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Lista de obras de Noralane Lindor

14th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer Dallas, TX, USA. 12-13 October 2010. Abstracts

artículo científico publicado en 2011

A New Comprehensive Colorectal Cancer Risk Prediction Model Incorporating Family History, Personal Characteristics, and Environmental Factors

artículo científico publicado en 2020

A Novel Mutation of LAMB2 in a Multigenerational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome ⬇️

artículo científico publicado el 13 de enero de 2011

A Population-Based Study of Prevalence and Adherence Trends in Average Risk Colorectal Cancer Screening, 1997 to 2008 ⬇️

artículo científico publicado el 5 de diciembre de 2011

A case of Down syndrome with mirror-image duplication of chromosome 21

artículo científico publicado en 2010

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

artículo científico publicado en 2012

A combined proteomics and Mendelian randomization approach to investigate the effects of aspirin-targeted proteins on colorectal cancer

artículo científico publicado en 2020

A general framework for functionally informed set-based analysis: Application to a large-scale colorectal cancer study

artículo científico publicado en 2020

A genetic review of complete and partial hydatidiform moles and nonmolar triploidy

artículo científico publicado el 1 de agosto de 1992

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.

artículo científico publicado en 2015

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

artículo científico publicado en 2014

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

artículo científico publicado en 2012

A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: 'Primrose syndrome'.

artículo científico publicado en 1996

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

artículo científico publicado en 2015

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

A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study

artículo científico publicado en 2014

A pooled analysis of smoking and colorectal cancer: timing of exposure and interactions with environmental factors

artículo científico publicado en 2012

A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study

artículo científico publicado en 2015

A randomized trial to increase colonoscopy screening in members of high-risk families in the colorectal cancer family registry and cancer genetics network

scientific article published on 05 February 2014

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

artículo científico publicado en 2011

A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair

artículo científico publicado en 2001

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

artículo científico publicado en 2007

Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history

scientific article published on 01 October 2019

Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy

artículo científico publicado en 1993

Abstract 4831: Additive and multiplicative gene-environment interactions for colorectal cancer risk

article

Abstract LB-276: Prospective study of body mass index and adult weight change with colorectal cancer survival, overall and by tumor microsatellite instability status

Abstract LB-282: Transethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A

article

Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers

artículo científico publicado en 2016

Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry

artículo científico publicado en 2009

Alpha1-antitrypsin deficiency allele carriers among lung cancer patients

artículo científico publicado en 1999

Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes

artículo científico publicado en 1996

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers

artículo científico publicado en 2014

American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.

artículo científico publicado en 2015

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders

artículo científico

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

artículo científico publicado en 2014

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

artículo científico publicado en 2013

Ascending the learning curve--MSI testing experience of a six-laboratory consortium

artículo científico publicado en 2006

Aspirin, Ibuprofen, and the Risk of Colorectal Cancer in Lynch Syndrome

artículo científico publicado en 2015

Asplenia in two father-son pairs

artículo científico publicado en 1995

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

artículo científico publicado en 2015

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

artículo científico publicado en 2018

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

artículo científico publicado en 2019

Association between body mass index and mortality for colorectal cancer survivors: overall and by tumor molecular phenotype

artículo científico publicado en 2015

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

artículo científico publicado en 2012

Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

artículo científico publicado en 2016

Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants

artículo científico publicado en 2015

Association of the colorectal CpG island methylator phenotype with molecular features, risk factors, and family history

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

Attitudes Toward Return of Genetic Research Results to Relatives, Including After Death: Comparison of Cancer Probands, Blood Relatives, and Spouse/Partners

artículo científico publicado en 2018

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7

artículo científico publicado en 1993

BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management ⬇️

artículo científico publicado el 24 de abril de 2013

Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2 ⬇️

artículo científico publicado el 15 de marzo de 2011

Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome

artículo científico publicado en 2003

Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors ⬇️

artículo científico publicado el 10 de octubre de 2012

Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes

artículo científico publicado en 2011

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers

artículo científico publicado en 2011

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

artículo científico publicado en 2012

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk

artículo científico publicado en 2016

Cancer Risks for PMS2-Associated Lynch Syndrome

artículo científico publicado en 2018

Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome

artículo científico publicado en 2014

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Cancer risks for MLH1 and MSH2 mutation carriers

