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Lista de obras de Robert Hofstra

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

article

A biological question and a balanced (orthogonal) design: the ingredients to efficiently analyze two-color microarrays with Confirmatory Factor Analysis

artículo científico publicado en 2006

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

artículo científico publicado en 2020

A database to support the interpretation of human mismatch repair gene variants

artículo científico publicado en 2008

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

artículo científico publicado en 2009

A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)

scientific journal article

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

artículo científico publicado en 1996

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

artículo científico publicado en 2000

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

artículo científico publicado en 1999

A new perspective on transcriptional system regulation (TSR): towards TSR profiling.

artículos científicos

A novel MSH2 germline mutation in a Druze HNPCC family

artículo científico publicado en 2007

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

artículo científico publicado en 2012

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

artículo científico publicado en 2006

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

artículo científico publicado en 2011

A role for MLH3 in hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2001

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

article

A substantial proportion of microsatellite-unstable colon tumors carryTP53 mutations while not showing chromosomal instability

article

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

artículo científico publicado en 2002

Absence of mutations in the RET gene in acute myeloid leukemia

article

Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a.

artículo científico publicado en 2003

Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation?

artículo científico publicado en 2000

An updated and upgraded L1CAM mutation database

artículo científico publicado en 2010

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

artículo científico publicado en 2001

Assessment of functional effects of unclassified genetic variants

artículo científico publicado en 2008

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

artículo científico publicado en 1999

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes

article

Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome

artículo científico publicado en 2009

Brush border myosin Ia inactivation in gastric but not endometrial tumors.

artículo científico publicado en 2012

Building a brain in the gut: development of the enteric nervous system ⬇️

artículo científico publicado el 27 de noviembre de 2012

C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging

artículo científico publicado en 2008

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

scientific article published on 04 March 2011

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

artículo científico publicado en 2012

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

artículo científico publicado en 2009

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

artículo científico publicado en 2012

Cell-free assay breakthrough for MLH1 variants.

artículo científico publicado en 2010

Charles Buys (1942-2014).

artículo científico publicado en 2014

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease

artículo científico publicado en 2013

Clinical relevance of 18F-FDG PET and 18F-DOPA PET in recurrent medullary thyroid carcinoma.

artículo científico publicado en 2012

Coexistent Hirschsprung's disease and esophageal achalasia in male siblings

artículo científico publicado en 1997

Colorectal cancer and theCHEK2 1100delC mutation

article

Combined adverse effects of maternal smoking and high body mass index on heart development in offspring: evidence for interaction?

artículo científico publicado en 2012

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

artículo científico publicado en 2008

Comprehensive TP53-denaturing gradient gel electrophoresis mutation detection assay also applicable to archival paraffin-embedded tissue.

artículo científico

Comprehensive and accurate mutation scanning of theCFTR gene by two-dimensional DNA electrophoresis

article

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

artículo científico publicado en 2012

Constipation as the Presenting Symptom in De Novo Multiple Endocrine Neoplasia Type 2B

article

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

artículo científico publicado en 2013

Correspondence: SEMA4A variation and risk of colorectal cancer

artículo científico publicado en 2016

Current concepts in RET-related genetics, signaling and therapeutics

artículo científico publicado en 2006

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

article

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

article

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

artículo científico publicado en 2011

Determination of TP53 mutation is more relevant than microsatellite instability status for the prediction of disease-free survival in adjuvant-treated stage III colon cancer patients.

artículo científico publicado en 2005

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

artículo científico publicado en 2010

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

artículo científico publicado en 2004

Distinct transcriptional changes in donor kidneys upon brain death induction in rats: insights in the processes of brain death.

artículo científico publicado en 2004

Do microsatellite instability profiles really differ between colorectal and endometrial tumors?

artículo científico publicado en 2009

Endocrine tumours: progressive metastatic medullary thyroid carcinoma: first- and second-line strategies.

artículo científico publicado en 2015

Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

article

Estrogens, MSI and Lynch syndrome-associated tumors.

artículo científico publicado en 2009

Evidence based selection of housekeeping genes

artículo científico publicado en 2007

Exon structure and flanking intronic sequences of the human RET proto-oncogene

artículo científico publicado en 1993

Expression of tumour necrosis factor-related apoptosis-inducing ligand death receptors in sporadic and hereditary colorectal tumours: Potential targets for apoptosis induction

article

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.

artículo científico publicado en 1996

Familial endometrial cancer in female carriers of MSH6 germline mutations

artículo científico publicado en 1999

Fine mapping of the 9q31 Hirschsprung's disease locus.

artículo científico publicado en 2010

Focal adhesion kinase (FAK) binds RET kinase via its FERM domain, priming a direct and reciprocal RET-FAK transactivation mechanism.

artículo científico publicado en 2011

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

artículo científico publicado en 2007

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability

artículo científico publicado en 2015

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

artículo científico publicado en 2009

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

artículo científico publicado en 2009

Getting rid of the PMS2 pseudogenes: mission impossible?

artículo científico publicado en 2007

Haplotype sharing test maps genes for familial cardiomyopathies.

artículo científico publicado en 2011

High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability.

