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Johan den Dunnen

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Vossen Rolf H A M; Aten Emmelien; Roos Anja; den Dunnen Johan T
High-resolution melting analysis (HRMA): more than just sequence variant screening.
Almomani Rowida; van der Stoep Nienke; Bakker Egbert; den Dunnen Johan T; Breuning Martijn H; Ginjaar Ieke B
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
Helderman-van den Enden A T J M; de Jong R; den Dunnen J T; Houwing-Duistermaat J J; Kneppers A L J; Ginjaar H B; Breuning M H; Bakker E
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.

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All Publications

2009: Vossen Rolf H A M; Aten Emmelien; Roos Anja; den Dunnen Johan T
High-resolution melting analysis (HRMA): more than just sequence variant screening.
Human mutation 2009;30(6):860-6.
2009: Almomani Rowida; van der Stoep Nienke; Bakker Egbert; den Dunnen Johan T; Breuning Martijn H; Ginjaar Ieke B
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
Neuromuscular disorders : NMD 2009;19(6):383-90.
2009: Helderman-van den Enden A T J M; de Jong R; den Dunnen J T; Houwing-Duistermaat J J; Kneppers A L J; Ginjaar H B; Breuning M H; Bakker E
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
Clinical genetics 2009;75(5):465-72.
2009: Aten Emmelien; den Hollander Nicolette; Ruivenkamp Claudia; Knijnenburg Jeroen; van Bokhoven Hans; den Dunnen Johan; Breuning Martijn
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?
American journal of medical genetics. Part A 2009;149A(5):975-81.
2009: den Dunnen Johan T; Sijmons Rolf H; Andersen Paal S; Vihinen Mauno; Beckmann Jacques S; Rossetti Sandro; Talbot C Conover; Hardison Ross C; Povey Sue; Cotton Richard G H
Sharing data between LSDBs and central repositories.
Human mutation 2009;30(4):493-5.
2009: Aartsma-Rus Annemieke; Fokkema Ivo; Verschuuren Jan; Ginjaar Ieke; van Deutekom Judith; van Ommen Gert-Jan; den Dunnen Johan T
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.
Human mutation 2009;30(3):293-9.
2009: Kersbergen Paula; van Duijn Kate; Kloosterman Ate D; den Dunnen Johan T; Kayser Manfred; de Knijff Peter
Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans.
BMC genetics 2009;10():69.
2009: Kerstens Hindrik H D; Crooijmans Richard P M A; Veenendaal Albertine; Dibbits Bert W; Chin-A-Woeng Thomas F C; den Dunnen Johan T; Groenen Martien A M
Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey.
BMC genomics 2009;10():479.
2009: van Iterson M; 't Hoen P A C; Pedotti P; Hooiveld G J E J; den Dunnen J T; van Ommen G J B; Boer J M; Menezes R X
Relative power and sample size analysis on gene expression profiling data.
BMC genomics 2009;10():439.
2009: Mozaffari Melika; Hoogeveen-Westerveld Marianne; Kwiatkowski David; Sampson Julian; Ekong Rosemary; Povey Sue; den Dunnen Johan T; van den Ouweland Ans; Halley Dicky; Nellist Mark
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
BMC medical genetics 2009;10():88.
2009: Amaral Andreia J; Megens Hendrik-Jan; Kerstens Hindrik H D; Heuven Henri C M; Dibbits Bert; Crooijmans Richard P M A; den Dunnen Johan T; Groenen Martien A M
Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome.
BMC genomics 2009;10():374.
2009: Liu Fan; Ikram M Arfan; Janssens A Cecile J W; Schuur Maaike; de Koning Inge; Isaacs Aaron; Struchalin Maksim; Uitterlinden Andre G; den Dunnen Johan T; Sleegers Kristel; Bettens Karolien; Van Broeckhoven Christine; van Swieten John; Hofman Albert; Oostra Ben A; Aulchenko Yurii S; Breteler Monique M B; van Duijn Cornelia M
A study of the SORL1 gene in Alzheimer's disease and cognitive function.
Journal of Alzheimer's disease : JAD 2009;18(1):51-64.
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.
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.
2008: Cotton Richard G H; Auerbach Arleen D; Axton Myles; Barash Carol Isaacson; Berkovic Samuel F; Brookes Anthony J; Burn John; Cutting Garry; den Dunnen Johan T; Flicek Paul; Freimer Nelson; Greenblatt Marc S; Howard Heather J; Katz Michael; Macrae Finlay A; Maglott Donna; Möslein Gabriela; Povey Sue; Ramesar Rajkumar S; Richards Carolyn S; Seminara Daniela; Smith Timothy D; Sobrido María-Jesús; Solbakk Jan Helge; Tanzi Rudolph E; Tavtigian Sean V; Taylor Graham R; Utsunomiya Joji; Watson Michael
GENETICS. The Human Variome Project.
Science (New York, N.Y.) 2008;322(5903):861-2.
2008: Ivliev Alexander E; 't Hoen Peter A C; Villerius Michel P; den Dunnen Johan T; Brandt Bernd W
Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray data.
Nucleic acids research 2008;36(Web Server issue):W327-31.
2008: Walenkamp Marie J E; de Muinck Keizer-Schrama Sabine M P F; de Mos Marianne; Kalf Margot E; van Duyvenvoorde Hermine A; Boot Annemieke M; Kant Sarina G; White Stefan J; Losekoot Monique; Den Dunnen Johan T; Karperien Marcel; Wit Jan M
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
The Journal of clinical endocrinology and metabolism 2008;93(6):2421-5.
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.
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.
2008: Kayser Manfred; Liu Fan; Janssens A Cecile J W; Rivadeneira Fernando; Lao Oscar; van Duijn Kate; Vermeulen Mark; Arp Pascal; Jhamai Mila M; van Ijcken Wilfred F J; den Dunnen Johan T; Heath Simon; Zelenika Diana; Despriet Dominiek D G; Klaver Caroline C W; Vingerling Johannes R; de Jong Paulus T V M; Hofman Albert; Aulchenko Yurii S; Uitterlinden Andre G; Oostra Ben A; van Duijn Cornelia M
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
American journal of human genetics 2008;82(2):411-23.
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.
2008: Wildeman Martin; van Ophuizen Ernest; den Dunnen Johan T; Taschner Peter E M
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.
Human mutation 2008;29(1):6-13.
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.
2008: van Roon-Mom Willeke M C; Pepers Barry A; 't Hoen Peter A C; Verwijmeren Carola A C M; den Dunnen Johan T; Dorsman Josephine C; van Ommen Gertjan B
Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease.
BMC molecular biology 2008;9():84.
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.
2008: Mons Barend; Ashburner Michael; Chichester Christine; van Mulligen Erik; Weeber Marc; den Dunnen Johan; van Ommen Gert-Jan; Musen Mark; Cockerill Matthew; Hermjakob Henning; Mons Albert; Packer Abel; Pacheco Roberto; Lewis Suzanna; Berkeley Alfred; Melton William; Barris Nickolas; Wales Jimmy; Meijssen Gerard; Moeller Erik; Roes Peter Jan; Borner Katy; Bairoch Amos
Calling on a million minds for community annotation in WikiProteins.
Genome biology 2008;9(5):R89.
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.
2008: Oliveira Jorge; Soares-Silva Isabel; Fokkema Ivo; Gonçalves Ana; Cabral Alexandra; Diogo Luísa; Galán Lucía; Guimarães António; Fineza Isabel; den Dunnen Johan T; Santos Rosário
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
Journal of human genetics 2008;53(6):565-72.
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.
2007: Boon Elles M J; Schlecht Hélène B; Martin Peter; Daniels Geoff; Vossen Rolf H A M; den Dunnen Johan T; Bakker Bert; Elles Rob
Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma.
Prenatal diagnosis 2007;27(10):932-7.
2007: van Tintelen J Peter; Tio Rene A; Kerstjens-Frederikse Wilhelmina S; van Berlo Jop H; Boven Ludolf G; Suurmeijer Albert J H; White Stefan J; den Dunnen Johan T; te Meerman Gerard J; Vos Yvonne J; van der Hout Annemarie H; Osinga Jan; van den Berg Maarten P; van Veldhuisen Dirk J; Buys Charles H C M; Hofstra Robert M W; Pinto Yigal M
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
Journal of the American College of Cardiology 2007;49(25):2430-9.
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.
