; Ginjaar H B; Hoeben R C; Hoger-Vorst F B; Bakker E; den Dunnen J T; van Ommen G J
Application of in vitro Myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins.
Neuromuscular disorders : NMD 1996;6(3):195-202.
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1996: Datson N A; van de Vosse E; Dauwerse H G; Bout M; van Ommen G J; den Dunnen J T
Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product.
Nucleic acids research 1996;24(6):1105-11.
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1996: van der Reijden B A; van Ommen G J; Hagemeijer A; Breuning M H
Acute myelogenous leukemia: a disorder of gene splicing?
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1996;10(2):204-6.
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1996: van Schothorst E M; Jansen J C; Bardoel A F; van der Mey A G; James M J; Sobol H; Weissenbach J; van Ommen G J; Cornelisse C J; Devilee P
Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes.
European journal of human genetics : EJHG 1996;4(5):267-73.
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1996: Van de Vosse E; Bergen A A; Meershoek E J; Oosterwijk J C; Gregory S; Bakker B; Weissenbach J; Coffey A J; van Ommen G J; Den Dunnen J T
An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.
European journal of human genetics : EJHG 1996;4(2):101-4.
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1995: van der Steege G; Cobben J M; Osinga J; Scheffer H; van Ommen G J; Buys C H
A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.
Human genetics 1995;96(5):589-91.
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1995: Raghoebier S; Broos L; Kramer M H; van Krieken J H; Kluin-Nelemans J C; van Ommen G J; Kluin P
Histological conversion of follicular lymphoma with structural alterations of t(14;18) and immunoglobin genes.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1995;9(10):1748-55.
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1995: Rosenberg C; Florijn R J; Van de Rijke F M; Blonden L A; Raap T K; Van Ommen G J; Den Dunnen J T
High resolution DNA fiber-fish on yeast artificial chromosomes: direct visualization of DNA replication.
Nature genetics 1995;10(4):477-9.
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1995: van der Reijden B A; Lombardo M; Dauwerse H G; Giles R H; Mühlematter D; Bellomo M J; Wessels H W; Beverstock G C; van Ommen G J; Hagemeijer A
RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts.
Blood 1995;86(1):277-82.
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1995: Petrij F; Giles R H; Dauwerse H G; Saris J J; Hennekam R C; Masuno M; Tommerup N; van Ommen G J; Goodman R H; Peters D J
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
Nature 1995;376(6538):348-51.
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1995: Bergen A A; Van den Born L I; Schuurman E J; Pinckers A J; Van Ommen G J; Bleekers-Wagemakers E M; Sandkuijl L A
Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families.
Ophthalmic genetics 1995;16(2):63-70.
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1995: Limpens J; Stad R; Vos C; de Vlaam C; de Jong D; van Ommen G J; Schuuring E; Kluin P M
Lymphoma-associated translocation t(14;18) in blood B cells of normal individuals.
Blood 1995;85(9):2528-36.
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1995: Florijn R J; Bonden L A; Vrolijk H; Wiegant J; Vaandrager J W; Baas F; den Dunnen J T; Tanke H J; van Ommen G J; Raap A K
High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes.
Human molecular genetics 1995;4(5):831-6.
-
1995: van Ommen G J
A foundation for limb-girdle muscular dystrophy.
Nature medicine 1995;1(5):412-4.
-
1995: De Rooij K E; De Koning Gans P A; Roos R A; Van Ommen G J; Den Dunnen J T
Somatic expansion of the (CAG)n repeat in Huntington disease brains.
Human genetics 1995;95(3):270-4.
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1995: Kneppers A L; Deutz-Terlouw P P; den Dunnen J T; van Ommen G J; Bakker E
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.
Human mutation 1995;5(3):235-42.
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1995: Heikoop J C; Hogervorst F B; Meershoek E J; Grootscholten P M; den Dunnen J T; van Ommen G J
Expression of the human Dp 71 (apo-dystrophin-1) gene from a 760-kb DMD-YAC transferred to mouse cells.
European journal of human genetics : EJHG 1995;3(3):168-79.
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1995: van der Steege G; Draaijers T G; Grootscholten P M; Osinga J; Anzevino R; Velonà I; Den Dunnen J T; Scheffer H; Brahe C; van Ommen G J
A provisional transcript map of the spinal muscular atrophy (SMA) critical region.