artículo científico publicado en 2013

Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Care of patients and their families with familial adenomatous polyposis

artículo científico publicado en 2000

Case-control study of overweight, obesity, and colorectal cancer risk, overall and by tumor microsatellite instability status

artículo científico publicado en 2010

Cerebrovascular Consequences of Pseudohyperaldosteronism ⬇️

artículo científico publicado el 3 de mayo de 2012

Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study

scientific article published on 04 May 2020

Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer

artículo científico publicado en 2014

Childhood cancers in families with and without Lynch syndrome

artículo científico publicado en 2015

Cholecystectomy and the risk of colorectal cancer by tumor mismatch repair deficiency status.

artículo científico publicado en 2016

Chronic intestinal pseudoobstruction associated with altered interstitial cells of cajal networks

artículo científico publicado en 2003

Chronic tibial nonunion in a Rothmund–Thomson syndrome patient ⬇️

artículo científico publicado el 20 de julio de 2012

Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

scientific article published on 03 September 2020

Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two nonmosaic daughters ⬇️

artículo científico publicado el 1 de julio de 1998

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status

artículo científico publicado en 2014

Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry

artículo científico publicado en 2017

Clinicopathologic Risk Factor Distributions for MLH1 Promoter Region Methylation in CIMP-Positive Tumors.

artículo científico publicado en 2015

Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC)

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer

artículo científico publicado en 2007

Colon and rectal cancer survival by tumor location and microsatellite instability: the Colon Cancer Family Registry.

artículo científico publicado en 2013

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

artículo científico publicado en 2012

Colorectal cancer and self-reported tooth agenesis.

scientific article published on 10 March 2014

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

artículo científico publicado en 2012

Colorectal cancer risks in relatives of young-onset cases: is risk the same across all first-degree relatives?

artículo científico publicado en 2007

Colorectal tumour microsatellite instability test results: perspectives from patients

artículo científico publicado en 2004

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

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 genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

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

Communication of genetic test results to family and health-care providers following disclosure of research results

artículo científico publicado en 2013

Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.

artículo científico publicado en 2015

Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer

artículo científico publicado en 2012

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

artículo científico publicado en 2018

Concise handbook of familial cancer susceptibility syndromes - second edition

scientific article published on 01 January 2008

Confirmation of existence of a new syndrome: LAPS syndrome

artículo científico publicado en 2002

Confirmation of linkage to and localization of familial colon cancer risk haplotype on chromosome 9q22.

artículo científico publicado en 2010

Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

artículo científico publicado en 2006

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

artículo científico publicado en 2020

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer

artículo científico publicado en 2005

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

scientific article published on 01 July 2019

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

artículo científico publicado en 2020

Correction: Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22.

artículo científico publicado en 2012

Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

scientific article published on 19 December 2019

Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients

artículo científico publicado en 2019

Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter-->Xq13.

artículo científico publicado en 1996

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

artículo científico publicado en 2014

DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome

article

DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

scientific article published on 04 July 2019

De novo 16p deletion: ATR-16 syndrome ⬇️

artículo científico publicado el 12 de noviembre de 1997

Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

artículo científico publicado en 2013

Desmoid tumors -- a characterization of patients seen at Mayo Clinic 1976-1999.

artículo científico publicado en 2006

Desmoid tumors in familial adenomatous polyposis: a pilot project evaluating efficacy of treatment with pirfenidone

artículo científico publicado en 2003

Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

artículo científico publicado en 2013

Determining the familial risk distribution of colorectal cancer: a data mining approach.

artículo científico publicado en 2015

Determining the frequency of de novo germline mutations in DNA mismatch repair genes

artículo científico publicado en 2011

Developing a Process for Returning Medically Actionable Genomic Variants to Latino Patients in a Federally Qualified Health Center

artículo científico publicado en 2018

Disclosing genetic research results: experiences of the Colon Cancer Family Registry

artículo científico publicado en 2011

Discovery of common and rare genetic risk variants for colorectal cancer

artículo científico publicado en 2018

Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?

artículo científico publicado en 2020

Does risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair gene depend on family history of endometrial cancer or colorectal cancer?

