Lista de obras -

A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing

artículo científico publicado en 1997

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

article

A homozygous deletion in a small cell lung cancer cell line involving a 3p21 region with a marked instability in yeast artificial chromosomes

artículo científico publicado en 1994

A human glioblastoma line with karyotypic nullisomy 13 containing several chromosome 13-specific sequences

artículo científico publicado en 1988

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

artículo científico publicado en 2009

A post hoc study on gene panel analysis for the diagnosis of dystonia

artículo científico publicado en 2017

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

artículo científico publicado en 2009

A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus

artículo científico publicado en 1986

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

artículo científico publicado en 2015

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

artículo científico publicado en 2016

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

article

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

scientific article published on 17 September 2020

Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer

artículo científico publicado en 1987

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

artículo científico publicado en 2003

Direct molecular analysis of a deletion of 3p in tumors from patients with sporadic renal cell carcinoma

artículo científico publicado en 1988

Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain

artículo científico publicado en 2018

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

artículo científico publicado en 2020

Genome analysis of small cell lung cancer (SCLC) and clinical significance

scientific article published on 01 January 1987

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

High resolution SNP array profiling identifies variability in retinoblastoma genome stability

scientific article published on 05 November 2013

IVF and retinoblastoma revisited ⬇️

artículo científico publicado el 23 de noviembre de 2011

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

artículo científico publicado en 2013

Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

article

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

artículo científico publicado en 2010

Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia

artículo científico publicado en 2009

Localization by in situ hybridization of three 3p probes with respect to the breakpoint in a t(3;8) in hereditary renal cell carcinoma

artículo científico publicado en 1991

Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion

artículo científico publicado en 1988

Localization of amplified c-myc and n-myc in small cell lung cancer cell lines

artículo científico publicado en 1989

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

artículo científico publicado en 2008

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

artículo científico publicado en 2012

No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors

scientific article published on 01 August 2005

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

scientific article published on 01 September 2002

RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients

artículo científico publicado en 2014

RB1 mutations and second primary malignancies after hereditary retinoblastoma ⬇️

artículo científico publicado el 1 de junio de 2012

Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

article

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

artículo científico publicado en 2016

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

artículo científico publicado en 2010

The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Response

artículo científico publicado en 2017

The HLA class III subregion is responsible for an increased breast cancer risk

scientific article published on 22 July 2003

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol ⬇️

artículo científico publicado el 1 de octubre de 1997

The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB ⬇️

artículo científico publicado el 1 de noviembre de 1991

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

artículo científico publicado en 2016

Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands

artículo científico publicado en 2014

Lista de obras de

A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

A homozygous deletion in a small cell lung cancer cell line involving a 3p21 region with a marked instability in yeast artificial chromosomes

A human glioblastoma line with karyotypic nullisomy 13 containing several chromosome 13-specific sequences

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

A post hoc study on gene panel analysis for the diagnosis of dystonia

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

Direct molecular analysis of a deletion of 3p in tumors from patients with sporadic renal cell carcinoma

Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

Genome analysis of small cell lung cancer (SCLC) and clinical significance

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

High resolution SNP array profiling identifies variability in retinoblastoma genome stability

IVF and retinoblastoma revisited ⬇️

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia

Localization by in situ hybridization of three 3p probes with respect to the breakpoint in a t(3;8) in hereditary renal cell carcinoma

Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion

Localization of amplified c-myc and n-myc in small cell lung cancer cell lines

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients

RB1 mutations and second primary malignancies after hereditary retinoblastoma ⬇️

Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Response

The HLA class III subregion is responsible for an increased breast cancer risk

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol ⬇️

The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB ⬇️

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands