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Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia

Leukemia, 2007-05, Vol.21 (5), p.1108-1109

2007

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Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Nature genetics, 2001-12, Vol.29 (4), p.465-468

2001

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Fluorescence In Situ Hybridization Mapping of Translocations and Deletions Involving the Short Arm of Human Chromosome 12 in Malignant Hematologic Diseases

Blood, 1994-11, Vol.84 (10), p.3473-3482

1994

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Heterogeneity in the Breakpoints in Balanced Rearrangements Involving Band 12p13 in Hematologic Malignancies Identified by Fluorescence In Situ Hybridization: TEL (ETV6 ) Is Involved in Only One Half

Blood, 1997-12, Vol.90 (12), p.4886-4893

1997

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Cardiovascular disease in Noonan syndrome

Archives of disease in childhood, 2014-07, Vol.99 (7), p.629-634

2014

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Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex

Journal of cell science, 1994-04, Vol.107 (4), p.765-774

1994

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Homologous Recombination between Plasmids in Mammalian Cells can be Enhanced by Treatment of Input DNA

Proceedings of the National Academy of Sciences - PNAS, 1984-05, Vol.81 (10), p.3153-3157

1984

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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6

Journal of medical genetics, 2000-11, Vol.37 (11), p.884-886

2000

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[41] Methods for introducing DNA into mammalian cells

Methods in Enzymology, 1990, Vol.185, p.527-537

1990

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Genomic and expression analysis of the 12p11-p12 amplicon using EST arrays identifies two novel amplified and overexpressed genes

Cancer research (Chicago, Ill.), 2002-11, Vol.62 (21), p.6218-6223

2002

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Homologous recombination catalyzed by human cell extracts

Molecular and Cellular Biology, 1985-04, Vol.5 (4), p.714-720

1985

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Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106

Cytogenetics and cell genetics, 1996, Vol.72 (2-3), p.250

1996

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Generation of a Nested Series of Interstitial Deletions in Yeast Artificial Chromosomes Carrying Human DNA

Proceedings of the National Academy of Sciences - PNAS, 1991-07, Vol.88 (13), p.5744-5748

1991

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Translocation breakpoints upstream of the HMGIC gene in uterine leiomyomata suggest dysregulation of this gene by a mechanism different from that in lipomas

Genes chromosomes & cancer, 1996-09, Vol.17 (1), p.1-6

1996

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Insertion of DNA sequences into the human chromosomal β -globin locus by homologous recombination

Nature (London), 1985-01, Vol.317 (6034), p.230-234

1985

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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American journal of human genetics, 2002-06, Vol.70 (6), p.1555-1563

2002

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Velo-cardio-facial syndrome : frequency and extent of 22q11 deletions

American journal of medical genetics, 1995-07, Vol.57 (3), p.514-522

1995

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Genomics: stock-taking after 5 years

Genomics (San Diego, Calif.), 1993-01, Vol.15 (1), p.1-2

1993

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Activation of Human β -Globin Genes from Nonerythroid Cells by Fusion with Murine Erythroleukemia Cells

Proceedings of the National Academy of Sciences - PNAS, 1980-06, Vol.77 (6), p.3435-3439

1980

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Mutations in the protein tyrosine kinase gene, PTPN11 , cause Noonan syndrome

Nature genetics, 2001-12, Vol.29 (4), p.491-491

2001

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Modulation of transfected gene expression mediated by changes in chromatin structure

Cell, 1982-01, Vol.31 (3), p.521-529

1982

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Insulin-Induced Reactivation of an Inactive Herpes Simplex Thymidine Kinase Gene

Proceedings of the National Academy of Sciences - PNAS, 1984-02, Vol.81 (3), p.838-842

1984

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Assignment of the gene for galactokinase to human chromosome 17 and its regional localisation to band q21-22

Nature (London), 1974-10, Vol.251 (5476), p.633-636

1974

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Identification of a YAC spanning the translocation breakpoints in uterine leiomyomata, pulmonary chondroid hamartoma, and lipoma: physical mapping of the 12q14–q15 breakpoint region in uterine leiomyomata

Genomics (San Diego, Calif.), 1995-03, Vol.26 (2), p.265-271

1995

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Homologous recombination with DNA introduced into mammalian cells

Cold Spring Harbor Symposia on Quantitative Biology, 1984-01, Vol.49, p.161

1984

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Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia

Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Fluorescence In Situ Hybridization Mapping of Translocations and Deletions Involving the Short Arm of Human Chromosome 12 in Malignant Hematologic Diseases

Heterogeneity in the Breakpoints in Balanced Rearrangements Involving Band 12p13 in Hematologic Malignancies Identified by Fluorescence In Situ Hybridization: TEL (ETV6 ) Is Involved in Only One Half

Cardiovascular disease in Noonan syndrome

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex

Homologous Recombination between Plasmids in Mammalian Cells can be Enhanced by Treatment of Input DNA

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6

[41] Methods for introducing DNA into mammalian cells

Genomic and expression analysis of the 12p11-p12 amplicon using EST arrays identifies two novel amplified and overexpressed genes

Homologous recombination catalyzed by human cell extracts

Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106

Generation of a Nested Series of Interstitial Deletions in Yeast Artificial Chromosomes Carrying Human DNA

Translocation breakpoints upstream of the HMGIC gene in uterine leiomyomata suggest dysregulation of this gene by a mechanism different from that in lipomas

Insertion of DNA sequences into the human chromosomal β -globin locus by homologous recombination

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Velo-cardio-facial syndrome : frequency and extent of 22q11 deletions

Genomics: stock-taking after 5 years

Activation of Human β -Globin Genes from Nonerythroid Cells by Fusion with Murine Erythroleukemia Cells

Mutations in the protein tyrosine kinase gene, PTPN11 , cause Noonan syndrome

Modulation of transfected gene expression mediated by changes in chromatin structure

Insulin-Induced Reactivation of an Inactive Herpes Simplex Thymidine Kinase Gene

Assignment of the gene for galactokinase to human chromosome 17 and its regional localisation to band q21-22

Identification of a YAC spanning the translocation breakpoints in uterine leiomyomata, pulmonary chondroid hamartoma, and lipoma: physical mapping of the 12q14–q15 breakpoint region in uterine leiomyomata

Homologous recombination with DNA introduced into mammalian cells

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