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"I Don't Want to Be an Ostrich": Managing Mothers' Uncertainty during BRCA1/2 Genetic Counseling

artículo científico publicado en 2016

A636P is associated with early-onset colon cancer in Ashkenazi Jews.

artículo científico publicado en 2003

A636P testing in Ashkenazi Jews

artículo científico publicado en 2004

Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families

artículo científico publicado en 2014

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

artículo científico

Counseling and Testing for Inherited Predisposition to Cancer

Development of patient "profiles" to tailor counseling for incidental genomic sequencing results

artículo científico publicado en 2019

Educational and Psychosocial Support Needs in Lynch Syndrome: Implementation and Assessment of an Educational Workshop and Support Group

artículo científico publicado en 2016

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

scientific article published on 11 December 2019

Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial

artículo científico publicado en 2018

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing

scholarly article

Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial

scientific article published on 07 October 2019

High glucose alters the response of mesangial cell protein kinase C isoforms to endothelin-1.

artículo científico publicado en 1999

High glucose-induced mesangial cell altered contractility: role of the polyol pathway.

artículo científico publicado en 1998

Increased frequency of disease-causing MYH mutations in colon cancer families

artículo científico publicado en 2006

MP36-06 UTILITY OF PROSPECTIVE PATHOLOGIC EVALUATION TO INFORM CLINICAL GENETIC TESTING FOR HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CARCINOMA

MSH6 germline mutations are rare in colorectal cancer families.

artículo científico publicado en 2003

Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes

artículo científico publicado en 2015

PARC report: a health-systems focus on reimbursement and patient access to pharmacogenomics testing

artículo científico publicado en 2020

PARC report: a perspective on the state of clinical pharmacogenomics testing

artículo científico publicado en 2020

PD10-05 OUTCOME OF GENETIC EVALUATION OF KIDNEY CANCER PATIENTS REFERRED FOR SUSPECTED HEREDITARY CANCER SYNDROMES

Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia

artículo científico publicado en 2004

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.

artículo científico publicado en 2014

Prospective Immunohistochemical Analysis of Primary Colorectal Cancers for Loss of Mismatch Repair Protein Expression

artículo científico publicado el 1 de octubre de 2010

Quality of life drives patients' preferences for secondary findings from genomic sequencing

scientific article published on 18 May 2020

Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management

artículo científico publicado en 2007

Sources of uncertainty about daughters' breast cancer risk that emerge during genetic counseling consultations.

artículo científico publicado en 2011

Talking about familial breast cancer risk: topics and strategies to enhance mother-daughter interactions.

artículo científico publicado en 2014

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma

artículo científico publicado en 2017

“I don’t need any more unknowns hanging over my head”: Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing