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Loss of Mismatch Repair Protein Expression in Breast Carcinoma in Patients with Lynch Syndrome: Report of Two Cases.
- Published in:
- Breast Journal, 2013, v. 19, n. 2, p. 193, doi. 10.1111/tbj.12077
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- Publication type:
- Article
Lymphocyte radiosensitivity in BRCA1 and BRCA2 mutation carriers and implications for breast cancer susceptibility.
- Published in:
- International Journal of Cancer, 2007, v. 121, n. 7, p. 1631, doi. 10.1002/ijc.22915
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- Publication type:
- Article
Cancer risks in women with 2 breast or ovarian cancers: Clues to genetic cancer susceptibility.
- Published in:
- International Journal of Cancer, 2001, v. 94, n. 5, p. 758, doi. 10.1002/ijc.1534
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- Publication type:
- Article
The prevalence of a family history of cancer in general practice.
- Published in:
- Family Practice, 1995, v. 12, n. 3, p. 287
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- Publication type:
- Article
DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2820, doi. 10.1093/hmg/ddt131
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- Publication type:
- Article
Whole-genome sequencing in health care.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, p. S1, doi. 10.1038/ejhg.2013.46
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- Publication type:
- Article
Whole-genome sequencing in health care.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 580, doi. 10.1038/ejhg.2013.46
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- Publication type:
- Article
Allelic imbalance, including deletion of PTEN/MMAC1, at the Cowden disease locus on 10q22-23, in hamartomas from patients with cowden syndrome and germline PTEN mutation.
- Published in:
- Genes, Chromosomes & Cancer, 1998, v. 21, n. 1, p. 61, doi. 10.1002/(SICI)1098-2264(199801)21:1<61::AID-GCC8>3.0.CO;2-6
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- Publication type:
- Article
Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients.
- Published in:
- Oncogene, 2003, v. 22, n. 27, p. 4257, doi. 10.1038/sj.onc.1206471
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- Publication type:
- Article
Italian appeal court: a genetic predisposition to commit murder?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 519, doi. 10.1038/ejhg.2010.31
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- Publication type:
- Article
Genomics and breast cancer: the different levels of inherited susceptibility.
- Published in:
- 2009
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- Publication type:
- Opinion
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 310, doi. 10.1038/sj.ejhg.5200288
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- Publication type:
- Article
Loss of Expression and Promoter Methylation of SLIT2 Are Associated with Sessile Serrated Adenoma Formation
- Published in:
- PLoS Genetics, 2013, v. 9, n. 5, p. 1, doi. 10.1371/journal.pgen.1003488
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- Publication type:
- Article
Short Report Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia.
- Published in:
- British Journal of Haematology, 2003, v. 123, n. 3, p. 469, doi. 10.1046/j.1365-2141.2003.04640.x
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- Publication type:
- Article
High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia.
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- Familial Cancer, 2005, v. 4, n. 2, p. 77, doi. 10.1007/s10689-004-2758-3
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- Publication type:
- Article
Whole-genome methylation analysis of benign and malignant colorectal tumours. J Pathol 2013; 229: 697-704.
- Published in:
- Journal of Pathology, 2013, v. 231, n. 4, p. 543, doi. 10.1002/path.4249
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- Publication type:
- Article
Whole-genome methylation analysis of benign and malignant colorectal tumours.
- Published in:
- Journal of Pathology, 2013, v. 229, n. 5, p. 697, doi. 10.1002/path.4132
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- Publication type:
- Article
Expression of HIF-1α, HIF-2α (EPAS1), and Their Target Genes in Paraganglioma and Pheochromocytoma with VHL and SDH Mutations.
- Published in:
- 2006
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- Publication type:
- journal article
Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease.
- Published in:
- Immunogenetics, 2000, v. 51, n. 1, p. 1, doi. 10.1007/s002510050001
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- Publication type:
- Article
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
- Published in:
- Clinical Endocrinology, 2003, v. 59, n. 6, p. 728, doi. 10.1046/j.1365-2265.2003.01914.x
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- Publication type:
- Article
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
- Published in:
- 2014
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- Publication type:
- journal article
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
- Published in:
- 2013
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- Publication type:
- journal article
Hyperkalaemic cardiac arrest in a manifesting carrier of Duchenne muscular dystrophy following general anaesthesia.
- Published in:
- 2001
- By:
- Publication type:
- case study
Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. International Review of Child Neurology Series, Edited by Paolo Curatolo, London, Mac Keith Press, 2003, pp 328, £55.00, US$75.00, ISBN 1 898683 39 5 (Hardback).
- Published in:
- Developmental Medicine & Child Neurology, 2004, v. 46, n. 11, p. 790, doi. 10.1017/S0012162204221363
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- Publication type:
- Article
The genetics of learning disabilities.
- Published in:
- 1998
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- Publication type:
- journal article
Cancer incidence in relatives of British Fanconi Anaemia patients.
- Published in:
- BMC Cancer, 2008, v. 8, p. 1, doi. 10.1186/1471-2407-8-257
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- Publication type:
- Article
Novel frameshift mutations in the RP2 gene and polymorphic variants.
- Published in:
- Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3
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- Publication type:
- Article
Cancer Genetics Services in the UK.
- Published in:
- Disease Markers, 1999, v. 15, n. 1-3, p. 44, doi. 10.1155/1999/178217
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- Publication type:
- Article
Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors.
- Published in:
- Nature Medicine, 2003, v. 9, n. 5, p. 568, doi. 10.1038/nm852
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- Publication type:
- Article
Leiden open variation database of the MUTYH gene.
- Published in:
- 2010
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- Publication type:
- Other
Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 16, p. 2728, doi. 10.1093/hmg/ddac066
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- Publication type:
- Article
Deletion of chromosome 3q proximal region gives rise to a variable phenotype.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 3, p. 220, doi. 10.1111/j.1399-0004.1998.tb02681.x
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- Publication type:
- Article
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
- Published in:
- Histopathology, 2017, v. 71, n. 1, p. 42, doi. 10.1111/his.13183
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- Publication type:
- Article
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggests a single entity with Cowden syndrome.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1461, doi. 10.1093/hmg/8.8.1461
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- Publication type:
- Article
Familial Infiltrative Fibromatosis (Desmoid Tumours) (MIM135290) Caused by a Recurrent 3′ APC Gene Mutation.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1921, doi. 10.1093/hmg/5.12.1921
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- Publication type:
- Article
Molecular deletions in the Duchenne/Becker muscular dystrophy gene.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 4, p. 251, doi. 10.1111/j.1399-0004.1989.tb02939.x
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- Publication type:
- Article