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Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Cell, 2001-01, Vol.104 (2), p.195-203

2001

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Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

Journal of medical genetics, 2003-10, Vol.40 (10), p.761-766

2003

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Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Journal of medical genetics, 2003-10, Vol.40 (10), p.741-746

2003

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K‐ras mutations in human adenocarcinoma of the lung: Association with smoking and occupational exposure to asbestos

International journal of cancer, 1993-01, Vol.53 (2), p.250-256

1993

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A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

Nature (London), 1998-01, Vol.391 (6663), p.184-187

1998

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Molecular Cloning of a Novel Human CC Chemokine Secondary Lymphoid-Tissue Chemokine That Is a Potent Chemoattractant for Lymphocytes and Mapped to Chromosome 9p13

The Journal of biological chemistry, 1997-08, Vol.272 (31), p.19518-19524

1997

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p53 and ras gene mutations in lung cancer: implications for smoking and occupational exposures

Journal of occupational and environmental medicine, 1995-01, Vol.37 (1), p.69-76

1995

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A molecular and epidemiological study on bladder cancer: p53 mutations, tobacco smoking, and occupational exposure to asbestos

Cancer epidemiology, biomarkers & prevention, 1996-01, Vol.5 (1), p.33

1996

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Uniparental Disomy in Cartilage-Hair Hypoplasia

European journal of human genetics : EJHG, 1997-01, Vol.5 (1), p.35-42

1997

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Integrated High-Resolution BAC, P1, and Transcript Map of the CHH Region in Chromosome 9p13

Genomics (San Diego, Calif.), 1999-08, Vol.59 (3), p.319-325

1999

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Denaturing gradient gel electrophoresis (DGGE) assay for K-ras and N-ras genes: detection of K-ras point mutations in human lung tumour DNA

Human molecular genetics, 1993-06, Vol.2 (6), p.639-644

1993

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Dynamic expression and nuclear accumulation of beta-catenin during the development of hair follicle-derived structures

Mechanisms of development, 2001-12, Vol.109 (2), p.173-181

2001

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p53 antibodies in the sera of lung cancer patients: Comparison with p53 mutation in the tumour tissue

International journal of cancer, 1995-06, Vol.64 (3), p.176-181

1995

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Novel Heat Pulse Extension-PCR–Based Method for Detection of Large CTG-Repeat Expansions in Myotonic Dystrophy Type 1

The Journal of molecular diagnostics : JMD, 2013, Vol.15 (1), p.110-115

2013

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Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy

Neuromuscular disorders : NMD, 2002-02, Vol.12 (2), p.151-158

2002

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Detection of ras Gene Mutations in Human Lung Cancer: Comparison of Two Screening Assays Based on the Polymerase Chain Reaction

Environmental health perspectives, 1992-11, Vol.98, p.183-185

1992

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Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy

European journal of human genetics : EJHG, 1997-07, Vol.5 (4), p.229-234

1997

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Detection of Loss of Heterozygosity in the p53 Tumor Suppressor Gene Using a PCR-based Assay

Pathology, research and practice, 1995-06, Vol.191 (5), p.399-402

1995

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The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

American journal of medical genetics. Part C, Seminars in medical genetics, 2003-08, Vol.121C (1), p.81-83

2003

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K-ras oncogene codon 12 point mutations in testicular cancer

Environmental health perspectives, 1993-10, Vol.101 (Suppl 3), p.185-187

1993

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Chromosomal Localization of the Human Diadenosine 5′,5‴-P1,P4-Tetraphosphate Pyrophosphohydrolase (Ap4A Hydrolase) Gene (APAH1) to 9p13

Genomics (San Diego, Calif.), 1998-01, Vol.47 (2), p.307-309

1998

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Spectrum of spontaneous and 2,4,6-trinitrotoluene (TNT)-induced mutations in Salmonella typhimurium strains with different nitroreductase and O-acetyltransferase activities

Mutation research, 1997-10, Vol.379 (2), p.185-190

1997

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Mutations in two sets of bladder cancer patients

European journal of cancer (1990), 1994, Vol.30, p.S3-S3

1994

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K-ras Oncogene Codon 12 Point Mutations in Testicular Cancer

Environmental health perspectives, 1993-10, Vol.101 (suppl 3), p.185-187

1993

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Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP

European journal of human genetics : EJHG, 2002-07, Vol.10 (7), p.439-447

2002

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Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

K‐ras mutations in human adenocarcinoma of the lung: Association with smoking and occupational exposure to asbestos

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

Molecular Cloning of a Novel Human CC Chemokine Secondary Lymphoid-Tissue Chemokine That Is a Potent Chemoattractant for Lymphocytes and Mapped to Chromosome 9p13

p53 and ras gene mutations in lung cancer: implications for smoking and occupational exposures

A molecular and epidemiological study on bladder cancer: p53 mutations, tobacco smoking, and occupational exposure to asbestos

Uniparental Disomy in Cartilage-Hair Hypoplasia

Integrated High-Resolution BAC, P1, and Transcript Map of the CHH Region in Chromosome 9p13

Denaturing gradient gel electrophoresis (DGGE) assay for K-ras and N-ras genes: detection of K-ras point mutations in human lung tumour DNA

Dynamic expression and nuclear accumulation of beta-catenin during the development of hair follicle-derived structures

p53 antibodies in the sera of lung cancer patients: Comparison with p53 mutation in the tumour tissue

Novel Heat Pulse Extension-PCR–Based Method for Detection of Large CTG-Repeat Expansions in Myotonic Dystrophy Type 1

Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy

Detection of ras Gene Mutations in Human Lung Cancer: Comparison of Two Screening Assays Based on the Polymerase Chain Reaction

Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy

Detection of Loss of Heterozygosity in the p53 Tumor Suppressor Gene Using a PCR-based Assay

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

K-ras oncogene codon 12 point mutations in testicular cancer

Chromosomal Localization of the Human Diadenosine 5′,5‴-P1,P4-Tetraphosphate Pyrophosphohydrolase (Ap4A Hydrolase) Gene (APAH1) to 9p13

Spectrum of spontaneous and 2,4,6-trinitrotoluene (TNT)-induced mutations in Salmonella typhimurium strains with different nitroreductase and O-acetyltransferase activities

Mutations in two sets of bladder cancer patients

K-ras Oncogene Codon 12 Point Mutations in Testicular Cancer

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP

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