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A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

Prenatal diagnosis, 2004-05, Vol.24 (5), p.384-388

2004

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Nature genetics, 2003-04, Vol.33 (4), p.487-491

2003

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Patterns of exon deletions in Duchenne and Becker muscular dystrophy

Human genetics, 1988-10, Vol.80 (2), p.152-156

1988

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Physical mapping distal to the DMD locus

Genomics (San Diego, Calif.), 1990-09, Vol.8 (1), p.106-112

1990

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Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients

Nucleic acids research, 1987-03, Vol.15 (5), p.2167-2174

1987

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Localisation of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping

Nucleic acids research, 1988-02, Vol.16 (4), p.1305-1317

1988

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The Molecular Genetics of Human Monogenic Diseases

Biotechnology & genetic engineering reviews, 1985-01, Vol.3 (1), p.275-310

1985

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Molecular analysis of human X-linked diseases

Cold Spring Harbor Symposia on Quantitative Biology, 1986, Vol.51 Pt 1, p.337-343

1986

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Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

American journal of medical genetics, 1988-03, Vol.29 (3), p.557-564

1988

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Molecular analysis and diagnosis of Duchenne muscular dystrophy

Journal of the Royal College of Physicians of London, 1988-04, Vol.22 (2), p.65

1988

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Molecular analysis of X-linked diseases

Annals of clinical research, 1986, Vol.18 (5-6), p.231

1986

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Molecular analysis of muscular dystrophy

Journal of muscle research and cell motility, 1988-02, Vol.9 (1), p.1-8

1988

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Molecular analysis of muscular dystrophy

Journal of muscle research and cell motility, 1988, Vol.9 (2), p.1-8

1988

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Neural cell recognition molecule L1: relating biological complexity to human disease mutations

Human molecular genetics, 2000-04, Vol.9 (6), p.879-886

2000

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Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

Annals of oncology, 2022-12, Vol.33 (12), p.1318-1327

2022

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BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

British journal of cancer, 2012-03, Vol.106 (6), p.1234-1238

2012

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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

Nature genetics, 1994-07, Vol.7 (3), p.402-407

1994

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Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders

The EMBO journal, 1996-11, Vol.15 (22), p.6050-6059

1996

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Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Journal of medical genetics, 2010-08, Vol.47 (8), p.513-524

2010

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Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

American journal of human genetics, 2001-12, Vol.69 (6), p.1210-1217

2001

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Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities

The EMBO journal, 1999-09, Vol.18 (17), p.4744-4753

1999

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A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Patterns of exon deletions in Duchenne and Becker muscular dystrophy

Physical mapping distal to the DMD locus

Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients

Localisation of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping

The Molecular Genetics of Human Monogenic Diseases

Molecular analysis of human X-linked diseases

Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

Molecular analysis and diagnosis of Duchenne muscular dystrophy

Molecular analysis of X-linked diseases

Molecular analysis of muscular dystrophy

Molecular analysis of muscular dystrophy

Neural cell recognition molecule L1: relating biological complexity to human disease mutations

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Multiple loci on 8q24 associated with prostate cancer susceptibility

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

Gene-gene interactions in breast cancer susceptibility

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities

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