2007: Huang Yanchao; Laval Steven H; van Remoortere Alexandra; Baudier Jacques; Benaud Chriselle; Anderson Louise V B; Straub Volker; Deelder Andre; Frants Rune R; den Dunnen Johan T; Bushby Kate; van der Maarel Silvère M
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007;21(3):732-42.
2007: Ogino Shuji; Gulley Margaret L; den Dunnen Johan T; Wilson Robert B;
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.
The Journal of molecular diagnostics : JMD 2007;9(1):1-6.
2007: White S J; Vissers L E L M; Geurts van Kessel A; de Menezes R X; Kalay E; Lehesjoki A E; Giordano P C; van de Vosse E; Breuning M H; Brunner H G; den Dunnen J T; Veltman J A
Variation of CNV distribution in five different ethnic populations.
Cytogenetic and genome research 2007;118(1):19-30.
2006: den Dunnen Johan T; White Stefan J
MLPA and MAPH: sensitive detection of deletions and duplications.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2006;Chapter 7():Unit 7.14.
2006: Saris Jasper J; 't Hoen Peter A C; Garrelds Ingrid M; Dekkers Dick H W; den Dunnen Johan T; Lamers Jos M J; Jan Danser A H
Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II.
Hypertension 2006;48(4):564-71.
2006: White S J; Aartsma-Rus A; Flanigan K M; Weiss R B; Kneppers A L J; Lalic T; Janson A A M; Ginjaar H B; Breuning M H; den Dunnen J T
Duplications in the DMD gene.
Human mutation 2006;27(9):938-45.
2006: Lesnik Oberstein Saskia A J; Kriek Marjolein; White Stefan J; Kalf Margot E; Szuhai Karoly; den Dunnen Johan T; Breuning Martijn H; Hennekam Raoul C M
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
American journal of human genetics 2006;79(3):562-6.
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.
2006: Verheesen Peter; Roussis Andreas; de Haard Hans J; Groot Arjan J; Stam Jord C; den Dunnen Johan T; Frants Rune R; Verkleij Arie J; Theo Verrips C; van der Maarel Silvère M
Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation.
Biochimica et biophysica acta 2006;1764(8):1307-19.
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.
2006: Kriek Marjolein; Szuhai Karoly; Kant Sarina G; White Stefan J; Dauwerse Hans; Fiegler Heike; Carter Nigel P; Knijnenburg Jeroen; den Dunnen Johan T; Tanke Hans J; Breuning Martijn H; Rosenberg Carla
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.
Human genetics 2006;120(1):77-84.
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.
2006: den Dunnen Johan T; Beggs Alan H
Multiplex PCR for identifying DMD gene deletions.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2006;Chapter 9():Unit 9.3.
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.
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.
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.
2006: White S J; den Dunnen J T
Copy number variation in the genome; the human DMD gene as an example.
Cytogenetic and genome research 2006;115(3-4):240-6.
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.
2005: Harteveld C L; Voskamp A; Phylipsen M; Akkermans N; den Dunnen J T; White S J; Giordano P C
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.
Journal of medical genetics 2005;42(12):922-31.
2005: Corthésy-Theulaz Irène; den Dunnen Johan T; Ferré Pascal; Geurts Jan M W; Müller Michael; van Belzen Nico; van Ommen Ben
Nutrigenomics: the impact of biomics technology on nutrition research.
Annals of nutrition & metabolism 2005;49(6):355-65.
2005: Lalic Tanja; Vossen Rolf H A M; Coffa Jordy; Schouten Jan P; Guc-Scekic Marija; Radivojevic Danijela; Djurisic Marina; Breuning Martÿn H; White Stefan J; den Dunnen Johan T
Deletion and duplication screening in the DMD gene using MLPA.
European journal of human genetics : EJHG 2005;13(11):1231-4.
2005: Fokkema Ivo F A C; den Dunnen Johan T; Taschner Peter E M
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.
Human mutation 2005;26(2):63-8.
2005: White Stefan J; Uitte de Willige Shirley; Verbove Dennis; Politano Luisa; Ginjaar Ieke; Breuning Martijn H; den Dunnen Johan T
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.
Human mutation 2005;26(1):59.
2005: Huang Yanchao; Verheesen Peter; Roussis Andreas; Frankhuizen Wendy; Ginjaar Ieke; Haldane Faye; Laval Steve; Anderson Louise V B; Verrips Theo; Frants Rune R; de Haard Hans; Bushby Kate; den Dunnen Johan; van der Maarel Silvère M
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.