artículo científico publicado en 2014

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer

artículo científico publicado en 1999

Eight novel polymorphisms in the dystrophin gene of African-Americans: the rate of polymorphism is high

artículo científico publicado en 1993

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

artículo científico publicado en 2015

Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes

artículo científico publicado en 2016

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

artículo científico publicado en 2009

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

artículo científico publicado en 2011

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2010

Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group

artículo científico publicado en 2018

Exploratory genome-wide interaction analysis of non-steroidal anti-inflammatory drugs and predicted gene expression on colorectal cancer risk

artículo científico publicado en 2020

Factors associated with type I and type II endometrial cancers in women with a germ-line mutation in a mismatch repair gene

artículo científico publicado en 2011

Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case

artículo científico publicado en 2005

Familial chordoma with probable autosomal dominant inheritance ⬇️

artículo científico publicado el 23 de enero de 1998

Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome

artículo científico publicado en 2009

Familial predisposition for colorectal cancer in chronic ulcerative colitis: A case-control study ⬇️

artículo científico publicado el 1 de noviembre de 1998

Familial trigeminal neuralgia and contralateral hemifacial spasm

artículo científico publicado en 1999

Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases

artículo científico publicado en 2013

Family history of colorectal cancer is not associated with colorectal cancer survival regardless of microsatellite instability status

artículo científico publicado en 2014

Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome

artículo científico publicado en 2015

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Form of 15q proximal duplication appears to be a normal euchromatic variant

artículo científico publicado en 1994

Fragile X syndrome due to a missense mutation

artículo científico publicado en 2014

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases

artículo científico publicado en 2010

Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age

artículo científico publicado en 2003

From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals

artículo científico publicado en 2017

Functional informed genome-wide interaction analysis of body mass index, diabetes and colorectal cancer risk

artículo científico publicado en 2020

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome

artículo científico publicado en 2011

Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing

artículo científico publicado en 2015

Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies

artículo científico publicado en 2018

Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry

artículo científico publicado en 2005

Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance

artículo científico publicado en 1997

Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II.

artículo científico publicado en 1995

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genetic variants in the cell cycle control pathways contribute to early onset colorectal cancer in Lynch syndrome

artículo científico publicado en 2009

Genetic variation in prostaglandin synthesis and related pathways, NSAID use and colorectal cancer risk in the Colon Cancer Family Registry

artículo científico publicado en 2014

Genetic variation in the inflammation and innate immunity pathways and colorectal cancer risk

artículo científico publicado en 2013

Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry

artículo científico publicado en 2013

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

artículo científico publicado en 2016

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

scientific article published on 29 July 2020

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

artículo científico publicado en 2013

Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome

Genomic medicine and incidental findings: balancing actionability and patient autonomy

article

Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?

artículo científico publicado en 2001

Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study

artículo científico publicado en 2008

Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome

artículo científico publicado en 2010

Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry

artículo científico publicado en 2015

Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant melanoma

artículo científico publicado en 2008

Germline miRNA DNA variants and the risk of colorectal cancer by subtype.

artículo científico publicado en 2016

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

artículo científico publicado en 2016

Guidelines for buccal smear collection in breast-fed infants

artículo científico publicado en 1999

Height and Colorectal and Endometrial Cancer Risk for Persons with Lynch Syndrome

scientific article published on 17 August 2020

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond

artículo científico publicado en 2015

Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders

artículo científico publicado en 2009

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

artículo científico publicado en 1999

Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis

scientific article published on 01 June 2010

Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes

artículo científico publicado en 2012

Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families ⬇️

artículo científico publicado el 1 de agosto de 2011

Heterozygous Niemann-Pick disease type C presenting with tremor

artículo científico publicado en 2004

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

artículo científico publicado en 2014

Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancer

scientific article published on 01 April 2007

Higher risk of mismatch repair-deficient colorectal cancer in alpha(1)-antitrypsin deficiency carriers and cigarette smokers

artículo científico publicado en 2000

How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry

artículo científico publicado en 2013

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples

artículo científico publicado en 2015

Human Genetic Disorders

Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer

artículo científico publicado en 2010

Identification and validation of an anthracycline/cyclophosphamide-based chemotherapy response assay in breast cancer

