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A novel mutation and novel features in Nijmegen breakage syndrome

Journal of medical genetics, 2001-02, Vol.38 (2), p.113-117

2001

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Ring chromosome 9 with a 9p22.3-p24.3 duplication

European journal of pediatrics, 1999-10, Vol.158 (10), p.791-793

1999

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Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome

Journal of medical genetics, 1988-03, Vol.25 (3), p.173-180

1988

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Abnormal methylation does not prevent X inactivation in ICF patients

Cytogenetic and genome research, 1999-01, Vol.84 (3-4), p.245-252

1999

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A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1

Journal of medical genetics, 1992-04, Vol.29 (4), p.253-255

1992

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XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family

American journal of medical genetics. Part A, 2005-10, Vol.138A (3), p.241-246

2005

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Molecular analysis of a human Y;1 translocation in an azoospermic male

Cytogenetic and genome research, 1994-01, Vol.65 (4), p.256-260

1994

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Chromosome instability and nibrin protein variants in NBS heterozygotes

European journal of human genetics : EJHG, 2003-04, Vol.11 (4), p.297-303

2003

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Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

Journal of medical genetics, 1996-05, Vol.33 (5), p.366-370

1996

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Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts

Journal of medical genetics, 1989-07, Vol.26 (7), p.452-456

1989

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Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

Human genetics, 1982, Vol.61 (4), p.364-368

1982

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Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

Human genetics, 1980-01, Vol.54 (2), p.205-206

1980

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An analysis of Xq deletions

Human genetics, 1996-03, Vol.97 (3), p.375-381

1996

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Identification of normal and abnormal chromosomes in tumor cells

Cytogenetic and genome research, 1973, Vol.12 (1), p.8-16

1973

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Familial XX true hermaphroditism and the H-Y antigen

Human genetics, 1979-01, Vol.48 (1), p.45-52

1979

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Presumptive X -Autosome Translocation in a Cow : Preferential Inactivation of the Normal X Chromosome

Nature (London), 1968-04, Vol.218 (5137), p.183-184

1968

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The chromosomes of the chamois (tribe Rupicaprini Simpson)

Cytogenetic and genome research, 1970, Vol.9 (1), p.1-8

1970

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Heterochromatin in preimplantation mouse embryos

Experimental cell research, 1969-06, Vol.55 (3), p.427-430

1969

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Karyotyping clonal evolution in a cystic adenoma of the ovary

The Lancet (British edition), 1968-03, Vol.1 (7543), p.613-614

1968

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Timing of DNA replication of translocated Y chromosome sections in somatic cells of Drosophila melanogaster

Chromosoma, 1969-01, Vol.27 (4), p.395-408

1969

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BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities

Cytogenetic and genome research, 1978-01, Vol.20 (1-6), p.59-69

1978

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Specific instability of the paracentric region of chromosome number 9 in a normal woman and her mongoloid son

Annales de génétique, 1971-06, Vol.14 (2), p.149

1971

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Chronology of DNA replication in the sex chromosomes of the reindeer (Rangifer tarandus L.)

Cytogenetic and genome research, 1968-01, Vol.7 (3), p.196-211

1968

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48,XXXX-49,XXXXX mosaic: asynchronies among the late-replicating X chromosomes

Cytogenetic and genome research, 1968, Vol.7 (4), p.249-259

1968

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Timing of sex chromosome replication in somatic and germ-line cells of the mouse and the rat

Cytogenetic and genome research, 1967-01, Vol.6 (1), p.51-66

1967

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A novel mutation and novel features in Nijmegen breakage syndrome

Ring chromosome 9 with a 9p22.3-p24.3 duplication

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome

Abnormal methylation does not prevent X inactivation in ICF patients

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1

XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family

Molecular analysis of a human Y;1 translocation in an azoospermic male

Chromosome instability and nibrin protein variants in NBS heterozygotes

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

An analysis of Xq deletions

Identification of normal and abnormal chromosomes in tumor cells

Familial XX true hermaphroditism and the H-Y antigen

Presumptive X -Autosome Translocation in a Cow : Preferential Inactivation of the Normal X Chromosome

The chromosomes of the chamois (tribe Rupicaprini Simpson)

Heterochromatin in preimplantation mouse embryos

Karyotyping clonal evolution in a cystic adenoma of the ovary

Timing of DNA replication of translocated Y chromosome sections in somatic cells of Drosophila melanogaster

BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities

Specific instability of the paracentric region of chromosome number 9 in a normal woman and her mongoloid son

Chronology of DNA replication in the sex chromosomes of the reindeer (Rangifer tarandus L.)

48,XXXX-49,XXXXX mosaic: asynchronies among the late-replicating X chromosomes

Timing of sex chromosome replication in somatic and germ-line cells of the mouse and the rat

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