Lista de obras - Nelleke A Gruis - Dominio Público Uruguay

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).

artículo científico publicado en 2008

A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds

artículo científico publicado en 2010

A mutation hotspot at the p14ARF splice site.

artículo científico publicado en 2005

A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes

artículo científico publicado en 2009

A road map for efficient and reliable human genome epidemiology

artículo científico publicado en 2006

A variant in FTO shows association with melanoma risk not due to BMI

artículo científico publicado en 2013

Aberrant DNA methylation in cutaneous malignancies.

artículo científico publicado en 2005

Absence of Germline Epimutation of the CDKN2A Gene in Familial Melanoma

article

Acquired melanocytic nevi in childhood and familial melanoma.

artículo científico publicado en 2014

Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS.

artículo científico publicado en 2005

Affected members of melanoma‐prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF

artículo científico publicado en 1997

An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study

artículo científico publicado en 2013

Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

article

Association of HERV-K and LINE-1 hypomethylation with reduced disease-free survival in melanoma patients

artículo científico publicado en 2020

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study

artículo científico publicado en 2010

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines

artículo científico publicado en 1995

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines

artículo científico publicado en 1995

CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families.

artículo científico publicado en 1995

Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients

artículo científico publicado en 2001

Class III β-tubulin, a novel biomarker in the human melanocyte lineage.

artículo científico publicado en 2013

Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A.

artículo científico publicado en 2011

Common sequence variants on 20q11.22 confer melanoma susceptibility

artículo científico publicado en 2008

Cutaneous melanoma: Medical specialists' opinions on follow-up and sentinel lymph node biopsy

artículo científico publicado en 2014

Cutaneous squamous cell carcinoma and p53 codon 72 polymorphism: a need for screening?

artículo científico publicado en 2001

Development and validation of a melanoma risk score based on pooled data from 16 case-control studies ⬇️

artículo científico publicado en 2015

Effectiveness and causes for failure of surveillance of CDKN2A-mutated melanoma families.

artículo científico publicado en 2011

Epigenetic inactivation of RASSF1a in uveal melanoma.

artículo científico

Epigenetic regulation identifies RASEF as a tumor-suppressor gene in uveal melanoma.

artículo científico publicado en 2008

Episodic Src activation in uveal melanoma revealed by kinase activity profiling.

artículo científico publicado en 2009

Expression of Wnt5a and its downstream effector β-catenin in uveal melanoma

scientific article published on 01 December 2007

Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development

artículo científico publicado en 2003

Familial melanoma: a complex disorder leading to controversy on DNA testing.

artículo científico publicado en 2003

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

artículo científico publicado en 2006

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

artículo científico publicado en 2014

Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development.

artículo científico publicado en 2003

Gene-specific fluorescence in-situ hybridization analysis on tissue microarray to refine the region of chromosome 20q amplification in melanoma

article

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

article

Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression

artículo científico publicado en 1995

Genetic testing in familial melanoma: uptake and implications.

artículo científico publicado en 2008

Genetics of Seven Dutch Familial Atypcial Multiple Mole-Menaloma Syndrome Families: A Review of Linkage Results Including Chromosomes 1 and 9

article

Genetics: what advice for patients who present with a family history of melanoma?

artículo científico publicado en 2007

Genome-wide analysis of constitutional DNA methylation in familial melanoma

artículo científico publicado en 2020

Genome-wide analysis of gene and protein expression of dysplastic naevus cells

artículo científico publicado en 2012

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

artículo científico publicado en 2020

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

scientific journal article

Genome-wide association study identifies three loci associated with melanoma risk

scientific article published on 05 July 2009

Genome-wide association study identifies three new melanoma susceptibility loci

artículo científico publicado en 2011

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

artículo científico publicado en 2015

Genome-wide promoter methylation analysis identifies epigenetic silencing of MAPK13 in primary cutaneous melanoma

artículo científico publicado en 2013

Geographical variation in the penetrance of CDKN2A mutations for melanoma

artículo científico publicado en 2002

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

article

Germline TERT promoter mutations are rare in familial melanoma ⬇️

artículo científico publicado en 2015

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

artículo científico publicado en 2017

Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations

artículo científico publicado en 1998

Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations

article

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

Histologic features of melanoma associated with CDKN2A genotype.