scientific article published on January 2014

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

artículo científico publicado en 2012

Identification of Lynch syndrome among patients with colorectal cancer

artículo científico publicado en 2012

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

artículo científico publicado en 2015

Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry

artículo científico publicado en 2012

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of novel variants in colorectal cancer families by high-throughput exome sequencing

artículo científico publicado en 2013

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

artículo científico publicado en 2014

Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects

artículo científico publicado en 2020

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry

artículo científico publicado en 2012

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors

artículo científico publicado en 2002

Implementing individualized medicine into the medical practice

artículo científico publicado en 2014

Increased Risk for Cancer in Patients with the Peutz-Jeghers Syndrome

artículo científico publicado el 1 de junio de 1998

Increased cancer risks in myotonic dystrophy.

artículo científico publicado en 2012

Initial assessment of infants and children with suspected inborn errors of metabolism

artículo científico publicado en 1995

Integrated analysis of genome-wide copy number alterations and gene expression in microsatellite stable, CpG island methylator phenotype-negative colon cancer

artículo científico publicado en 2013

Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations ⬇️

artículo científico publicado en 2018

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

artículo científico publicado en 2011

Is colorectal surveillance indicated in patients with PTEN mutations?

artículo científico publicado en 2012

Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation

artículo científico publicado en 2005

KRAS-mutation status in relation to colorectal cancer survival: the joint impact of correlated tumour markers

artículo científico publicado en 2013

Knowledge and Uptake of Genetic Counseling and Colonoscopic Screening Among Individuals at Increased Risk for Lynch Syndrome and their Endoscopists from the Family Health Promotion Project

artículo científico publicado en 2016

LAPS syndrome and Myhre syndrome: two disorders or one?

artículo científico publicado en 2009

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease

artículo científico publicado en 2004

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

scientific article published on 28 February 2019

Left ventricular noncompaction cardiomyopathy: what do we know?

artículo científico publicado en 2010

Leptin gene variants and colorectal cancer risk: Sex-specific associations

artículo científico publicado en 2018

Long-term weight loss after colorectal cancer diagnosis is associated with lower survival: The Colon Cancer Family Registry

artículo científico

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.

artículo científico publicado en 2004

Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X

artículo científico publicado en 2005

Lower gastrointestinal tract cancer predisposition syndromes

artículo científico publicado en 2010

Lynch syndrome 101 (years, that is).

artículo científico

Lynch syndrome and MYH-associated polyposis: review and testing strategy.

artículo científico publicado en 2011

Lynch syndrome and cervical cancer

artículo científico publicado en 2015

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry

artículo científico publicado en 2010

MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps

artículo científico publicado en 2004

Making a case for surveillance colonoscopy in Lynch syndrome

artículo científico publicado en 2009

Maternal cell contamination of buccal smear samples in nursing neonates ⬇️

artículo científico publicado el 1 de febrero de 1998

Melorheostosis in a patient with familial osteopoikilosis ⬇️

artículo científico publicado el 3 de octubre de 1997

Mendelian Randomization Study of Body Mass Index and Colorectal Cancer Risk

artículo científico publicado en 2015

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

artículo científico publicado en 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

artículo científico publicado en 2017

Mendelian randomization study of height and risk of colorectal cancer

artículo científico publicado en 2015

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

artículo científico publicado en 2015

Meta-analysis of new genome-wide association studies of colorectal cancer risk

artículo científico publicado en 2011

Metachronous colon cancer risk following surgery for first primary rectal cancer in Lynch syndrome

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery

artículo científico publicado en 2010

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

artículo científico publicado en 2003

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer

artículo científico publicado en 1996

Mitomycin C chromosome stress test to identify hypersensitivity to bifunctional alkylating agents in patients with Fanconi anemia or aplastic anemia

artículo científico

Molecular Biomarkers for the Evaluation of Colorectal Cancer.

artículo científico publicado en 2017

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.

artículo científico publicado en 2017

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.

artículo científico publicado en 2017

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and the American Society of Clinical Oncology.

artículo científico publicado en 2017

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline Summary From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.

