G. V. Ommen

发表

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

C. van Broeckhoven, W. Hul, E. Bakker, 1991, American journal of human genetics.

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

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

G. van Ommen, L. Sandkuijl, J. Oosterwijk, 1997, Human Genetics.

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.

K. Bushby, J. D. den Dunnen, M. Johnson, 1992, Journal of medical genetics.

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

C. Disteche, U. Francke, H. Ochs, 1985, American journal of human genetics.

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

A. Haeringen, E. Bakker, S. Kant, 1997, Journal of medical genetics.

Prenatal diagnosis of Duchenne muscular dystrophy: A three-year experience in a rapidly evolving field

P. Pearson, H. Veenema, P. Grootscholten, 1989, Journal of Inherited Metabolic Disease.

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

T. Cremer, T. Ried, M. Cremer, 2004, Human Genetics.

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.

G. van Ommen, J. D. den Dunnen, M. Losekoot, 1993, Journal of medical genetics.

High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes.

F. Baas, H. Vrolijk, J. Wiegant, 1995, Human molecular genetics.

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

A. Essen, E. Bakker, H. Scheffer, 1997, Journal of medical genetics.

Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies.

J. Kaplan, J. Chelly, G. van Ommen, 1989, Genomics.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

E. Mariman, H. Himmelbauer, R. Stallings, 1993, American journal of human genetics.

Germline mosaicism and Duchenne muscular dystrophy mutations

C. Broeckhoven, P. Pearson, W. Hul, 1987, Nature.