artículo científico publicado en 2015

Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds

scientific article published on 01 July 1995

Homozygous germline mutation of CDKN2A/p16 and glucose-6-phosphate dehydrogenase deficiency in a multiple melanoma case

artículo científico publicado en 2003

In-vitro melanoma models: invasive growth is determined by dermal matrix and basement membrane.

artículo científico publicado en 2014

Increased C-MYC copy numbers on the background of CDKN2A loss is associated with improved survival in nodular melanoma

scientific article published on 15 September 2006

Increased Risk of Cancer Other Than Melanoma in CDKN2A Founder Mutation (p16-Leiden)-Positive Melanoma Families

artículo científico publicado en 2008

Increased p21-activated kinase-1 expression is associated with invasive potential in uveal melanoma

artículo científico publicado en 2006

Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study

artículo científico publicado en 2012

Interplay between TERT promoter mutations and methylation culminates in chromatin accessibility and TERT expression

scientific article published on 08 April 2020

Localization of a novel melanoma susceptibility locus to 1p22

artículo científico publicado en 2003

Localization of the 9p Melanoma Susceptibility Locus (MLM) to a 2-cM Region between D9S736 and D9S171

article

MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project

artículo científico publicado en 2014

Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutation

artículo científico publicado en 2010

Management of melanoma families

scientific article published on 16 April 2010

Melanocortin 1 Receptor (MC1R) Gene Variants are Associated with an Increased Risk for Cutaneous Melanoma Which is Largely Independent of Skin Type and Hair Color

article

Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features

artículo científico publicado en 2012

Melanocortin 1 receptor function: shifting gears from determining skin and nevus phenotype to fetal growth

artículo científico publicado en 2012

Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.

artículo científico publicado en 2001

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

artículo científico publicado en 2012

Melanoma risk factors, perceived threat and intentional tanning: an international online survey

artículo científico publicado en 2010

Melanoma susceptibility genes

article

Multiple agminate Spitz naevi

artículo científico publicado en 1998

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

artículo científico publicado en 2014

POT1 loss-of-function variants predispose to familial melanoma

artículo científico publicado en 2014

Perceptions of genetic research and testing among members of families with an increased risk of malignant melanoma

artículo científico publicado en 2012

Phenotypic Variation in Familial Melanoma

artículo científico publicado en 2007

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

artículo científico publicado en 2016

Predictors of sun protection behaviors and severe sunburn in an international online study

artículo científico publicado en 2010

Primary melanoma tumors from CDKN2A mutation carriers do not belong to a distinct molecular subclass.

artículo científico publicado en 2014

Prognostic Significance of Promoter Hypermethylation and Diminished Gene Expression of SYNPO2 in Melanoma ⬇️

artículo científico publicado en 2015

Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013-2018)

artículo científico publicado en 2019

Promoter CpG island hypermethylation in dysplastic nevus and melanoma: CLDN11 as an epigenetic biomarker for malignancy

artículo científico publicado en 2014

Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma.

artículo científico publicado en 2001

Proteomic analysis of uveal melanoma reveals novel potential markers involved in tumor progression

artículo científico publicado en 2006

Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma.

artículo científico publicado en 2008

Risk of cutaneous malignant melanoma in patients with nonfamilial atypical nevi from a pigmented lesions clinic

artículo científico publicado en 1999

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion ofp16 (p16-Leiden)

artículo científico publicado en 2000

Skin equivalent: an attractive model to evaluate early melanoma metastasis

artículo científico publicado en 2000

Skin examination behavior: the role of melanoma history, skin type, psychosocial factors, and region of residence in determining clinical and self-conducted skin examination

artículo científico publicado en 2012

Somatic BRAF and NRAS mutations in familial melanomas with known germline CDKN2A status: a GenoMEL study.

artículo científico publicado en 2013

Sun exposure and melanoma risk at different latitudes: a pooled analysis of 5700 cases and 7216 controls

artículo científico publicado en 2009

Surveillance of Second-Degree Relatives from Melanoma Families with a CDKN2A Germline Mutation

artículo científico publicado en 2013

The Dutch FAMMM family material: Clinical and genetic data ⬇️

artículo científico publicado el 1 de enero de 1992

The Emergence of Networks in Human Genome Epidemiology

article

The effect on melanoma risk of genes previously associated with telomere length

artículo científico publicado en 2014

The emergence of networks in human genome epidemiology: challenges and opportunities

scholarly article published 18 December 2009

The melanocortin-1-receptor gene is the major freckle gene

article

p16(INK4A)-independence of Epstein-Barr virus-induced cell proliferation and virus latency

artículo científico publicado en 2004

Lista de obras de Nelleke A Gruis

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).

