P. Grootscholten

发表

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

C. van Broeckhoven, J. D. den Dunnen, M. Wapenaar, 1989, American journal of human genetics.

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

J. Fock, A. Essen, P. Rump, 2005, Neurogenetics.

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

C. van Broeckhoven, J. D. den Dunnen, P. Pearson, 1989, Journal of medical genetics.

Prenatal Prediction of Spinal Muscular Atrophy

J. Osinga, H. Scheffer, C. Buys, 1996, European journal of human genetics : EJHG.

A Provisional Transcript Map of the Spinal Muscular Atrophy (SMA) Critical Region

J. Osinga, J. T. Dunnen, H. Scheffer, 1995, European journal of human genetics : EJHG.

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.

J. D. den Dunnen, H. Scheffer, C. Brahe, 1996, American journal of human genetics.

Familial X‐linked myalgia and cramps

K. Fischbeck, S. Gospe, M. Scott, 1989, Neurology.

Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination.

H. Y. Steensma, A. Monaco, D. Bentley, 1992, Human molecular genetics.

Expression of the Human Dp 71 (Apo-Dystrophin-1) Gene from a 760-kb DMD-YAC Transferred to Mouse Cells

J. T. Dunnen, F. Hogervorst, J. Heikoop, 1995, European journal of human genetics : EJHG.

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

J. D. den Dunnen, M. Wapenaar, L. Blonden, 1989, Nucleic acids research.

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

H. Scheffer, C. Buys, M. de Visser, 1995, American journal of human genetics.

242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.

C. van Broeckhoven, J. D. den Dunnen, M. Bobrow, 1991, Genomics.

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

G. Ommen, P. Pearson, E. Bakker, 1989, Journal of Inherited Metabolic Disease.

A deletion hot spot in the Duchenne muscular dystrophy gene.

J. D. den Dunnen, M. Wapenaar, M. Bobrow, 1988, Genomics.

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

J. Osinga, H. Scheffer, C. Buys, 1995, The Lancet.

Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene.

J. D. den Dunnen, G. V. van Ommen, G. van Ommen, 1992, Differentiation; research in biological diversity.

The physical map of the human RET proto-oncogene.

R. Hofstra, B. Pasini, G. Patrone, 1995, Oncogene.

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.