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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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Large genomic rearrangements and germline epimutations in Lynch syndrome

International journal of cancer, 2009-05, Vol.124 (10), p.2333-2340

2009

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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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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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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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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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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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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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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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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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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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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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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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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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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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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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The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most finnish cases: Medical genetic studies in the Amish

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

2003

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Detection of Serum p53 Protein in Lung Cancer Patients

Journal of occupational and environmental medicine, 1994-02, Vol.36 (2), p.155-160

1994

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K-ras Oncogene Codon 12 Point Mutations in Testicular Cancer

Environmental health perspectives, 1993-10, Vol.101, p.185

1993

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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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Separation of transforming N-ras mutations in codons 12, 13 and 61 by denaturing gradient gel electrophoresis: investigation based on a set of phagemid constructs

Mutation research, 1993-02, Vol.285 (2), p.287-294

1993

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Comparison of DGGE and CDGE in detection of single base changes in the hamster hprt and human N- ras genes

Mutation Research, 1995-06, Vol.334 (3), p.357-364

1995

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

Large genomic rearrangements and germline epimutations in Lynch syndrome

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

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

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

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

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

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

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

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

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

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

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

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

K-ras Oncogene Codon 12 Point Mutations in Testicular Cancer

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

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most finnish cases: Medical genetic studies in the Amish

Detection of Serum p53 Protein in Lung Cancer Patients

K-ras Oncogene Codon 12 Point Mutations in Testicular Cancer

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

Separation of transforming N-ras mutations in codons 12, 13 and 61 by denaturing gradient gel electrophoresis: investigation based on a set of phagemid constructs

Comparison of DGGE and CDGE in detection of single base changes in the hamster hprt and human N- ras genes

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