artículo científico publicado en 2017

Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening

artículo científico publicado en 2008

Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16

scientific article published on 01 October 1993

Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations ⬇️

artículo científico publicado el 1 de diciembre de 2012

Multiple primary tumors associated with chromosome 9p deletion

scientific article published on 01 January 2007

Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome

artículo científico publicado en 2016

Mutation screening of RAD51C in high-risk breast and ovarian cancer families ⬇️

artículo científico publicado el 1 de septiembre de 2012

Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

scientific journal article

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

artículo científico publicado en 1999

Mutations in the RET protooncogene in sporadic pheochromocytomas

artículo científico publicado en 1995

Mutations of SMAD4 account for both LAPS and Myhre syndromes ⬇️

artículo científico publicado el 14 de mayo de 2012

Myhre Syndrome

Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions

artículo científico

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study

artículo científico publicado en 2021

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

Non-BRCA familial breast cancer: review of reported pathology and molecular findings

artículo científico publicado en 2017

Nonmosaic smallest duplication of 12q24.31-qter: the first reported case

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

artículo científico publicado en 2019

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

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

PMS2 monoallelic mutation carriers: the known unknown

artículo científico publicado en 2016

Pancreatic cancer and a novel MSH2 germline alteration

artículo científico publicado en 2011

Papillary renal cell carcinoma: analysis of germline mutations in the MET proto-oncogene in a clinic-based population

artículo científico publicado en 2001

Parent of origin effects on age at colorectal cancer diagnosis

artículo científico publicado en 2010

Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study

artículo científico publicado en 2007

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2011

Pelvic primitive neuroectodermal tumor associated with a cluster of small round cell tumors: case report and review of current literature☆ ⬇️

artículo científico publicado el 1 de octubre de 2003

Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

artículo científico publicado en 2012

Phase II trial of pirfenidone in adults with neurofibromatosis type 1

scientific article published on 11 October 2006

Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

artículo científico publicado en 2020

Physical activity and the risk of colorectal cancer in Lynch syndrome

scientific article published on 07 August 2018

Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia

artículo científico publicado en 2013

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

artículo científico publicado en 2016

Potential impact of family history-based screening guidelines on the detection of early-onset colorectal cancer

scientific article published on 20 April 2020

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants

scientific article published on 27 March 2018

Prediagnostic Physical Activity and Colorectal Cancer Survival: Overall and Stratified by Tumor Characteristics.

artículo científico publicado en 2015

Prediagnostic alcohol consumption and colorectal cancer survival: The Colon Cancer Family Registry.

artículo científico publicado en 2016

Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models

artículo científico publicado en 2007

Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study

artículo científico publicado en 2010

Prediction of germline mutations and cancer risk in the Lynch syndrome

artículo científico publicado en 2006

Preferences Regarding Return of Genomic Results to Relatives of Research Participants, Including after Participant Death: Empirical Results from a Cancer Biobank

artículo científico publicado en 2015

Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia

artículo científico publicado en 2008

Preserving personal autonomy in a genomic testing era ⬇️

artículo científico publicado el 1 de mayo de 2013

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

artículo científico publicado en 2016

Prevalence of Alterations in DNA Mismatch Repair Genes in Patients With Young-Onset Colorectal Cancer ⬇️

artículo científico publicado el 5 de noviembre de 2010

Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and review

artículo científico publicado en 2011

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

artículo científico publicado en 2017

Prophylactic and Therapeutic Mastectomy in BRCA Mutation Carriers: Can the Nipple Be Preserved? ⬇️

artículo científico publicado el 27 de septiembre de 2011

Public perceptions of disease severity but not actionability correlate with interest in receiving genomic results: nonalignment with current trends in practice

artículo científico publicado en 2015

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry

artículo científico publicado en 2011

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.

artículo científico publicado en 2012

Ready reference to common segmental aneusomies by syndromic names, major features and chromosomal locations

scientific article published on 01 January 2008

Receptivity and Preferences in Cancer Risk Reduction Lifestyle Programs: A Survey of Colorectal Cancer Family Members

artículo científico publicado en 2013

Recognition of genetic syndromes in families with suspected hereditary colon cancer syndromes

artículo científico publicado en 2004

Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review

artículo científico publicado en 2006

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

artículo científico publicado en 2014

Response to ten Broeke and Nielsen

artículo científico publicado en 2015

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

artículo científico publicado en 2012

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

artículo científico publicado en 2020

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

artículo científico publicado en 2015

Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health

scientific article published on 06 May 2020

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability ⬇️

artículo científico publicado en 2004

Risk factors for metachronous colorectal cancer following a primary colorectal cancer: A prospective cohort study.