European journal of human genetics : EJHG 1995;3(2):87-95.
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1994: van der Steege G; Cobben J M; Brahe C; Osinga J; Zappata S; Scheffer H; Neri G; van Ommen G J; ten Kate L P; Buys C H
Identification of key recombinants in multiplex SMA families.
Genomics 1994;22(1):219-22.
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1994: Blonden L A; Terwindt G M; Den Dunnen J T; Van Ommen G J
A polymorphic STS in intron 44 of the dystrophin gene.
Human genetics 1994;93(4):479-80.
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1994: Cobben J M; Scheffer H; de Visser M; Begeer J H; Molenaar W M; van der Steege G; Buys C H; van Ommen G J; Ten Kate L P
Apparent SMA I unlinked to 5q.
Journal of medical genetics 1994;31(3):242-4.
-
1994: Heikoop J C; Steensma Y; van Ommen G J; den Dunnen J T
A simple and rapid method for separating co-cloned YACs.
Trends in genetics : TIG 1994;10(2):40.
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1994: Wijmenga C; van Deutekom J C; Hewitt J E; Padberg G W; van Ommen G J; Hofker M H; Frants R R
Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.
Genomics 1994;19(1):21-6.
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1994: Heutink P; van Schothorst E M; van der Mey A G; Bardoel A; Breedveld G; Pertijs J; Sandkuijl L A; van Ommen G J; Cornelisse C J; Oostra B A
Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families.
European journal of human genetics : EJHG 1994;2(3):148-58.
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1993: De Rooij K E; De Koning Gans P A; Skraastad M I; Belfroid R D; Vegter-Van Der Vlis M; Roos R A; Bakker E; Van Ommen G J; Den Dunnen J T; Losekoot M
Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.
Journal of medical genetics 1993;30(12):996-1002.
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1993: Van De Vosse E; Booms P F; Vossen R H; Wapenaar M C; Van Ommen G J; Den Dunnen J T
A CA-repeat polymorphism near DXS418 (P122).
Human molecular genetics 1993;2(12):2202.
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1993: Hoogeveen A T; Willemsen R; Meyer N; de Rooij K E; Roos R A; van Ommen G J; Galjaard H
Characterization and localization of the Huntington disease gene product.
Human molecular genetics 1993;2(12):2069-73.
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1993: van Deutekom J C; Wijmenga C; van Tienhoven E A; Gruter A M; Hewitt J E; Padberg G W; van Ommen G J; Hofker M H; Frants R R
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.
Human molecular genetics 1993;2(12):2037-42.
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1993: de Rooij K E; de Koning Gans P A; Losekoot M; Bakker E; den Dunnen J T; Vegter-van der Vlis M; Roos R A; van Ommen G J
Borderline repeat expansion in Huntington's disease.
Lancet 1993;342(8885):1491-2.
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1993: Bergen A A; Meire F; ten Brink J; Schuurman E J; van Ommen G J; Delleman J W
Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3.
Genomics 1993;18(2):463-4.
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1993: van der Reijden B A; Dauwerse J G; Wessels J W; Beverstock G C; Hagemeijer A; van Ommen G J; Breuning M H
A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo.
Blood 1993;82(10):2948-52.
-
1993: Roest P A; Roberts R G; Sugino S; van Ommen G J; den Dunnen J T
Protein truncation test (PTT) for rapid detection of translation-terminating mutations.
Human molecular genetics 1993;2(10):1719-21.
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1993: Wijmenga C; Wright T J; Baan M J; Padberg G W; Williamson R; van Ommen G J; Hewitt J E; Hofker M H; Frants R R
Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.
Human molecular genetics 1993;2(10):1667-72.
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1993: Wijmenga C; Frants R R; Hewitt J E; van Deutekom J C; van Geel M; Wright T J; Padberg G W; Hofker M H; van Ommen G J
Molecular genetics of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 1993;3(5-6):487-91.
-
1993: Roest P A; Roberts R G; van der Tuijn A C; Heikoop J C; van Ommen G J; den Dunnen J T
Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations.
Neuromuscular disorders : NMD 1993;3(5-6):391-4.
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1993: Schaefer L; Ferrero G B; Grillo A; Bassi M T; Roth E J; Wapenaar M C; van Ommen G J; Mohandas T K; Rocchi M; Zoghbi H Y
A high resolution deletion map of human chromosome Xp22.
