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Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

Journal of medical genetics, 2005-08, Vol.42 (8), p.666-672

2005

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Role for the Wilms Tumor Gene in Genital Development?

Proceedings of the National Academy of Sciences - PNAS, 1990-07, Vol.87 (14), p.5383-5386

1990

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Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

Nature (London), 1990-02, Vol.343 (6260), p.774-778

1990

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X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function

Investigative ophthalmology & visual science, 2000-08, Vol.41 (9), p.2712-2721

2000

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Microdeletions in patients with Gusher-associated, X-linked mixed deafness (DFN3)

American journal of human genetics, 1992-07, Vol.51 (1), p.38-44

1992

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The β -subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus

Nature (London), 1986-06, Vol.321 (6073), p.882-887

1986

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Report of the committee on the genetic constitution of chromosome 1

Cytogenetic and genome research, 1989-01, Vol.51 (1-4), p.67-90

1989

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Amyloid $\beta $ Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage near the Alzheimer Locus

Science (American Association for the Advancement of Science), 1987-02, Vol.235 (4791), p.880-884

1987

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Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11

The Journal of biological chemistry, 1992-05, Vol.267 (13), p.9281-9288

1992

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Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells

The Journal of biological chemistry, 1992-01, Vol.267 (2), p.1279-1285

1992

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Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene

Science (American Association for the Advancement of Science), 1990-11, Vol.250 (4983), p.1000-1002

1990

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Human neutrophil cytochrome b light chain (p22-phox) : gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease

The Journal of clinical investigation, 1990-11, Vol.86 (5), p.1729-1737

1990

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Localisation of genetic markers and orientation of the linkage group on chromosome 19

Human genetics, 1984-01, Vol.68 (4), p.282-285

1984

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The genomic organization and expression of the WT1 gene

Genomics (San Diego, Calif.), 1992-04, Vol.12 (4), p.807-813

1992

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Chromosome 13 restriction fragment length polymorphisms

Human genetics, 1984-01, Vol.65 (4), p.320-324

1984

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The Major Human Erythroid DNA-Binding Protein (GF-1): Primary Sequence and Localization of the Gene to the X Chromosome

Proceedings of the National Academy of Sciences - PNAS, 1990-01, Vol.87 (2), p.668-672

1990

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Localization of the LDHA gene to 11p14→11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13

Human genetics, 1986-12, Vol.74 (4), p.331-334

1986

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Transformation associated p53 protein is encoded by a gene on human chromosome 17

Somatic cell and molecular genetics, 1985-09, Vol.11 (5), p.505-510

1985

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Human Von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal Localization

Science (American Association for the Advancement of Science), 1985-06, Vol.228 (4706), p.1401-1406

1985

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Molecular Characterization of Sialophorin (CD43), the Lymphocyte Surface Sialoglycoprotein Defective in Wiskott-Aldrich Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1989-04, Vol.86 (8), p.2819-2823

1989

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Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene

The Journal of biological chemistry, 1985-05, Vol.260 (10), p.6240-6247

1985

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Homozygosity of chromosome 13 in retinoblastoma

The New England journal of medicine, 1984-03, Vol.310 (9), p.550-553

1984

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Low incidence of deletion of the esterase D locus in retinoblastoma patients

Human genetics, 1983-01, Vol.64 (2), p.151-155

1983

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Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis

The Journal of biological chemistry, 1988-04, Vol.263 (12), p.5910-5915

1988

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Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4

The Journal of biological chemistry, 1987-07, Vol.262 (21), p.10065-10071

1987

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Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

Role for the Wilms Tumor Gene in Genital Development?

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function

Microdeletions in patients with Gusher-associated, X-linked mixed deafness (DFN3)

The β -subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus

Report of the committee on the genetic constitution of chromosome 1

Amyloid $\beta $ Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage near the Alzheimer Locus

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11

Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells

Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene

Human neutrophil cytochrome b light chain (p22-phox) : gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease

Localisation of genetic markers and orientation of the linkage group on chromosome 19

The genomic organization and expression of the WT1 gene

Chromosome 13 restriction fragment length polymorphisms

The Major Human Erythroid DNA-Binding Protein (GF-1): Primary Sequence and Localization of the Gene to the X Chromosome

Localization of the LDHA gene to 11p14→11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13

Transformation associated p53 protein is encoded by a gene on human chromosome 17

Human Von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal Localization

Molecular Characterization of Sialophorin (CD43), the Lymphocyte Surface Sialoglycoprotein Defective in Wiskott-Aldrich Syndrome

Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene

Homozygosity of chromosome 13 in retinoblastoma

Low incidence of deletion of the esterase D locus in retinoblastoma patients

Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis

Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4

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