artículo científico publicado en 2006

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

artículo científico

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics

article

Hirschsprung disease, associated syndromes and genetics: a review

artículo científico publicado en 2007

Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.

artículo científico publicado en 2010

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

artículo científico publicado en 2005

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

artículo científico publicado en 2002

Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.

artículo científico publicado en 2010

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

artículo científico publicado en 2006

Identifying candidate Hirschsprung disease-associated RET variants

artículo científico publicado en 2005

InSiGHT leads in the implementation of the Human Variome Project

artículo científico publicado en 2011

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

article

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

scientific article published on May 2009

KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

artículo científico publicado en 2010

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

artículo científico publicado en 2004

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

artículo científico publicado en 2008

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

artículo científico publicado en 2009

MBD4 mutations are rare in gastric carcinomas with microsatellite instability

artículo científico publicado en 2003

MEIS and PBX homeobox proteins in ovarian cancer.

artículo científico publicado en 2007

MEN2A-RET-induced cellular transformation by activation of STAT3

artículo científico publicado en 2001

MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer

article

MSH2 andMLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

article

MUTYH and the mismatch repair system: partners in crime?

artículo científico publicado en 2006

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

artículo científico publicado en 2012

Medullary Thyroid Cancer in a Patient with Hirschsprung Disease with a C609Y Germline RET-mutation

artículo científico publicado en 2005

Medullary thyroid carcinoma and biomarkers: past, present and future

artículo científico publicado en 2009

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

artículo científico publicado en 2009

Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?

artículo científico publicado en 2007

Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients

artículo científico publicado en 2009

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

article

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

artículo científico publicado en 1996

Mutation update on the CHD7 gene involved in CHARGE syndrome

artículo científico publicado en 2012

Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

article

Mutations in SCG10 are not involved in Hirschsprung disease

artículo científico publicado en 2010

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

artículo científico publicado en 2015

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

artículo científico publicado en 1999

Natural gene therapy in dystrophic epidermolysis bullosa

artículo científico publicado en 2011

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

artículo científico publicado en 2014

No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer

article

No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.

artículo científico publicado en 2004

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations

artículo científico publicado en 2014

No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma

scientific article published on 01 March 1996

Novel no-stop FLNA mutation causes multi-organ involvement in males

article

Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1)

artículo científico publicado en 2007

Ordering of markers in the pericentromeric region of chromosome 10

artículo científico publicado en 1995

PMS2 involvement in patients suspected of Lynch syndrome.

artículo científico publicado en 2009

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

artículo científico publicado en 2011

Pathways systematically associated to Hirschsprung's disease

artículo científico publicado en 2013

Perspectives for tailored chemoprevention and treatment of colorectal cancer in Lynch syndrome.

artículo científico publicado en 2010

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

artículo científico publicado en 2012

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

artículo científico publicado en 2006

Predictive value of thymidylate synthase and dihydropyrimidine dehydrogenase protein expression on survival in adjuvantly treated stage III colon cancer patients

artículo científico publicado en 2005

RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors

artículo científico publicado en 2006

RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas.

artículo científico publicado en 2012

Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation.

artículo científico publicado en 2007

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis

artículo científico publicado en 2014

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

artículo científico publicado en 2015

Reduced endothelin-3 expression in sporadic Hirschsprung disease

artículo científico publicado en 2000

Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance

artículo científico publicado en 2013

Segregation at three loci explains familial and population risk in Hirschsprung disease

artículo científico publicado en 2002

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

article

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

artículo científico publicado en 2009

Somatic mutations in mismatch repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype

artículo científico publicado en 2008

Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting

artículo científico publicado en 2009

Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting.

artículo científico publicado en 2007

Survival-related profile, pathways, and transcription factors in ovarian cancer

scientific article published on February 2009

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

artículo científico publicado en 2013

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

artículo científico publicado en 2009

Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development.

artículo científico publicado en 2012

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.

artículo científico publicado en 1999

The Effects of Four Different Tyrosine Kinase Inhibitors on Medullary and Papillary Thyroid Cancer Cells ⬇️

artículo científico publicado el 6 de abril de 2011

The Human Leukocyte Antigen Region and Colorectal Cancer Risk

article

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals

artículo científico publicado en 2014

The cardiac phenotype in patients with a CHD7 mutation.

artículo científico publicado en 2013

The entire miR-200 seed family is strongly deregulated in clear cell renal cell cancer compared to the proximal tubular epithelial cells of the kidney.

artículo científico publicado en 2012

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

artículo científico publicado en 2011

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

artículo científico publicado en 2010

The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?

article

The role of maternal-fetal cholesterol transport in early fetal life: current insights.

artículo científico

Three novel KCNA1 mutations in episodic ataxia type I families

artículo científico publicado en 1998

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

artículo científico publicado en 2003

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

artículo científico publicado en 2016

Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats

artículo científico publicado en 2010

Two cases of the caudal duplication anomaly including a discordant monozygotic twin

artículo científico publicado en 2002

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

artículo científico publicado en 2020

Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.

artículo científico publicado en 2010

What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration ⬇️

artículo científico publicado el 12 de noviembre de 2011

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

artículo científico publicado en 2017

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