Nature genetics 1993;4(3):272-9.
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1993: Cobben J M; Scheffer H; De Visser M; Osinga J; Frants R; van der Steege G; Wijmenga C; ten Kate L P; van Ommen G J; Buys C H
Linkage and apparent heterogeneity in proximal spinal muscular atrophies.
Neuromuscular disorders : NMD 1993;3(4):327-33.
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1993: Limpens J; Beelen M; Stad R; Haverkort M; van Krieken J H; van Ommen G J; Kluin P M
Detection of the t(14;18) translocation in frozen and formalin-fixed tissue.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 1993;2(2):99-107.
-
1993: van Ommen G J; Scheuerbrandt G
Neonatal screening for muscular dystrophy. Consensus recommendation of the 14th workshop sponsored by the European Neuromuscular Center (ENMC).
Neuromuscular disorders : NMD 1993;3(3):231-9.
-
1993: Bergen A A; Zijp P; Schuurman E J; Bleeker-Wagemakers E M; Apkarian P; van Ommen G J
Refinement of the localization of the X-linked ocular albinism gene.
Genomics 1993;16(1):272-3.
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1993: Cobben J M; de Visser M; Scheffer H; Osinga J; van der Steege G; Buys C H; van Ommen G J; ten Kate L P
Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.
Journal of neurology, neurosurgery, and psychiatry 1993;56(3):319-21.
-
1993: Klink A; Wapenaar M; van Ommen G J; Rappold G
AK1 detects a VNTR locus in the pseudoautosomal region.
Human molecular genetics 1993;2(3):339.
-
1993: Breuning M H; Dauwerse H G; Fugazza G; Saris J J; Spruit L; Wijnen H; Tommerup N; van der Hagen C B; Imaizumi K; Kuroki Y; van den Boogaard M J; de Pater J M; Mariman E C; Hamel B C; Himmelbauer H; Frischauf A M; Stallings R; Beverstock G C; van Ommen G J; Hennekam R C
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
American journal of human genetics 1993;52(2):249-54.
-
1993: Bergen A A; Wapenaar M C; Schuurman E J; Diergaarde P J; Lerach H; Monaco A P; Bakker E; Bleeker-Wagemakers E M; van Ommen G J
Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.
Cytogenetics and cell genetics 1993;62(4):231-5.
-
1992: Nicholson L V; Bushby K M; Johnson M A; den Dunnen J T; Ginjaar I B; van Ommen G J
Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.
Journal of medical genetics 1992;29(12):892-6.
-
1992: Nguyen T M; Ginjaar I B; van Ommen G J; Morris G E
Monoclonal antibodies for dystrophin analysis. Epitope mapping and improved binding to SDS-treated muscle sections.
The Biochemical journal 1992;288 ( Pt 2)():663-8.
-
1992: Passos-Bueno M R; Bakker E; Kneppers A L; Takata R I; Rapaport D; den Dunnen J T; Zatz M; van Ommen G J
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.
American journal of human genetics 1992;51(5):1150-5.
-
1992: Nieuwenhuijsen B W; Chen K L; Chinault A C; Wang S; Valmiki V H; Meershoek E J; van Ommen G J; Fischbeck K H
A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region.
Human molecular genetics 1992;1(8):605-12.
-
1992: Dauwerse J G; Wiegant J; Raap A K; Breuning M H; van Ommen G J
Multiple colors by fluorescence in situ hybridization using ratio-labelled DNA probes create a molecular karyotype.
Human molecular genetics 1992;1(8):593-8.
-
1992: Wiegant J; Kalle W; Mullenders L; Brookes S; Hoovers J M; Dauwerse J G; van Ommen G J; Raap A K
High-resolution in situ hybridization using DNA halo preparations.
Human molecular genetics 1992;1(8):587-91.
-
1992: Skraastad M I; Van de Vosse E; Belfroid R; Höld K; Vegter-van der Vlis M; Sandkuijl L A; Bakker E; van Ommen G J
Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population.
American journal of human genetics 1992;51(4):730-5.
-
1992: Tibben A; Vegter-van der Vlis M; Skraastad M I; Frets P G; van der Kamp J J; Niermeijer M F; van Ommen G J; Roos R A; Rooijmans H G; Stronks D
DNA-testing for Huntington's disease in The Netherlands: a retrospective study on psychosocial effects.