A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds

A mutation hotspot at the p14ARF splice site.

A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes

A road map for efficient and reliable human genome epidemiology

A variant in FTO shows association with melanoma risk not due to BMI

Aberrant DNA methylation in cutaneous malignancies.

Absence of Germline Epimutation of the CDKN2A Gene in Familial Melanoma

Acquired melanocytic nevi in childhood and familial melanoma.

Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS.

Affected members of melanoma‐prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF

An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study

Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

Association of HERV-K and LINE-1 hypomethylation with reduced disease-free survival in melanoma patients

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines

CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families.

Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients

Class III β-tubulin, a novel biomarker in the human melanocyte lineage.

Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A.

Common sequence variants on 20q11.22 confer melanoma susceptibility

Cutaneous melanoma: Medical specialists' opinions on follow-up and sentinel lymph node biopsy

Cutaneous squamous cell carcinoma and p53 codon 72 polymorphism: a need for screening?

Development and validation of a melanoma risk score based on pooled data from 16 case-control studies ⬇️

Effectiveness and causes for failure of surveillance of CDKN2A-mutated melanoma families.

Epigenetic inactivation of RASSF1a in uveal melanoma.

Epigenetic regulation identifies RASEF as a tumor-suppressor gene in uveal melanoma.

Episodic Src activation in uveal melanoma revealed by kinase activity profiling.

Expression of Wnt5a and its downstream effector β-catenin in uveal melanoma

Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development

Familial melanoma: a complex disorder leading to controversy on DNA testing.

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development.

Gene-specific fluorescence in-situ hybridization analysis on tissue microarray to refine the region of chromosome 20q amplification in melanoma

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression

Genetic testing in familial melanoma: uptake and implications.

Genetics of Seven Dutch Familial Atypcial Multiple Mole-Menaloma Syndrome Families: A Review of Linkage Results Including Chromosomes 1 and 9

Genetics: what advice for patients who present with a family history of melanoma?

Genome-wide analysis of constitutional DNA methylation in familial melanoma

Genome-wide analysis of gene and protein expression of dysplastic naevus cells

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Genome-wide association study identifies three loci associated with melanoma risk

Genome-wide association study identifies three new melanoma susceptibility loci

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

Genome-wide promoter methylation analysis identifies epigenetic silencing of MAPK13 in primary cutaneous melanoma

Geographical variation in the penetrance of CDKN2A mutations for melanoma

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

Germline TERT promoter mutations are rare in familial melanoma ⬇️

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations

Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

Histologic features of melanoma associated with CDKN2A genotype.

Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds

Homozygous germline mutation of CDKN2A/p16 and glucose-6-phosphate dehydrogenase deficiency in a multiple melanoma case

In-vitro melanoma models: invasive growth is determined by dermal matrix and basement membrane.

Increased C-MYC copy numbers on the background of CDKN2A loss is associated with improved survival in nodular melanoma

Increased Risk of Cancer Other Than Melanoma in CDKN2A Founder Mutation (p16-Leiden)-Positive Melanoma Families

Increased p21-activated kinase-1 expression is associated with invasive potential in uveal melanoma

Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study

Interplay between TERT promoter mutations and methylation culminates in chromatin accessibility and TERT expression

Localization of a novel melanoma susceptibility locus to 1p22

Localization of the 9p Melanoma Susceptibility Locus (MLM) to a 2-cM Region between D9S736 and D9S171

MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project

Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutation

Management of melanoma families

Melanocortin 1 Receptor (MC1R) Gene Variants are Associated with an Increased Risk for Cutaneous Melanoma Which is Largely Independent of Skin Type and Hair Color

Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features

Melanocortin 1 receptor function: shifting gears from determining skin and nevus phenotype to fetal growth

Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

Melanoma risk factors, perceived threat and intentional tanning: an international online survey

Melanoma susceptibility genes

Multiple agminate Spitz naevi

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma