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Mutiple DICER1-related lesions associated with a germline deep intronic mutation.
- Published in:
- 2018
- By:
- Publication type:
- journal article
How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis.
- Published in:
- Psycho-Oncology, 2020, v. 29, n. 3, p. 550, doi. 10.1002/pon.5302
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- Publication type:
- Article
Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France.
- Published in:
- 2019
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- Publication type:
- journal article
Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors.
- Published in:
- Genes, Chromosomes & Cancer, 2008, v. 47, n. 3, p. 247, doi. 10.1002/gcc.20526
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- Publication type:
- Article
Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
- Published in:
- Movement Disorders, 2013, v. 28, n. 13, p. 1897, doi. 10.1002/mds.25487
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- Publication type:
- Article
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 119, doi. 10.1007/s00439-005-1297-9
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- Publication type:
- Article
Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing.
- Published in:
- 2003
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- Publication type:
- journal article
IMPACT OF GENE PATENTS ON THE COST-EFFECTIVE DELIVERY OF CARE: THE CASE OF BRCA1 GENETIC TESTING.
- Published in:
- International Journal of Technology Assessment in Health Care, 2003, v. 19, n. 2, p. 287, doi. 10.1017/S0266462303000266
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- Publication type:
- Article
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.
- Published in:
- Oncogene, 2002, v. 21, n. 44, p. 6841, doi. 10.1038/sj.onc.1205685
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- Publication type:
- Article
A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining.
- Published in:
- Oncogene, 2002, v. 21, n. 9, p. 1401, doi. 10.1038/sj.onc.1205200
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- Publication type:
- Article
Genome instability in secondary solid tumors developing after radiotherapy of bilateral retinoblastoma.
- Published in:
- Oncogene, 2001, v. 20, n. 56, p. 8092
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- Publication type:
- Article
Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors.
- Published in:
- International Journal of Cancer, 2002, v. 99, n. 4, p. 619, doi. 10.1002/ijc.10367
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- Publication type:
- Article
Cancer risk in heterozygotes for ataxia-telangiectasia.
- Published in:
- International Journal of Cancer, 2001, v. 93, n. 2, p. 288, doi. 10.1002/ijc.1329
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- Publication type:
- Article
Germline brca2 sequence variants in patients with ocular melanoma.
- Published in:
- International Journal of Cancer, 1999, v. 82, n. 3, p. 325, doi. 10.1002/(SICI)1097-0215(19990730)82:3<325::AID-IJC3>3.0.CO;2-G
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- Publication type:
- Article
No evidence for germline PTEN mutations in families with breast and brain tumours.
- Published in:
- International Journal of Cancer, 1999, v. 84, n. 3, p. 216, doi. 10.1002/(SICI)1097-0215(19990621)84:3<216::AID-IJC3>3.0.CO;2-E
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- Publication type:
- Article
Salpingo-oophorectomy and the Risk of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women With a BRCA1 or BRCA2 Mutation.
- Published in:
- JAMA: Journal of the American Medical Association, 2006, v. 296, n. 2, p. 185, doi. 10.1001/jama.296.2.185
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- Publication type:
- Article
Sex ratio among the offspring of BRCA mutation carriers.
- Published in:
- 2004
- By:
- Publication type:
- letter
RESEARCH LETTER Sex Ratio Among the Offspring of BRCA Mutation Carriers.
- Published in:
- JAMA: Journal of the American Medical Association, 2004, v. 292, n. 6, p. 687, doi. 10.1001/jama.292.6.687
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- Publication type:
- Article
The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5243, doi. 10.1093/hmg/ddu245
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- Publication type:
- Article
Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 14, p. 2886, doi. 10.1093/hmg/ddq174
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- Publication type:
- Article
Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 535, doi. 10.1038/ejhg.2013.181
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- Publication type:
- Article
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 460, doi. 10.1038/ejhg.2012.186
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- Publication type:
- Article
A genome wide linkage search for breast cancer susceptibility genes.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 7, p. 646, doi. 10.1002/gcc.20330
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- Publication type:
- Article
Re: correspondence from Dr. Michael Swift, Disease Insight Research Foundation, concerning Gutirrez-Enrquez S, Fernet M, Drk T, Bremer M, Lauge A, Stoppa-Lyonnet D, Moullan N, Angle S, Hall J, Functional consequences of the ATM sequence variants for chromosomal radiosensitivity
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 42, n. 2, p. 202, doi. 10.1002/gcc.20130
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- Publication type:
- Article
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
- Published in:
- Genes, Chromosomes & Cancer, 2004, v. 40, n. 2, p. 109
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- Publication type:
- Article
Color bar coding the BRCA1 gene on combed DNA: A useful strategy for detecting large gene rearrangements.