American journal of medical genetics 1992;44(1):94-9.
-
1992: Wijmenga C; Sandkuijl L A; Moerer P; van der Boorn N; Bodrug S E; Ray P N; Brouwer O F; Murray J C; van Ommen G J; Padberg G W
Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.
American journal of human genetics 1992;51(2):411-5.
-
1992: Ginjaar H B; van Paassen H B; den Dunnen J T; Man N T; Morris G E; Moorman A F; van Ommen G J
Construction of dystrophin fusion proteins to raise targeted antibodies to different epitopes.
FEBS letters 1992;308(3):293-7.
-
1992: Wapenaar M C; Petit C; Basler E; Ballabio A; Henke A; Rappold G A; van Paassen H M; Blonden L A; van Ommen G J
Physical mapping of 14 new DNA markers isolated from the human distal Xp region.
Genomics 1992;13(1):167-75.
-
1992: Rapaport D; Lederfein D; den Dunnen J T; Grootscholten P M; Van Ommen G J; Fuchs O; Nudel U; Yaffe D
Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene.
Differentiation; research in biological diversity 1992;49(3):187-93.
-
1992: Heutink P; van der Mey A G; Sandkuijl L A; van Gils A P; Bardoel A; Breedveld G J; van Vliet M; van Ommen G J; Cornelisse C J; Oostra B A
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.
Human molecular genetics 1992;1(1):7-10.
-
1992: Dauwerse J G; Jumelet E A; Wessels J W; Saris J J; Hagemeijer A; Beverstock G C; van Ommen G J; Breuning M H
Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations.
Blood 1992;79(5):1299-304.
-
1992: Bergen A A; Schuurman E J; van den Born L I; Samanns C; van Dorp D B; Pinckers A J; Bakker E; van Ommen G J; Gal A; Bleeker-Wagemakers E M
Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.
Clinical genetics 1992;41(3):135-8.
-
1992: Breuning M H; Saris J J; Dauwerse J G; Breslau-Siderius L; Wapenaar M C; van Ommen G J
Search for the gene responsible for polycystic kidney disease and its clinical consequences.
Advances in nephrology from the Necker Hospital 1992;21():117-24.
-
1991: Driesen M S; Dauwerse J G; Wapenaar M C; Meershoek E J; Mollevanger P; Chen K L; Fischbeck K H; van Ommen G J
Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library.
Genomics 1991;11(4):1079-87.
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1991: Limpens J; de Jong D; van Krieken J H; Price C G; Young B D; van Ommen G J; Kluin P M
Bcl-2/JH rearrangements in benign lymphoid tissues with follicular hyperplasia.
Oncogene 1991;6(12):2271-6.
-
1991: Bergen A A; Samanns C; Schuurman E J; van Osch L; van Dorp D B; Pinckers A J; Bakker E; Gal A; van Ommen G J; Bleeker-Wagemakers E M
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.
Human genetics 1991;88(2):162-6.
-
1991: Raghoebier S; Kramer M H; van Krieken J H; de Jong D; Limpens J; Kluin-Nelemans J C; van Ommen G J; Kluin P M
Essential differences in oncogene involvement between primary nodal and extranodal large cell lymphoma.
Blood 1991;78(10):2680-5.
-
1991: Henke A; Wapenaar M; van Ommen G J; Maraschio P; Camerino G; Rappold G
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.
American journal of human genetics 1991;49(4):811-9.
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1991: Bakker E; van Broeckhoven C; Haan J; Voorhoeve E; van Hul W; Levy E; Lieberburg I; Carman M D; van Ommen G J; Frangione B
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)
American journal of human genetics 1991;49(3):518-21.
-
1991: Ginjaar I B; Bakker E; van Paassen M M; den Dunnen J T; Wessels A; Zubrzycka-Gaarn E E; Moorman A F; van Ommen G J
Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.
Journal of medical genetics 1991;28(8):505-10.
-
1991: Ginjaar I B; Soffers S; Moorman A F; Nicholson L V; Morris G E; Bakker E; van Haeringen A; van Ommen G J
Fetal dystrophin to diagnose carrier status.
Lancet 1991;338(8761):258-9.
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1991: Bergen A A; Platje E J; Craig I; Bakker E; Bleeker-Wagemakers E M; van Ommen G J
Carrier detection in X-linked retinitis pigmentosa by multipoint DNA analysis. Problems due to genetic heterogeneity.
