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Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing

Clinical genetics, 2010-04, Vol.77 (4), p.342-349

2010

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Breast cancer after bilateral risk-reducing mastectomy

Clinical genetics, 2011-05, Vol.79 (5), p.431-437

2011

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Osteoclast nuclei of myeloma patients show chromosome translocations specific for the myeloma cell clone: a new type of cancer-host partnership?

The Journal of pathology, 2007-01, Vol.211 (1), p.10-17

2007

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Anti-inflammatory heat shock protein 70 genes are positively associated with human survival

Current pharmaceutical design, 2010-03, Vol.16 (7), p.796-801

2010

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Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy

Prenatal diagnosis, 2013-12, Vol.33 (12), p.1131-1136

2013

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The Pattern of Chromosome-Specific Variations in Telomere Length in Humans Shows Signs of Heritability and Is Maintained through Life

Annals of the New York Academy of Sciences, 2006-05, Vol.1067 (1), p.311-316

2006

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Strategy in clinical practice for classification of unselected colorectal tumours based on mismatch repair deficiency

Colorectal disease, 2008-06, Vol.10 (5), p.490-497

2008

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Lipid-binding proteins modulate ligand-dependent trans-activation by peroxisome proliferator-activated receptors and localize to the nucleus as well as the cytoplasm

Journal of lipid research, 2000-11, Vol.41 (11), p.1740-1751

2000

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Nuclei size in relation to nuclear status and aneuploidy rate for 13 chromosomes in donated four cells embryos

Journal of assisted reproduction and genetics, 2008-03, Vol.25 (2-3), p.95-102

2008

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The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

Human molecular genetics, 1997-05, Vol.6 (5), p.695-707

1997

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Sequential FISH analysis using competitive displacement of labelled peptide nucleic acid probes for eight chromosomes in human blastomeres

Human reproduction (Oxford), 2005-04, Vol.20 (4), p.1072-1077

2005

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285 Abnormalities in small fibre structure and function in female Fabry patients

European journal of pain, 2007-06, Vol.11 (1), p.126-126

2007

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Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes

Gene therapy, 2000-12, Vol.7 (23), p.1971-1978

2000

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Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

Pediatric research, 1996-06, Vol.39 (6), p.1059-1066

1996

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Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood

The Journal of experimental medicine, 1999-07, Vol.190 (2), p.157-168

1999

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No Association between Telomere Length and Survival among the Elderly and Oldest Old

Epidemiology (Cambridge, Mass.), 2006-03, Vol.17 (2), p.190-194

2006

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Staining of human telomeres with primed in situ labeling (PRINS)

Cytogenetic and genome research, 1995-01, Vol.68 (1-2), p.115-118

1995

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Functional and structural nerve fiber findings in heterozygote patients with Fabry disease

Pain (Amsterdam), 2009-09, Vol.145 (1-2), p.237-245

2009

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The Werner Syndrome Helicase and Exonuclease Cooperate to Resolve Telomeric D Loops in a Manner Regulated by TRF1 and TRF2

Molecular cell, 2004-06, Vol.14 (6), p.763-774

2004

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Studies on the Isolation and Identification of Fetal Nucleated Red Blood Cells in the Circulation of Pregnant Women before and after Chorion Villus Sampling

Fetal diagnosis and therapy, 2003-09, Vol.18 (5), p.376-384

2003

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Construction of a panel of chromosome-specific oligonucleotide probes (PRINS-primers) useful for the identification of individual human chromosomes in situ

Cytogenetic and genome research, 1995-01, Vol.71 (2), p.142-147

1995

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Gene Expression Profiling in Werner Syndrome Closely Resembles That of Normal Aging

Proceedings of the National Academy of Sciences - PNAS, 2003-10, Vol.100 (21), p.12259-12264

2003

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Genetics of human longevity with emphasis on the relevance of HSP70 as candidate genes

Frontiers in bioscience, 2007-05, Vol.12 (8-12), p.4504

2007

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LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene

European journal of human genetics : EJHG, 2001-11, Vol.9 (11), p.815-822

2001

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Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing

Breast cancer after bilateral risk-reducing mastectomy

Osteoclast nuclei of myeloma patients show chromosome translocations specific for the myeloma cell clone: a new type of cancer-host partnership?

Anti-inflammatory heat shock protein 70 genes are positively associated with human survival

Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy

The Pattern of Chromosome-Specific Variations in Telomere Length in Humans Shows Signs of Heritability and Is Maintained through Life

Strategy in clinical practice for classification of unselected colorectal tumours based on mismatch repair deficiency

Lipid-binding proteins modulate ligand-dependent trans-activation by peroxisome proliferator-activated receptors and localize to the nucleus as well as the cytoplasm

Nuclei size in relation to nuclear status and aneuploidy rate for 13 chromosomes in donated four cells embryos

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

Sequential FISH analysis using competitive displacement of labelled peptide nucleic acid probes for eight chromosomes in human blastomeres

285 Abnormalities in small fibre structure and function in female Fabry patients

Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood

No Association between Telomere Length and Survival among the Elderly and Oldest Old

Staining of human telomeres with primed in situ labeling (PRINS)

Functional and structural nerve fiber findings in heterozygote patients with Fabry disease

The Werner Syndrome Helicase and Exonuclease Cooperate to Resolve Telomeric D Loops in a Manner Regulated by TRF1 and TRF2

Studies on the Isolation and Identification of Fetal Nucleated Red Blood Cells in the Circulation of Pregnant Women before and after Chorion Villus Sampling

Construction of a panel of chromosome-specific oligonucleotide probes (PRINS-primers) useful for the identification of individual human chromosomes in situ

Gene Expression Profiling in Werner Syndrome Closely Resembles That of Normal Aging

Genetics of human longevity with emphasis on the relevance of HSP70 as candidate genes

LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene

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