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Genetic causes of Parkinson’s disease: extending the pathway

Journal of neural transmission. Supplementum, 2006 (70), p.181-189

2006

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Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

European journal of human genetics : EJHG, 2000-07, Vol.8 (7), p.519-526

2000

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High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome

American journal of medical genetics, 1997-09, Vol.71 (4), p.453-457

1997

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Genetic diagnosis, classification and clinical hereditary ataxia disease entities

Fortschritte der Neurologie, Psychiatrie, 1997-02, Vol.65 (2), p.79-89

1997

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Human Txk: genomic organization, structure and contiguous physical linkage with the Tec gene

Oncogene, 1996-02, Vol.12 (4), p.937-942

1996

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Report of the Fourth International Workshop on Human Chromosome 4 Mapping 1996

Cytogenetic and genome research, 1996, Vol.74 (1-2), p.57-69

1996

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Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4

American journal of human genetics, 1995-11, Vol.57 (5), p.1137-1142

1995

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Molecular genetics of inherited diseases involving human chromosome 4

Časopis lékařů českých, 1995-02, Vol.134 (4), p.108

1995

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Toward the complete genomic map and molecular pathology of human chromosome 4

Human genetics, 1994-07, Vol.94 (1), p.1-18

1994

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Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16

Genomics (San Diego, Calif.), 1994-01, Vol.19 (2), p.298-302

1994

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Chromosomal assignment of the human smg GDP dissociation stimulator gene to human chromosome 4q21-q25

Human genetics, 1993-12, Vol.92 (6), p.629-630

1993

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Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease

Nature genetics, 1992-11, Vol.2 (3), p.216-222

1992

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Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3

Nucleic acids research, 1991-11, Vol.19 (22), p.6263-6268

1991

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A polymorphic DNA marker at the D8S131 locus

Nucleic acids research, 1991-04, Vol.19 (7), p.1725-1725

1991

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A polymorphic DNA marker at the D10S106 locus

Nucleic acids research, 1991-04, Vol.19 (7), p.1725-1725

1991

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Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP

Clinical genetics, 1986-06, Vol.29 (6), p.491-495

1986

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Genetic causes of Parkinson’s disease: extending the pathway

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome

Genetic diagnosis, classification and clinical hereditary ataxia disease entities

Human Txk: genomic organization, structure and contiguous physical linkage with the Tec gene

Report of the Fourth International Workshop on Human Chromosome 4 Mapping 1996

Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4

Molecular genetics of inherited diseases involving human chromosome 4

Toward the complete genomic map and molecular pathology of human chromosome 4

Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16

Chromosomal assignment of the human smg GDP dissociation stimulator gene to human chromosome 4q21-q25

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease

Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3

A polymorphic DNA marker at the D8S131 locus

A polymorphic DNA marker at the D10S106 locus

Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP

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