artículo científico publicado en 2016

Risk of breast cancer in Lynch syndrome: a systematic review.

artículo científico publicado en 2013

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

artículo científico publicado en 2014

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

artículo científico publicado en 2015

Risk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinoma

artículo científico publicado en 2010

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

artículo científico publicado en 2016

Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers

artículo científico publicado en 2013

Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer.

artículo científico publicado en 2016

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2020

Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families

artículo científico publicado en 2018

Risks of Lynch syndrome cancers for MSH6 mutation carriers

artículo científico publicado en 2009

Risks of cancers for carriers of monoallelic MUTYH mutation with a family history of colorectal cancer

artículo científico publicado en 2011

Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome

artículo científico publicado en 2013

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

artículo científico publicado en 2012

Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives

artículo científico publicado en 2014

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

artículo científico publicado en 2000

Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism

scientific article published on 01 March 1996

Sanfilippo syndrome type A in two adult sibs

artículo científico publicado en 1994

Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics

scientific article published on 01 March 1994

Search for Chromosome Instability in Lymphocytes with Germ-Line Mutations in DNA Mismatch Repair Genes ⬇️

artículo científico publicado el 1 de julio de 1998

Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome

artículo científico publicado en 2005

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

scientific article published on 10 July 2016

Slender bone dysplasia (gracile).

artículo científico publicado en 2008

Smoking and colorectal cancer in Lynch syndrome: results from the Colon Cancer Family Registry and the University of Texas M.D. Anderson Cancer Center

artículo científico publicado en 2010

Substantial unexplained variation in cancer risks for MLH1 and MSH2 mutation carriers.

artículo científico publicado en 2012

Survival after inflammatory bowel disease-associated colorectal cancer in the Colon Cancer Family Registry

artículo científico publicado en 2013

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

scientific article published on 14 October 2019

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

artículo científico publicado en 2017

Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

artículo científico publicado en 2017

Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome

scientific article published on 01 May 2005

The APC E1317Q variant in adenomatous polyps and colorectal cancers.

artículo científico publicado en 2003

The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors ⬇️

artículo científico publicado el 13 de marzo de 2012

The Mayo Clinic Biobank: a building block for individualized medicine

artículo científico publicado en 2013

The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history

artículo científico publicado en 2010

The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results

artículo científico publicado en 2018

The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2016

The association of tumor microsatellite instability phenotype with family history of colorectal cancer

artículo científico publicado en 2009

The challenges of finding the gene responsible for a rare, autosomal dominant gastric cancer susceptibility syndrome

article

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

artículo científico publicado en 2008

The concise handbook of family cancer syndromes. Mayo Familial Cancer Program.

artículo científico publicado en 1998

The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience

artículo científico publicado en 2005

Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome ⬇️

artículo científico publicado el 1 de junio de 2011

Timing of Aspirin and Other Nonsteroidal Anti-Inflammatory Drug Use Among Patients With Colorectal Cancer in Relation to Tumor Markers and Survival

artículo científico publicado en 2017

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Trisomy 9 mosaicism in a child with a tethered cord

artículo científico publicado el 1 de abril de 1995

Tumor suppressor p53 represses transcription of RECQ4 helicase

artículo científico publicado en 2005

Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome

scientific article published on 25 September 2019

Unilateral Lisch nodules in the absence of other features of neurofibromatosis 1

scientific article published on 01 April 2003

Uniparental disomy in congenital disorders: a prospective study

artículo científico publicado en 1995

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2021

Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family Registry

artículo científico publicado en 2007

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

artículo científico publicado en 2016

Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: another ophthalmologic complication

artículo científico publicado en 1998

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.

artículo científico publicado en 2015

Whole-Genome Sequencing in Healthy People

artículo científico publicado en 2017

Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects

artículo científico publicado el 1 de septiembre de 1992

p73 mutations are not detected in sporadic and hereditary breast cancer

scientific article published on 01 November 1999

von Hippel-Lindau disease

artículo científico publicado en 2000

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