Works matching IS 13899600 AND DT 2013 AND VI 12
Results: 100
Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia.
- Published in:
- Familial Cancer, 2013, v. 12, n. 4, p. 657, doi. 10.1007/s10689-013-9642-y
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- Article
Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes.
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- Familial Cancer, 2013, v. 12, n. 4, p. 675, doi. 10.1007/s10689-013-9644-9
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- Article
Rectal cancers in patients with familial adenomatous polyposis.
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- Familial Cancer, 2013, v. 12, n. 4, p. 749, doi. 10.1007/s10689-013-9656-5
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- Article
Polymorphisms in arachidonic acid metabolism-related genes and the risk and prognosis of colorectal cancer.
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- Familial Cancer, 2013, v. 12, n. 4, p. 755, doi. 10.1007/s10689-013-9659-2
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- Article
The incidence of <i>PALB2</i> c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.
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- 2013
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- Publication type:
- Letter
Psychosocial consequences of predictive genetic testing for lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study.
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- Familial Cancer, 2013, v. 12, n. 4, p. 639, doi. 10.1007/s10689-013-9628-9
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- Article
Novel and recurrent <i>BRCA1/BRCA2</i> mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
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- Familial Cancer, 2013, v. 12, n. 4, p. 767, doi. 10.1007/s10689-013-9622-2
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- Article
Multivariate analysis of <i>MLH1</i> c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.
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- Familial Cancer, 2013, v. 12, n. 4, p. 741, doi. 10.1007/s10689-013-9652-9
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- Article
Is the psychological impact of genetic testing moderated by support and sharing of test results to family and friends?
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- Familial Cancer, 2013, v. 12, n. 4, p. 601, doi. 10.1007/s10689-013-9621-3
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- Article
Prevalence of <i>HOXB13</i> mutation in a population of Ashkenazi Jewish men treated for prostate cancer.
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- Familial Cancer, 2013, v. 12, n. 4, p. 597, doi. 10.1007/s10689-013-9618-y
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- Article
Case report: metachronous central nervous system desmoid tumours and thyroid carcinoma in a young familial adenomatous polyposis patient.
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- Familial Cancer, 2013, v. 12, n. 4, p. 647, doi. 10.1007/s10689-013-9640-0
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- Publication type:
- Article
The Proceedings of the Collaborative Group of the Americas on Inherited Colorectal Cancer Sheraton Boston Hotel, Boston, Massachusetts, October 27–29, 2012.
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- Familial Cancer, 2013, v. 12, n. 4, p. 779, doi. 10.1007/s10689-012-9592-9
- Publication type:
- Article
Chemoprevention in Lynch syndrome.
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- Familial Cancer, 2013, v. 12, n. 4, p. 707, doi. 10.1007/s10689-013-9650-y
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- Article
Self administered screening for hereditary cancers in conjunction with mammography and ultrasound.
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- Familial Cancer, 2013, v. 12, n. 4, p. 651, doi. 10.1007/s10689-013-9641-z
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- Publication type:
- Article
Interest of individuals from <i>BRCA</i> families to participate in research studies focused on male <i>BRCA</i> carriers.
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- Familial Cancer, 2013, v. 12, n. 4, p. 615, doi. 10.1007/s10689-013-9624-0
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- Article
Do individuals with a family history of colorectal cancer adhere to medical recommendations for the prevention of colorectal cancer?
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- Familial Cancer, 2013, v. 12, n. 4, p. 629, doi. 10.1007/s10689-013-9627-x
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- Publication type:
- Article
Factors affecting the decision to undergo risk-reducing salpingo-oophorectomy among women with <i>BRCA</i> gene mutation.
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- Familial Cancer, 2013, v. 12, n. 4, p. 621, doi. 10.1007/s10689-013-9625-z
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- Article
Underestimated survival predictions of the prognostic tools Adjuvant! Online and PREDICT in BRCA1-associated breast cancer patients.
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- Familial Cancer, 2013, v. 12, n. 4, p. 683, doi. 10.1007/s10689-013-9646-7
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- Publication type:
- Article
Extracolonic cancer risk in patients with serrated polyposis syndrome and their first-degree relatives.
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- Familial Cancer, 2013, v. 12, n. 4, p. 669, doi. 10.1007/s10689-013-9643-x
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- Publication type:
- Article
Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.
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- Familial Cancer, 2013, v. 12, n. 4, p. 691, doi. 10.1007/s10689-013-9647-6
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- Publication type:
- Article
“High rate of recurrent adenomatosis during endoscopic surveillance after duodenectomy in patients with familial adenomatous polyposis”.
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- Familial Cancer, 2013, v. 12, n. 4, p. 699, doi. 10.1007/s10689-013-9648-5
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- Publication type:
- Article
Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
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- Familial Cancer, 2013, v. 12, n. 4, p. 719, doi. 10.1007/s10689-013-9651-x
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- Publication type:
- Article
Frameshift mutation in the <i>PTCH2</i> gene can cause nevoid basal cell carcinoma syndrome.