European journal of human genetics : EJHG 2005;13(6):721-30.
2005: Beiboer Sigrid H W; Wieringa-Jelsma Tinka; Maaskant-Van Wijk Petra A; van der Schoot C Ellen; van Zwieten Rob; Roos Dirk; den Dunnen Johan T; de Haas Masja
Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization.
Transfusion 2005;45(5):667-79.
2005: Dent K M; Dunn D M; von Niederhausern A C; Aoyagi A T; Kerr L; Bromberg M B; Hart K J; Tuohy T; White S; den Dunnen J T; Weiss R B; Flanigan K M
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.
American journal of medical genetics. Part A 2005;134(3):295-8.
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.
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.
2004: Vossen Rolf; den Dunnen Johan T
Protein truncation test.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2004;Chapter 9():Unit9.11.
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.
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.
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.
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.
2004: Fredman David; White Stefan J; Potter Susanna; Eichler Evan E; Den Dunnen Johan T; Brookes Anthony J
Complex SNP-related sequence variation in segmental genome duplications.
Nature genetics 2004;36(8):861-6.
2004: White Stefan J; Vink Geraldine R; Kriek Marjolein; Wuyts Wim; Schouten Jan; Bakker Bert; Breuning Martijn H; den Dunnen Johan T
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.
Human mutation 2004;24(1):86-92.
2004: van Moorsel Coline H M; van Wijngaarden Erwin E; Fokkema Ivo F A C; den Dunnen Johan T; Roos Dirk; van Zwieten Rob; Giordano Piero C; Harteveld Cornelis L
beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.
European journal of human genetics : EJHG 2004;12(7):567-73.
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.
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.
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.
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.
2004: White Stefan J; Breuning Martijn H; den Dunnen Johan T
Detecting copy number changes in genomic DNA: MAPH and MLPA.
Methods in cell biology 2004;75():751-68.
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.
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.
2003: den Dunnen Johan T; Paalman Mark H
Standardizing mutation nomenclature: why bother?
Human mutation 2003;22(3):181-2.
2003: den Dunnen Johan T; Antonarakis Stylianos E
Mutation nomenclature.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2003;Chapter 7():Unit 7.13.
2003: van Koningsbruggen S; de Haard H; de Kievit P; Dirks R W; van Remoortere A; Groot A J; van Engelen B G M; den Dunnen J T; Verrips C T; Frants R R; van der Maarel S M
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy.
Journal of immunological methods 2003;279(1-2):149-61.
2003: van Essen Anthonie J; Mulder Inge M; van der Vlies Pieter; van der Hout Annemarie H; Buys Charles H C M; Hofstra Robert M W; den Dunnen Johan T
Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.
American journal of medical genetics. Part A 2003;118A(3):296-8.
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.
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.
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.
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.
2002: Sterrenburg Ellen; Turk Rolf; Boer Judith M; van Ommen Gertjan B; den Dunnen Johan T
A common reference for cDNA microarray hybridizations.
Nucleic acids research 2002;30(21):e116.
2002: Boer Judith M; de Meijer Emile J; Mank Eveline M; van Ommen Gertjan B; den Dunnen Johan T
Expression profiling in stably regenerating skeletal muscle of dystrophin-deficient mdx mice.
Neuromuscular disorders : NMD 2002;12 Suppl 1():S118-24.
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.
2002: Gussoni Emanuela; Bennett Richard R; Muskiewicz Kristina R; Meyerrose Todd; Nolta Jan A; Gilgoff Irene; Stein James; Chan Yiu-Mo; Lidov Hart G; Bönnemann Carsten G; Von Moers Arpad; Morris Glenn E; Den Dunnen Johan T; Chamberlain Jeffrey S; Kunkel Louis M; Weinberg Kenneth
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.
The Journal of clinical investigation 2002;110(6):807-14.
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.
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.
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.
2001: den Dunnen J T; Antonarakis S E
Nomenclature for the description of human sequence variations.
Human genetics 2001;109(1):121-4.
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.
2001: Bennett R R; den Dunnen J; O'Brien K F; Darras B T; Kunkel L M
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
BMC genetics 2001;2():17.
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.
2000: Ginjaar I B; Kneppers A L; v d Meulen J D; Anderson L V; Bremmer-Bout M; van Deutekom J C; Weegenaar J; den Dunnen J T; Bakker E
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
European journal of human genetics : EJHG 2000;8(10):793-6.
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: Spieker N; Beitsma M; van Sluis P; Roobeek I; den Dunnen J T; Speleman F; Caron H; Versteeg R
An integrated 5-Mb physical, genetic, and radiation hybrid map of a 1p36.1 region implicated in neuroblastoma pathogenesis.
Genes, chromosomes & cancer 2000;27(2):143-52.
2000: den Dunnen J T; Antonarakis S E
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.
Human mutation 2000;15(1):7-12.
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.
1999: de Koning Gans P A; Ginjaar I; Bakker E; Yates J R; den Dunnen J T
A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations.
Neuromuscular disorders : NMD 1999;9(4):247-50.
1999: Montini E; Buchner G; Spalluto C; Andolfi G; Caruso A; den Dunnen J T; Trump D; Rocchi M; Ballabio A; Franco B
Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22.
Genomics 1999;58(1):65-72.
1999: Theuns J; Cruts M; Del-Favero J; Goossens D; Dauwerse H; Wehnert A; den Dunnen J T; Van Broeckhoven C
Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(4):410-4.
1999: Roest P A; Bakker E; Fallaux F J; Verellen-Dumoulin C; Murry C E; den Dunnen J T
New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector.
Lancet 1999;353(9154):727-8.
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.
1999: Den Dunnen J T; Van Ommen G J
The protein truncation test: A review.
Human mutation 1999;14(2):95-102.
1999: den Dunnen J T
Cosmid-based exon trapping.
Methods in enzymology 1999;303():100-10.
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.
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.
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.
1997: Montini E; Rugarli E I; Van de Vosse E; Andolfi G; Mariani M; Puca A A; Consalez G G; den Dunnen J T; Ballabio A; Franco B
A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin.
Human molecular genetics 1997;6(7):1137-45.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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: 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.
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.
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.
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.
1994: Datson N A; Duyk G M; Van Ommen J B; Den Dunnen J T
Specific isolation of 3'-terminal exons of human genes by exon trapping.
Nucleic acids research 1994;22(20):4148-53.
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.
1994: van der Luijt R; Khan P M; Vasen H; van Leeuwen C; Tops C; Roest P; den Dunnen J; Fodde R
Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test.
Genomics 1994;20(1):1-4.
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.
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.
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.
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.
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.
1993: Nicholson L V; Johnson M A; Bushby K M; Gardner-Medwin D; Curtis A; Ginjaar I B; den Dunnen J T; Welch J L; Butler T J; Bakker E
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.
Journal of medical genetics 1993;30(9):745-51.
1993: Nicholson L V; Johnson M A; Bushby K M; Gardner-Medwin D; Curtis A; Ginjaar I B; den Dunnen J T; Welch J L; Butler T J; Bakker E
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
Journal of medical genetics 1993;30(9):737-44.
1993: Nicholson L V; Johnson M A; Bushby K M; Gardner-Medwin D; Curtis A; Ginjaar I B; den Dunnen J T; Welch J L; Butler T J; Bakker E
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.
Journal of medical genetics 1993;30(9):728-36.
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.
1993: Skraastad M I; de Rooij K E; de Koning Gans P A; Verwest A; Vegter-van der Vlis M; Bakker E; den Dunnen J T; van Ommen G B
Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses.
Genomics 1993;16(3):599-604.
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: 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: 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: 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: Den Dunnen J T; Grootscholten P M; Dauwerse J G; Walker A P; Monaco A P; Butler R; Anand R; Coffey A J; Bentley D R; Steensma H Y
Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination.
Human molecular genetics 1992;1(1):19-28.
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: Blonden L A; Grootscholten P M; den Dunnen J T; Bakker E; Abbs S; Bobrow M; Boehm C; van Broeckhoven C; Baumbach L; Chamberlain J
242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.
Genomics 1991;10(3):631-9.
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: 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: 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: 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: 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: Wapenaar M C; Kievits T; Hart K A; Abbs S; Blonden L A; den Dunnen J T; Grootscholten P M; Bakker E; Verellen-Dumoulin C; Bobrow M
A deletion hot spot in the Duchenne muscular dystrophy gene.
Genomics 1988;2(2):101-8.
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: 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.

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