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1

Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule

Annemieke Aartsma-Rus, Judith C. T. Van Deutekom, Ivo F. Fokkema, Gert-Jan B. Van Ommen, Johan T. Den Dunnen

Journal:

Year:

2006

Language:

english

File:

PDF, 810 KB

english, 2006

2

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

Annemieke Aartsma-Rus, Ivo Fokkema, Jan Verschuuren, Ieke Ginjaar, Judith van Deutekom, Gert-Jan van Ommen, Johan T. den Dunnen

Journal:

Year:

2009

Language:

english

File:

PDF, 176 KB

english, 2009

3

Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Mattie Bremmer-Bout, Anneke A.M Janson, Johan T den Dunnen, Gert-Jan B van Ommen, Judith C.T van Deutekom

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

4

Preclinical PK and PD Studies on 2′-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model

Heemskerk, Hans, de Winter, Christa, van Kuik, Petra, Heuvelmans, Niki, Sabatelli, Patrizia, Rimessi, Paola, Braghetta, Paola, van Ommen, Gert-Jan B, de Kimpe, Sjef, Ferlini, Alessandra, Aartsma-Rus,

Journal:

Molecular Therapy

Year:

2010

Language:

english

File:

PDF, 481 KB

english, 2010

5

Functional Analysis of 114 Exon-Internal AONs for Targeted DMD Exon Skipping: Indication for Steric Hindrance of SR Protein Binding Sites

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.

Journal:

Oligonucleotides

Year:

2005

Language:

english

File:

PDF, 181 KB

english, 2005

6

Different localization of dystrophin in developing and adult human skeletal muscle

Andy Wessels, Ieke B. Ginjaar, PhD Antoon F. M. Moorman, PhD Gert-Jan B. Van Ommen

Journal:

Year:

1991

Language:

english

File:

PDF, 851 KB

english, 1991

7

Development of Antisense-Mediated Exon Skipping as a Treatment for Duchenne Muscular Dystrophy

Hans Heemskerk, Christa L. de Winter, Gert-Jan B. van Ommen, Judith C.T. van Deutekom, Annemieke Aartsma-Rus

Journal:

Annals of the New York Academy of Sciences

Year:

2009

Language:

english

File:

PDF, 359 KB

english, 2009

8

Exon Mapping by Fiber-FISH or LR-PCR

Ralph J. Florijn, Frans M.van de Ruke, Hans Vrolijk, Lau A.J. Blonden, Marten H. Hofker, Johan T.den Dunnen, Hans J. Tanke, Gert-Jan B.van Ommen, Anton K. Raap

Journal:

Year:

1996

Language:

english

File:

PDF, 153 KB

english, 1996

9

Large-scale gene expression analysis of human skeletal myoblast differentiation

Ellen Sterrenburg, Rolf Turk, Peter A.C. 't Hoen, Judith C.T. van Deutekom, Judith M. Boer, Gert-Jan B. van Ommen, Johan T. den Dunnen

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 375 KB

english, 2004

10

Activation of the c-myc Oncogene in a Precursor-B-Cell Blast Crisis of Follicular Lymphoma, Presenting as Composite Lymphoma

de Jong, Daphne, Voetdijk, Betsie M.H., Beverstock, Geoffrey C., van Ommen, Gert Jan B., Willemze, Roel, Kluin, Philip M.

Journal:

Boston Medical and Surgical Journal

Year:

1988

Language:

english

File:

PDF, 15.50 MB

english, 1988

11

Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease

Hensman Moss, Davina J., Flower, Michael D., Lo, Kitty K., Miller, James R. C., van Ommen, Gert-Jan B., ’t Hoen, Peter A. C., Stone, Timothy C., Guinee, Amelia, Langbehn, Douglas R., Jones, Lesley, Pl

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 950 KB

english, 2017

12

Meeting report: the Human Genome Meeting (HGM) 2019 in Seoul, Korea

Solano, Angela, Novelli, Giuseppe, Baghat, Shruti, Carnici, Piero, van Ommen, Gert-Jan, Reichardt, Juergen K. V.