- Published in:
- Genes, Chromosomes & Cancer, 2001, v. 31, n. 1, p. 75, doi. 10.1002/gcc.1120
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- Publication type:
- Article
Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 11, p. 1106, doi. 10.1002/pd.2837
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- Publication type:
- Article
MDM2 as a Modifier Gene in Retinoblastoma.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2010, v. 102, n. 23, p. 1805, doi. 10.1093/jnci/djq416
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- Publication type:
- Article
Ataxia-Telangiectasia genes and breast cancer risk in a French family study.
- Published in:
- Journal of Dairy Research, 2005, v. 72, n. 1, p. 73, doi. 10.1017/s0022029905001147
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- Publication type:
- Article
Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations.
- Published in:
- Oncogene, 2004, v. 23, n. 4, p. 914, doi. 10.1038/sj.onc.1207191
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- Publication type:
- Article
A guide to cancer genetics in clinical practice.
- Published in:
- 2013
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- Publication type:
- Book Review
Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 981, doi. 10.1038/ejhg.2012.37
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- Publication type:
- Article
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 305, doi. 10.1038/ejhg.2011.196
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- Publication type:
- Article
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 300, doi. 10.1038/ejhg.2010.203
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- Publication type:
- Article
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1471, doi. 10.1038/ejhg.2009.89
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- Publication type:
- Article
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 473, doi. 10.1038/sj.ejhg.5201787
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- Publication type:
- Article
The "Psychosocial Aspects in Hereditary Cancer" questionnaire in women attending breast cancer genetic clinics: Psychometric validation across French‐, German‐ and Spanish‐language versions.
- Published in:
- European Journal of Cancer Care, 2020, v. 29, n. 1, p. N.PAG, doi. 10.1111/ecc.13173
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- Publication type:
- Article
Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic.
- Published in:
- Breast Cancer Research & Treatment, 2022, v. 192, n. 2, p. 375, doi. 10.1007/s10549-021-06445-8
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- Publication type:
- Article
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 4, p. 580, doi. 10.1093/jnci/djad248
- By:
- Publication type:
- Article
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2018, v. 110, n. 2, p. 1, doi. 10.1093/jnci/djx159
- By:
- Publication type:
- Article
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 107, doi. 10.1111/cge.14327
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- Publication type:
- Article
Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 30, doi. 10.1111/cge.14147
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- Publication type:
- Article
La Cour suprême libère les gènes: Justifications économiques et juridiques - Impacts sur l'innovation et l'offre de santé.
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- Médecine Sciences, 2015, v. 31, n. 2, p. 209, doi. 10.1051/medsci/20153102019
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- Publication type:
- Article
Un juge fédéral et le gouvernement des États-Unis interviennent contre la brevetabilité des gènes.
- Published in:
- Médecine Sciences, 2012, v. 28, p. 11, doi. 10.1051/medsci/201228s204
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- Publication type:
- Article
Séquençage de nouvelle génération en génétique médicale Du génotype au phénotype, un défi majeur.
- Published in:
- Médecine Sciences, 2012, v. 28, n. 2, p. 123, doi. 10.1051/medsci/2012282001
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- Publication type:
- Article
The European BRCA patent oppositions and appeals: coloring inside the lines.
- Published in:
- Nature Biotechnology, 2013, v. 31, n. 8, p. 704, doi. 10.1038/nbt.2644
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- Publication type:
- Article
High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE.
- Published in:
- Electrophoresis, 2007, v. 28, n. 23, p. 4282, doi. 10.1002/elps.200700010
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- Publication type:
- Article
Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.
- Published in:
- Electrophoresis, 2006, v. 27, n. 8, p. 1444, doi. 10.1002/elps.200500797
- By:
- Publication type:
- Article