Search Results - "Rubinstein, WS"
-
1
Effect of a Computer-Based Decision Aid on Knowledge, Perceptions, and Intentions About Genetic Testing for Breast Cancer Susceptibility: A Randomized Controlled Trial
Published in JAMA : the journal of the American Medical Association (28-07-2004)“…CONTEXT As the availability of and demand for genetic testing for hereditary cancers increases in primary care and other clinical settings, alternative or…”
Get full text
Journal Article -
2
Hereditary Diffuse Gastric Cancer : Diagnosis, Genetic Counseling, and Prophylactic Total Gastrectomy
Published in Cancer (15-06-2008)“…A subset of patients with diffuse gastric cancer harbor deleterious cancer-causing germline mutations in the type 1 E-cadherin (epithelial) gene (CDH1), which…”
Get full text
Journal Article -
3
BRCAPRO Validation, Sensitivity of Genetic Testing of BRCA1/BRCA2, and Prevalence of Other Breast Cancer Susceptibility Genes
Published in Journal of clinical oncology (01-06-2002)“…To compare genetic test results for deleterious mutations of BRCA1 and BRCA2 with estimated probabilities of carrying such mutations; to assess sensitivity of…”
Get full text
Journal Article -
4
Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Published in Science (American Association for the Advancement of Science) (04-02-2000)“…Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the…”
Get full text
Journal Article -
5
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
Published in Journal of medical genetics (01-03-2002)“…Background: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations…”
Get full text
Journal Article -
6
Surgical management of BRCA1 and BRCA2 carriers: bitter choices slightly sweetened
Published in Journal of clinical oncology (01-11-2005)Get full text
Journal Article -
7
TGFBR16A and Cancer Risk: A Meta-Analysis of Seven Case-Control Studies
Published in Journal of clinical oncology (01-09-2003)“…TGFBR1*6A is a hypomorphic polymorphic allele of the type I transforming growth factor beta receptor (TGFBR1). TGFBR1*6A is a candidate tumor susceptibility…”
Get full text
Journal Article -
8
Use of an educational computer program before genetic counseling for breast cancer susceptibility: Effects on duration and content of counseling sessions
Published in Genetics in medicine (01-04-2005)“…Patients seeking genetic testing for inherited breast cancer risk are typically educated by genetic counselors; however, the growing demand for cancer genetic…”
Get full text
Journal Article -
9
Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC‐like families: Problems in diagnosis, surveillance, and management
Published in Cancer (01-01-2004)“…BACKGROUND To the authors' knowledge, hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most commonly occurring hereditary disorder that predisposes…”
Get full text
Journal Article -
10
Phenotypic dichotomy in mitochondrial complex II genetic disorders
Published in Journal of molecular medicine (Berlin, Germany) (01-09-2001)“…This review presents our current knowledge on the genetic and phenotypic aspects of mitochondrial complex II gene defects. The mutations of the complex II…”
Get full text
Journal Article -
11
Hereditary Breast-Ovarian Cancer at the Bedside: Role of the Medical Oncologist
Published in Journal of clinical oncology (15-02-2003)“…To provide practical considerations for diagnosing, counseling, and managing patients at high risk for hereditary breast cancer. We have studied 98 extended…”
Get full text
Journal Article -
12
Proportion of Heritable Paraganglioma Cases and Associated Clinical Characteristics
Published in The Laryngoscope (01-10-2001)“…Objective/Hypothesis To determine the heritable proportion of paraganglioma (PGL) and identify clinical features associated with heritable PGL. Study Design…”
Get full text
Journal Article -
13
Transplantation of human hepatocytes
Published in Transplantation proceedings (01-06-1997)Get full text
Journal Article -
14
Prophylactic Mastectomy: Obstacles and Benefits
Published in JNCI : Journal of the National Cancer Institute (07-11-2001)“…Onlytime will tell!REFERENCES(1) Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL,et al. Efficacyof bilateral prophylactic mastectomyin…”
Get full text
Journal Article -
15
Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23
Published in American journal of human genetics (1997)“…Hereditary nonchromaffin paragangliomas (PGL; glomus tumors; MIM 168000) are mostly benign, slow-growing tumors of the head and neck region, inherited from…”
Get full text
Journal Article -
16
Repositioning the hereditary paraganglioma critical region on chromosome band 11q23
Published in Human genetics (01-03-1999)“…Hereditary paragangliomas (PGL, glomus tumors, MIM no.168000) are mostly benign, slow-growing tumors of the head and neck region. The gene (or genes) affecting…”
Get full text
Journal Article -
17
Computer-Based Genetic Counseling
Published in JAMA : the journal of the American Medical Association (10-11-1999)Get full text
Journal Article -
18
Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes
Published in BMC medical genetics (14-06-2005)“…Screening mammography has had a positive impact on breast cancer mortality but cannot detect all breast tumors. In a small study, we confirmed that low power…”
Get full text
Journal Article -
19
The Genetics of Sudden Death
Published in JAMA : the journal of the American Medical Association (03-10-2001)“…Rubinstein and Lopez-Soler explore the heterogeneous genetic causes of sudden cardiac death (SCD). If genetic etiology plays an important role in SCD due to…”
Get full text
Journal Article -
20
A 'Normal' Practice
Published in JAMA : the journal of the American Medical Association (15-10-1997)“…Rubinstein defends the "normalcy" of practicing medical genetics…”
Get full text
Journal Article