Journal:

Year:

2019

Language:

english

File:

PDF, 1.27 MB

english, 2019

13

Prenatal diagnosis of trisomy 13 on fetal cells obtained from maternal blood after minor enrichment

Jan C. Oosterwijk, Wilma E. Mesker, Maria C. M. Ouwerkerk-Van Velzen, Cecile F. H. M. Knepflé, Karien C. Wiesmeijer, Geoffrey C. Beverstock, Gert-Jan B. Van Ommen, Hans J. Tanke, Humphrey H. H. Kanhai

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 126 KB

english, 1998

14

Two-colour immunocytochemical staining of gamma (γ) and epsilon (ϵ) type haemoglobin in fetal red cells

Wilma E. Mesker, Maria C. M. Ouwerkerk-V Velzen, Jan C. Oosterwijk, Luigi F. Bernini, Mitchell S. Golbus, Humphrey H. H. Kanhai, Gert Jan B. Van Ommen, Hans J. Tanke

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 260 KB

english, 1998

15

Fetal cell detection in maternal blood: A study in 236 samples using erythroblast morphology, DAB and Hbf staining, and FISH analysis

Jan C. Oosterwijk, Wilma E. Mesker, Maria C. M. Ouwerkerk-van Velzen, Cecile F. H. M. Knepflé, Karien C. Wiesmeijer, Geoffrey C. Beverstock, Gert-Jan B. van Ommen, Humphrey H. H. Kanhai, Hans J. Tanke

Journal:

Cytometry Part A

Year:

1998

Language:

english

File:

PDF, 117 KB

english, 1998

16

The protein truncation test: A review

Johan T. Den Dunnen, Gert-Jan B. Van Ommen

Journal:

Year:

1999

Language:

english

File:

PDF, 258 KB

english, 1999

17

Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers

Dr. Mette I. Skraastad, Aart Verwest, Egbert Bakker, Maria Vegter-van der Vlis, Inge van Leeuwen-Cornelisse, Raymund A. C. Roos, Peter L. Pearson, Gert-Jan B. van Ommen

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 688 KB

english, 1991

18

DNA-Testing for Huntington's disease in The Netherlands: A retrospective study on psychosocial effects

Aad Tibben, Maria Vegter-Van Der Vlis, Mette I. Skraastad, Petra G. Frets, Jacques J. P. Van Der Kamp, Martinus F. Niermeijer, Gert-Jan B. Van Ommen, Raymund A. C. Roos, Harry G. M. Rooijmans, Dick St

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 726 KB

english, 1992

19

Presymptomatic DNA-testing for Huntington disease: Pretest attitudes and expectations of applicants and their partners in the Dutch program

Aad Tibben, Petra G. Frets, Jacques J. P. van de Kamp, Martinus F. Niermeijer, Maria Vegter-van der Vlis, Raymund A. C. Roos, Gert-Jan B. van Ommen, Hugo J. Duivenvoorden, Frans Verhage

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 819 KB

english, 1993

20

On attitudes and appreciation 6 months after predictive DNA testing for huntington disease in the Dutch program

Aad Tibben, Petra G. Frets, Jacques J. P. van de Kamp, Martinus F. Niermeijer, Maria Vegtervan der Vlis, Raymund A. C. Roos, Harry G. M. Rooymans, Gert-Jan B. van Ommen, Frans Verhage

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 997 KB

english, 1993

21

Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH

Marjolein Kriek, Jeroen Knijnenburg, Stefan J. White, Carla Rosenberg, Johan T. den Dunnen, Gert-Jan B. van Ommen, Hans J. Tanke, Martijn H. Breuning, Karoly Szuhai

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 97 KB

english, 2007

22

An unusual variant of Becker muscular dystrophy

Marianne De Visser, Egbert Bakker, Joep C. Defesche, Piet A. Bolhuis, Gert Jan Van Ommen

Journal:

Annals of Neurology

Year:

1990

Language:

english

File:

