Lista de obras - Anne-Bine Skytte - Dominio Público Uruguay

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.

artículo científico publicado en 2017

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

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

artículo científico publicado en 2015

BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.

artículo científico publicado en 2016

Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

scientific article published on 20 February 2017

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

artículo científico publicado en 2019

Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature

artículo científico publicado en 2018

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

artículo científico publicado en 2018

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2011

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

artículo científico publicado en 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

article

Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant

artículo científico publicado en 2016

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

artículo científico publicado en 2014

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Familial idiopathic pulmonary fibrosis in a young female.

artículo científico publicado en 2018

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

artículo científico publicado en 2016

Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Identification of BRCA1-deficient ovarian cancers.

artículo científico publicado en 2011

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

artículo científico publicado en 2016

Impact of genetic counseling on the uptake of contralateral prophylactic mastectomy among younger women with breast cancer

artículo científico publicado en 2019

Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.

artículo científico publicado en 2015

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

artículo científico publicado en 2015

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families.

artículo científico publicado en 2016

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model

scientific article published on 01 October 2019

Population-based survey of cancer risks in chromosome 3 translocation carriers.

artículo científico publicado en 2010

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

artículo científico publicado en 2014

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

artículo científico publicado en 2015

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene

artículo científico publicado en 2013

[Cowden syndrome can be a challenging diagnosis] ⬇️

[Cowden syndrome diagnosed in patients with macrocephaly]

[Dyskeratosis follicularis] ⬇️

[Molecular genetic screening for polycystic kidney disease can be an important diagnostic tool] ⬇️

scientific article published on 01 January 2014

[Newborn with aplasia cutis caused by epidermolysis bullosa] ⬇️

artículo científico publicado en 2018

Lista de obras de Anne-Bine Skytte

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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

BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.

Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Familial idiopathic pulmonary fibrosis in a young female.

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report

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

Identification of BRCA1-deficient ovarian cancers.

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

Impact of genetic counseling on the uptake of contralateral prophylactic mastectomy among younger women with breast cancer

Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families.

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model

Population-based survey of cancer risks in chromosome 3 translocation carriers.

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene

[Cowden syndrome can be a challenging diagnosis] ⬇️

[Cowden syndrome diagnosed in patients with macrocephaly]

[Dyskeratosis follicularis] ⬇️

[Molecular genetic screening for polycystic kidney disease can be an important diagnostic tool] ⬇️

[Newborn with aplasia cutis caused by epidermolysis bullosa] ⬇️