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- Familial Cancer, 2013, v. 12, n. 4, p. 611, doi. 10.1007/s10689-013-9623-1
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- Article
A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis.
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- Familial Cancer, 2013, v. 12, n. 3, p. 573, doi. 10.1007/s10689-012-9587-6
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- Article
Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients.
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- Familial Cancer, 2013, v. 12, n. 3, p. 503, doi. 10.1007/s10689-012-9595-6
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- Publication type:
- Article
The prognostic value of MGMT promoter methylation in Glioblastoma multiforme: a meta-analysis.
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- Familial Cancer, 2013, v. 12, n. 3, p. 449, doi. 10.1007/s10689-013-9607-1
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- Article
A complex endocrine conundrum.
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- Familial Cancer, 2013, v. 12, n. 3, p. 577, doi. 10.1007/s10689-012-9594-7
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- Article
Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India.
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- Familial Cancer, 2013, v. 12, n. 3, p. 489, doi. 10.1007/s10689-012-9590-y
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- Article
Erratum to: Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.
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- 2013
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- Correction Notice
Birt-Hogg-Dubé syndrome and the skin.
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- Familial Cancer, 2013, v. 12, n. 3, p. 381, doi. 10.1007/s10689-013-9600-8
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- Publication type:
- Article
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
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- Familial Cancer, 2013, v. 12, n. 3, p. 373, doi. 10.1007/s10689-012-9593-8
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- Article
Abstracts.
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- Familial Cancer, 2013, v. 12, n. 3, p. 405, doi. 10.1007/s10689-013-9678-z
- Publication type:
- Article
Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
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- Familial Cancer, 2013, v. 12, n. 3, p. 563, doi. 10.1007/s10689-012-9597-4
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- Article
Erratum to: Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.
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- 2013
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- Correction Notice
Birt-Hogg-Dubé syndrome.
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- Familial Cancer, 2013, v. 12, n. 3, p. 355, doi. 10.1007/s10689-013-9679-y
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- Publication type:
- Article
Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green.
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- Familial Cancer, 2013, v. 12, n. 3, p. 519, doi. 10.1007/s10689-013-9606-2
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- Article
Splice site mutations in mismatch repair genes and risk of cancer in the general population.
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- Familial Cancer, 2013, v. 12, n. 3, p. 567, doi. 10.1007/s10689-013-9601-7
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- Publication type:
- Article
Erratum to: Closing the loop: an interactive action research conference format for delivering updated medical information while eliciting Latina patient/family experiences and psychosocial needs post-genetic cancer risk assessment.
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- 2013
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- Publication type:
- Correction Notice
Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.
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- Familial Cancer, 2013, v. 12, n. 3, p. 555, doi. 10.1007/s10689-013-9617-z
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- Publication type:
- Article
Erratum to: Birt-Hogg-Dubé: beyond the clinical manifestations.
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- 2013
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- Publication type:
- Correction Notice
Body image issues after bilateral prophylactic mastectomy with breast reconstruction in healthy women at risk for hereditary breast cancer.
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- Familial Cancer, 2013, v. 12, n. 3, p. 479, doi. 10.1007/s10689-012-9588-5
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- Publication type:
- Article
Mutation screen and RNA analysis disclose the changed splicing of the E-cadherin transcription in gastric cancer.
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- Familial Cancer, 2013, v. 12, n. 3, p. 547, doi. 10.1007/s10689-013-9619-x
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- Publication type:
- Article
Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.
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- Familial Cancer, 2013, v. 12, n. 3, p. 357, doi. 10.1007/s10689-012-9574-y
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- Publication type:
- Article
Unmet support needs and distress among women with a BRCA1/ 2 mutation.
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- Familial Cancer, 2013, v. 12, n. 3, p. 509, doi. 10.1007/s10689-012-9596-5
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- Publication type:
- Article
Mutation screening in a Norwegian cohort with pheochromocytoma.
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- Familial Cancer, 2013, v. 12, n. 3, p. 529, doi. 10.1007/s10689-013-9608-0
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- Publication type:
- Article
Preparing individuals to communicate genetic test results to their relatives: report of a randomized control trial.
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- Familial Cancer, 2013, v. 12, n. 3, p. 537, doi. 10.1007/s10689-013-9609-z
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- Publication type:
- Article
GNAS is not involved in gastrointestinal tumour formation in Peutz-Jeghers syndrome.
- Published in:
- 2013
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- Publication type:
- Letter
Familial adenomatous polyposis: not all masses are desmoids.
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- Familial Cancer, 2013, v. 12, n. 3, p. 525, doi. 10.1007/s10689-012-9580-0
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- Publication type:
- Article
The risk of gastric cancer in carriers of CHEK2 mutations.
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- Familial Cancer, 2013, v. 12, n. 3, p. 473, doi. 10.1007/s10689-012-9599-2
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- Publication type:
- Article
Birt-Hogg-Dubé: tumour suppressor function and signalling dynamics central to folliculin.
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- Familial Cancer, 2013, v. 12, n. 3, p. 367, doi. 10.1007/s10689-012-9576-9
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- Publication type:
- Article