PDF, 710 KB

english, 1990

23

Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene

Peter Hohenstein, Lia Molenaar, Joyce Elsinga, Hans Morreau, Heleen van der Klift, Ada Struijk, Shantie Jagmohan-Changur, Ron Smits, Henk van Kranen, Gert-Jan B. van Ommen, Cees Cornelisse, Peter Devi

Journal:

Genes, Chromosomes and Cancer

Year:

2003

Language:

english

File:

PDF, 454 KB

english, 2003

24

Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene

Peter E.M. Taschner, Jeroen C. Jansen, Bora E. Baysal, Anne Bosch, Efraim H. Rosenberg, Annette H.J.T. Bröcker-Vriends, Andel G.L. van der Mey, Gert-Jan B. van Ommen, Cees J. Cornelisse, Peter Devilee

Journal:

Genes, Chromosomes and Cancer

Year:

2001

Language:

english

File:

PDF, 108 KB

english, 2001

25

Combined association and linkage analysis applied to the APOE locus

Marian Beekman, Daniëlle Posthuma, Bastiaan T. Heijmans, Nico Lakenberg, H. Eka D. Suchiman, Harold Snieder, Peter de Knijff, Rune R. Frants, Gert Jan B. van Ommen, Cornelis Kluft, George P. Vogler, P

Journal:

Genetic Epidemiology

Year:

2004

Language:

english

File:

PDF, 169 KB

english, 2004

26

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

Robert M.W. Hofstra, Inge M. Mulder, Rolf Vossen, Pia A. M. de Koning-Gans, Marian Kraak, Ieke B. Ginjaar, Annemarie H. van der Hout, Egbert Bakker, Charles H.C.M. Buys, Gert-Jan B. van Ommen, Anthoni

Journal:

Year:

2004

Language:

english

File:

PDF, 224 KB

english, 2004

27

Dystrophin expression in the developing conduction system of the human heart

Dr. Ieke B. Ginjaar, Szabolcs Virágh, Marry W. M. Markman, Gert-Jan B. Van Ommen, Antoon F. M. Moorman

Journal:

Microscopy Research and Technique

Year:

1995

Language:

english

File:

PDF, 1.42 MB

english, 1995

28

In vivo comparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

Hans A. Heemskerk, Christa L. de Winter, Sjef J. de Kimpe, Petra van Kuik-Romeijn, Niki Heuvelmans, Gerard J. Platenburg, Gert-Jan B. van Ommen, Judith C. T. van Deutekom, Annemieke Aartsma-Rus

Journal:

The Journal of Gene Medicine

Year:

2009

Language:

english

File:

PDF, 409 KB

english, 2009

29

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Anneke AM Janson, Gert-Jan B van Ommen, Judith CT van Deutekom

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 1.29 MB

english, 2007

30

Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy

Laura van Vliet, Christa L de Winter, Judith CT van Deutekom, Gert-Jan B van Ommen, Annemieke Aartsma-Rus

Journal:

BMC Medical Genetics

Year:

2008

Language:

english

File:

PDF, 872 KB

english, 2008

31

Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection

Barry A Pepers, Menno H Schut, Rolf HAM Vossen, Gert-Jan B van Ommen, Johan T den Dunnen, Willeke MC van Roon-Mom

Journal:

BMC Biotechnology

Year:

2009

Language:

english

File:

PDF, 1.78 MB

english, 2009

32

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy

Dwi U Kemaladewi, Willem MH Hoogaars, Sandra H van Heiningen, Samuel Terlouw, David JJ de Gorter, Johan T den Dunnen, Gert Jan B van Ommen, Annemieke Aartsma-Rus, Peter ten Dijke, Peter AC’t Hoen

Journal:

BMC Medical Genomics

Year:

2011

Language:

english

File:

PDF, 1.18 MB

english, 2011

33

Serum protein profiling in mice: Identification of Factor XIIIa as a potential biomarker for muscular dystrophy

Sharmini Alagaratnam, Bart J. A. Mertens, Johannes C. Dalebout, André M. Deelder, Gert-Jan B. van Ommen, Johan T. den Dunnen, Peter A. C. 't Hoen

Journal:

Year:

2008

Language:

english

File:

PDF, 527 KB

english, 2008

34

In silico discovery and experimental validation of new protein–protein interactions

Herman H. H. B. M. van Haagen, Peter A. C. 't Hoen, Antoine de Morrée, Willeke M. C. van Roon-Mom, Dorien J. M. Peters, Marco Roos, Barend Mons, Gert-Jan van Ommen, Martijn J. Schuemie

Journal:

Year:

2011

Language:

english

File:

PDF, 186 KB

english, 2011

35

High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes

Esther Van de Vosse, Paola Van der Bent, Joris J. Heus, Gert- Jan B. Van Ommen, Johan T. Den Dunnen

Journal:

Mammalian Genome

Year:

1997

Language:

english

File:

PDF, 1.45 MB

english, 1997

36

Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period

E. M. Hoogerwaard, Willem G. de Voogt, Arthur A. M. Wilde, Poll A. van der Wouw, Egbert Bakker, Gert-Jan B. van Ommen, Marianne de Visser

Journal:

Journal of Neurology

Year:

1997

Language:

english

File:

PDF, 42 KB

english, 1997

37

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

J. C. Oosterwijk, Gabriela Richard, Michiel J. R. van der Wielen, E. van de Vosse, Wolfgang Harth, Lodewijk A. Sandkuijl, Egbert Bakker, Gert-Jan B. van Ommen

Journal:

Year:

1997

Language:

english

File:

PDF, 68 KB

english, 1997

38

New insights in gene-derived therapy: the example of Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Johan T. den Dunnen, Gert-Jan B van Ommen

Journal:

Annals of the New York Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 277 KB

english, 2010

39

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Petrif, Fred, Giles, Rachel H., Dauwerse, Hans G., Saris, Jasper J., Hennekam, Raoul C. M., Masuno, Mitsuo, Tommerup, Niels, van Ommen, Gert-Jan B., Goodman, Richard H., Peters, Dorien J. M.

Journal:

Year:

1995

File:

PDF, 996 KB

1995

40

Reply to Nothnagel et al

van Ommen, Gert Jan B

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 36 KB

english, 2008

41

Progress in therapeutic antisense applications for neuromuscular disorders

Aartsma-Rus, Annemieke, van Ommen, Gert-Jan B

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 510 KB

english, 2009

42

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus, Annemieke, Singh, Kavita HK, Fokkema, Ivo FAC, Ginjaar, Ieke B, van Ommen, Gert-Jan, den Dunnen, Johan T, van der Maarel, Silvère M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 153 KB

english, 2010

43

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus, Annemieke, Singh, Kavita H K, Fokkema, Ivo F A C, Ginjaar, Ieke B, van Ommen, Gert-Jan, Dunnen, Johan T den, van der Maarel, Silvère M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 413 KB

english, 2010

44

Leena Palotie-Peltonen, 1952–2010, visionary and role model

van Ommen, Gert-Jan

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 135 KB

english, 2010

45

Frequency of new copy number variation in humans

van Ommen, Gert-Jan B

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 78 KB

english, 2005

46

Making ends meet

van Ommen, Gert-Jan B.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 240 KB

1994

47

A high resolution deletion map of human chromosome Xp22

Schaefer, Laura, Ferrero, Giovanni B., Grillo, Alessandra, Bassi, Maria T., Roth, Elizabeth J., Wapenaar, Martin C., van Ommen, Gert-Jan B., Mohandas, Thuluvancheri K., Rocchi, Mariano, Zoghbi, Huda Y

Journal:

Nature Genetics

Year:

1993

File:

PDF, 1.01 MB

1993

48

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

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

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 200 KB

english, 2003

49

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

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.

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 130 KB

english, 2002

50

A foundation for limb-girdle muscular dystrophy

Ommen, Gert-Jan Van

Journal:

Nature Medicine

Year:

1995

File:

PDF, 603 KB

1995

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