Ophthalmic paediatrics and genetics 1991;12(2):99-103.
-
1991: Skraastad M I; Verwest A; Bakker E; Vegter-van der Vlis M; van Leeuwen-Cornelisse I; Roos R A; Pearson P L; van Ommen G J
Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers.
American journal of medical genetics 1991;39(2):217-22.
-
1991: Raghoebier S; van Krieken J H; Kluin-Nelemans J C; Gillis A; van Ommen G J; Ginsberg A M; Raffeld M; Kluin P M
Oncogene rearrangements in chronic B-cell leukemia.
Blood 1991;77(7):1560-4.
-
1991: Wessels A; Ginjaar I B; Moorman A F; van Ommen G J
Different localization of dystrophin in developing and adult human skeletal muscle.
Muscle & nerve 1991;14(1):1-7.
-
1991: den Dunnen J T; Casula L; Makover A; Bakker B; Yaffe D; Nudel U; van Ommen G J
Mapping of dystrophin brain promoter: a deletion of this region is compatible with normal intellect.
Neuromuscular disorders : NMD 1991;1(5):327-31.
-
1990: van der Harst D; de Jong D; Limpens J; Kluin P M; Rozier Y; van Ommen G J; Brand A
Clonal B-cell populations in patients with idiopathic thrombocytopenic purpura.
Blood 1990;76(11):2321-6.
-
1990: Nguyen T M; Ellis J M; Ginjaar I B; van Paassen M M; van Ommen G J; Moorman A F; Cartwright A J; Morris G E
Monoclonal antibody evidence for structural similarities between the central rod regions of actinin and dystrophin.
FEBS letters 1990;272(1-2):109-12.
-
1990: Ellis J M; Man N T; Morris G E; Ginjaar I B; Moorman A F; van Ommen G J
Specificity of dystrophin analysis improved with monoclonal antibodies.
Lancet 1990;336(8719):881-2.
-
1990: van Krieken J H; Raffeld M; Raghoebier S; Jaffe E S; van Ommen G J; Kluin P M
Molecular genetics of gastrointestinal non-Hodgkin's lymphomas: unusual prevalence and pattern of c-myc rearrangements in aggressive lymphomas.
Blood 1990;76(4):797-800.
-
1990: Snijdewint F G; Saris J J; Dauwerse J G; Breuning M H; van Ommen G J
Probe 218EP6 (D16S246) detects RFLP's close to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16.
Nucleic acids research 1990;18(10):3108.
-
1990: Breuning M H; Snijdewint F G; Smits J R; Dauwerse J G; Saris J J; van Ommen G J
A TaqI polymorphism identified by 26-6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16.
Nucleic acids research 1990;18(10):3106.
-
1990: Saris J J; Breuning M H; Dauwerse H G; Snijdewint F G; Top B; Fodde R; van Ommen G J
Rapid detection of polymorphism near gene for adult polycystic kidney disease.
Lancet 1990;335(8697):1102-3.
-
1990: Wapenaar M C; Pearson P L; van Ommen G J
P9 (DXYS75) detects a VNTR-type RFLP in the pseudoautosomal region.
Nucleic acids research 1990;18(2):384.
-
1990: Kievits T; Dauwerse J G; Wiegant J; Devilee P; Breuning M H; Cornelisse C J; van Ommen G J; Pearson P L
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization.
Cytogenetics and cell genetics 1990;53(2-3):134-6.
-
1990: Dauwerse J G; Kievits T; Beverstock G C; van der Keur D; Smit E; Wessels H W; Hagemeijer A; Pearson P L; van Ommen G J; Breuning M H
Rapid detection of chromosome 16 inversion in acute nonlymphocytic leukemia, subtype M4: regional localization of the breakpoint in 16p.
Cytogenetics and cell genetics 1990;53(2-3):126-8.
-
1990: Kievits T; Devilee P; Wiegant J; Wapenaar M C; Cornelisse C J; van Ommen G J; Pearson P L
Direct nonradioactive in situ hybridization of somatic cell hybrid DNA to human lymphocyte chromosomes.
Cytometry 1990;11(1):105-9.
-
1990: Wapenaar M C; Kievits T; Meera Khan P; Pearson P L; Van Ommen G J
Isolation and characterization of cell hybrids containing human Xp-chromosome fragments.
Cytogenetics and cell genetics 1990;54(1-2):10-4.
-
1990: Ginjaar I B; Bakker E; den Dunnen J T; Wessels A; van Paassen M M; Kloosterman M D; Zubrzycka-Gaarn E E; Fischbeck K H; Moorman A F; van Ommen G J
Detection of truncated dystrophin in fetal DMD myotubes.
Advances in experimental medicine and biology 1990;280():17-23.
-
1989: Den Dunnen J T; Grootscholten P M; Bakker E; Blonden L A; Ginjaar H B; Wapenaar M C; van Paassen H M; van Broeckhoven C; Pearson P L; van Ommen G J
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
American journal of human genetics 1989;45(6):835-47.
-
1989: Ginjaar I B; Bakker E; den Dunnen J T; van Paassen M M; van Ommen G J; Zubrzycka-Gaarn E; Kloosterman M D; Wessels A; Moorman A F
Immunological study of dystrophin in Duchenne fetus.
Lancet 1989;2(8673):1212-3.
-
1989: Bakker E; Veenema H; Den Dunnen J T; van Broeckhoven C; Grootscholten P M; Bonten E J; van Ommen G J; Pearson P L
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.
Journal of medical genetics 1989;26(9):553-9.
-
1989: Breuning M H; Dauwerse J G; Saris J J; van Ommen G J; Pearson P L
RFLP for an anonymous single copy clone at 16pter-16p13.1 [D16S127]
Nucleic acids research 1989;17(14):5872.
-
1989: Blonden L A; den Dunnen J T; van Paassen H M; Wapenaar M C; Grootscholten P M; Ginjaar H B; Bakker E; Pearson P L; van Ommen G J
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.
Nucleic acids research 1989;17(14):5611-21.
-
1989: Dahl N; Hammarström-Heeroma K; Goonewardena P; Wadelius C; Gustavson K H; Holmgren G; van Ommen G J; Pettersson U
Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.
Human genetics 1989;82(3):216-8.
-
1989: Skraastad M I; Bakker E; de Lange L F; Vegter-van der Vlis M; Klein-Breteler E G; van Ommen G J; Pearson P L
Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region.
American journal of human genetics 1989;44(4):560-6.
-
1989: Van Ommen G J; Sterk A; Mercken L O; Arnberg A C; Baas F; De Vijlder J J
Studies on the structures of the normal and abnormal goat thyroglobulin genes.
Biochimie 1989;71(2):211-21.
-
1989: Goonewardena P; Dahl N; Ritzén M; van Ommen G J; Pettersson U
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
Clinical genetics 1989;35(1):5-12.
-
1989: McCabe E R; Towbin J; Chamberlain J; Baumbach L; Witkowski J; van Ommen G J; Koenig M; Kunkel L M; Seltzer W K
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
The Journal of clinical investigation 1989;83(1):95-9.
-
1989: Bakker E; Bonten E J; den Dunnen J T; Veenema H; Grootscholten P M; van Ommen G J; Pearson P L
Carrier detection and prenatal diagnosis of Duchenne/Becker muscular dystrophy (D/BMD) by DNA-analysis.
Progress in clinical and biological research 1989;306():51-67.
-
1989: Breuning M H; Verwest A; Ijdo J; Saris J J; Keith T; Reeders S T; van Ommen G J; Pearson P L
Characterization of new probes for diagnosis of polycystic kidney disease (PKD1).
Progress in clinical and biological research 1989;305():69-75.
-
1989: Bakker E; Bonten E J; Veenema H; den Dunnen J T; Grootscholten P M; van Ommen G J; Pearson P L
Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field.
Journal of inherited metabolic disease 1989;12 Suppl 1():174-90.
-
1988: Lindlöf M; Kääriäinen H; van Ommen G J; de la Chapelle A
Microdeletions in patients with X-linked muscular dystrophy: molecular-clinical correlations.
Clinical genetics 1988;33(2):131-9.
-
1987: van Ommen G J; Bertelson C; Ginjaar H B; den Dunnen J T; Bakker E; Chelly J; Matton M; van Essen A J; Bartley J; Kunkel L M
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.
Genomics 1987;1(4):329-36.
-
1987: Breuning M H; Reeders S T; Brunner H; Ijdo J W; Saris J J; Verwest A; van Ommen G J; Pearson P L
Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers.
Lancet 1987;2(8572):1359-61.
-
1987: Bakker E; Skraastad M I; Fisser-Groen Y M; van Ommen G J; Pearson P L
Two additional RFLPs at the D4S10 locus, useful for Huntington's disease (HD)-family studies.
Nucleic acids research 1987;15(21):9100.
-
1987: den Dunnen J T; Bakker E; Breteler E G; Pearson P L; van Ommen G J
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.
Nature 1987;329(6140):640-2.
-
1987: Bakker E; Van Broeckhoven C; Bonten E J; van de Vooren M J; Veenema H; Van Hul W; Van Ommen G J; Vandenberghe A; Pearson P L
Germline mosaicism and Duchenne muscular dystrophy mutations.
Nature 1987;329(6139):554-6.
-
1987: Kok K; van Dijk J E; Sterk A; Baas F; van Ommen G J; de Vijlder J J
Autosomal recessive inheritance of goiter in Dutch goats.
The Journal of heredity 1987;78(5):298-300.
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1987: Hofker M H; Bergen A A; Skraastad M I; Carpenter N J; Veenema H; Connor J M; Bakker E; van Ommen G J; Pearson P L
Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.
American journal of human genetics 1987;40(4):312-28.
-
1986: Bakker E; Bonten E J; De Lange L F; Veenema H; Majoor-Krakauer D; Hofker M H; Van Ommen G J; Pearson P L
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.
Journal of medical genetics 1986;23(6):573-80.
-
1986: Hofker M H; Bergen A A; Skraastad M I; Bakker E; Francke U; Wieringa B; Bartley J; van Ommen G J; Pearson P L
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Human genetics 1986;74(3):275-9.
-
1986: Hofker M H; Skraastad M I; Bergen A A; Wapenaar M C; Bakker E; Millington-Ward A; van Ommen G J; Pearson P L
The X chromosome shows less genetic variation at restriction sites than the autosomes.
American journal of human genetics 1986;39(4):438-51.
-
1986: Baas F; van Ommen G J; Bikker H; Arnberg A C; de Vijlder J J
The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb.
Nucleic acids research 1986;14(13):5171-86.
-
1986: Kunkel L M; Hejtmancik J F; Caskey C T; Speer A; Monaco A P; Middlesworth W; Colletti C A; Bertelson C; Müller U; Bresnan M; Shapiro F; Tantravahi U; Speer J; Latt S A; Bartlett R; Pericak-Vance M A; Roses A D; Thompson M W; Ray P N; Worton R G; Fischbeck K H; Gallano P; Coulon M; Duros C; Boue J; Junien C; Chelly J; Hamard G; Jeanpierre M; Lambert M; Kaplan J C; Emery A; Dorkins H; McGlade S; Davies K E; Boehm C; Arveiler B; Lemaire C; Morgan G J; Denton M J; Amos J; Bobrow M; Benham F; Boswinkel E; Cole C; Dubowitz V; Hart K; Hodgson S; Johnson L; Walker A; Roncuzzi L; Ferlini A; Nobile C; Romeo G; Wilcox D E; Affara N A; Ferguson-Smith M A; Lindolf M; Kaariainen H; de la Chapelle A; Ionasescu V; Searby C; Ionasescu R; Bakker E; van Ommen G J; Pearson P L; Greenberg C R; Hamerton J L; Wrogemann K; Doherty R A; Polakowska R; Hyser C; Quirk S; Thomas N; Harper J F; Darras B T; Francke U
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
-
1985: Hofker M H; Wapenaar M C; Goor N; Bakker E; van Ommen G J; Pearson P L
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.
Human genetics 1985;70(2):148-56.
-
1985: Baas F; Bikker H; Geurts van Kessel A; Melsert R; Pearson P L; de Vijlder J J; van Ommen G J
The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24.
Human genetics 1985;69(2):138-43.
-
1984: Baas F; Bikker H; van Ommen G J; de Vijlder J J
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.
Human genetics 1984;67(3):301-5.
-
1983: van Ommen G J; Arnberg A C; Baas F; Brocas H; Sterk A; Tegelaers W H; Vassart G; de Vijlder J J
The human thyroglobulin gene contains two 15-17 kb introns near its 3'-end.
Nucleic acids research 1983;11(8):2273-85.
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