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Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63605
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- Article
Quantitative proteomics and phosphoproteomics profiling of meiotic divisions in the fission yeast Schizosaccharomyces pombe.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-74523-0
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- Article
Repeated participation in pancreatic cancer surveillance by high-risk individuals imposes low psychological burden.
- Published in:
- 2016
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- Publication type:
- journal article
Defects in the DNA Mismatch Repair System Do Not Contribute to the Development of Childhood Wilms Tumors.
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- Pediatric & Developmental Pathology, 2013, v. 16, n. 1, p. 14, doi. 10.2350/12-09-1249-OA
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- Publication type:
- Article
Prevention of CMV/EBV reactivation by double-specific T cells in patients after allogeneic stem cell transplantation: results from the randomized phase I/IIa MULTIVIR-01 study.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1251593
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- Article
Lithium preserves peritoneal membrane integrity by suppressing mesothelial cell αB-crystallin.
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- Science Translational Medicine, 2021, v. 13, n. 608, p. 1, doi. 10.1126/scitranslmed.aaz9705
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- Article
Liquid Biopsies for Colorectal Cancer and Advanced Adenoma Screening and Surveillance: What to Measure?
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- Cancers, 2023, v. 15, n. 18, p. 4607, doi. 10.3390/cancers15184607
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- Article
Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers.
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- Cancers, 2021, v. 13, n. 3, p. 459, doi. 10.3390/cancers13030459
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- Article
Peritoneal Dialysis Fluid Supplementation with Alanyl-Glutamine Attenuates Conventional Dialysis Fluid-Mediated Endothelial Cell Injury by Restoring Perturbed Cytoprotective Responses.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 12, p. 1678, doi. 10.3390/biom10121678
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- Article
Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.
- Published in:
- BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1235-4
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- Article
Use of cardiac magnetic resonance to assess viability.
- Published in:
- Current Cardiology Reports, 2005, v. 7, n. 1, p. 59, doi. 10.1007/s11886-005-0012-8
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- Article
A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory.
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- Journal of Cellular & Molecular Medicine, 2010, v. 14, n. 1/2, p. 181, doi. 10.1111/j.1582-4934.2009.00977.x
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- Publication type:
- Article
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/9628049
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- Publication type:
- Article
Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 577, doi. 10.1038/ejhg.2011.226
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- Publication type:
- Article
Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 236, doi. 10.1038/ejhg.2011.152
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- Article
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 492, doi. 10.1038/sj.ejhg.5200668
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- Publication type:
- Article
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
- Published in:
- 2017
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- Publication type:
- journal article
Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
- Published in:
- 2013
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- Publication type:
- Journal Article
Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers.
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- JNCI: Journal of the National Cancer Institute, 2010, v. 102, n. 3, p. 193, doi. 10.1093/jnci/djp473
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- Article
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2098
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- Article
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
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- 2007
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- Publication type:
- journal article
American founder mutation for Lynch syndrome: Prevalence estimates and implications.
- Published in:
- Cancer (0008543X), 2006, v. 106, n. 2, p. 448
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- Publication type:
- Article
Guidelines on Genetic Evaluation and Management of Lynch Syndrome.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2015, v. 110, n. 1, p. 192, doi. 10.1038/ajg.2014.329
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- Article
Functional assessment of myoblast transplantation for cardiac repair with magnetic resonance imaging
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- European Journal of Heart Failure, 2005, v. 7, n. 4, p. 435, doi. 10.1016/j.ejheart.2003.12.022
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- Article
Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.
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- Journal of Pathology, 2014, v. 234, n. 4, p. 548, doi. 10.1002/path.4419
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- Publication type:
- Article
Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.
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- Journal of Pathology, 2012, v. 226, n. 5, p. 764, doi. 10.1002/path.3963
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- Publication type:
- Article
The Management of Peutz–Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline †.
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- Journal of Clinical Medicine, 2021, v. 10, n. 3, p. 473, doi. 10.3390/jcm10030473
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- Article
A Founder Mutation of the MSH2 Gene and Hereditary Nonpolyposis Colorectal Cancer in the United States.
- Published in:
- JAMA: Journal of the American Medical Association, 2004, v. 291, n. 6, p. 718, doi. 10.1001/jama.291.6.718
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- Article
Left ventricular wall motion abnormalities as well as reduced wall thickness can cause false positive results of routine SPECT perfusion imaging for detection of myocardial infarction.
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- European Heart Journal, 2005, v. 26, n. 20, p. 2127, doi. 10.1093/eurheartj/ehi387
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- Publication type:
- Article
Delayed enhancement cardiovascular magnetic resonance assessment of non-ischaemic cardiomyopathies.
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- European Heart Journal, 2005, v. 26, n. 15, p. 1461, doi. 10.1093/eurheartj/ehi258
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- Article
A novel tissue-based ß-catenin gene and immunohistochemical analysis to exclude familial adenomatous polyposis among children with hepatoblastoma tumors.
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- 2018
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- Publication type:
- journal article
KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
- Published in:
- 2012
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- Publication type:
- journal article
KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 3, p. 565, doi. 10.1002/pbc.23398
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- Publication type:
- Article
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.
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- Pediatric Blood & Cancer, 2010, v. 55, n. 4, p. 742, doi. 10.1002/pbc.22588
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- Article
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 44, n. 2, p. 123, doi. 10.1002/gcc.20219
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- Publication type:
- Article
A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.
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- Genes, Chromosomes & Cancer, 2002, v. 35, n. 1, p. 49, doi. 10.1002/gcc.10094
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- Publication type:
- Article
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 11, p. 1503, doi. 10.1093/hmg/ddi159
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- Article
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.
- Published in:
- Familial Cancer, 2023, v. 22, n. 4, p. 487, doi. 10.1007/s10689-023-00336-1
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- Publication type:
- Article
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.
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- Familial Cancer, 2021, v. 20, n. 4, p. 263, doi. 10.1007/s10689-021-00237-1
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- Publication type:
- Article
Patient-reported burden of intensified surveillance and surgery in high-risk individuals under pancreatic cancer surveillance.
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- Familial Cancer, 2020, v. 19, n. 3, p. 247, doi. 10.1007/s10689-020-00171-8
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- Publication type:
- Article
'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.
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- Familial Cancer, 2020, v. 19, n. 1, p. 65, doi. 10.1007/s10689-019-00154-4
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- Article
SNP association study in PMS2-associated Lynch syndrome.
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- Familial Cancer, 2018, v. 17, n. 4, p. 507, doi. 10.1007/s10689-017-0061-3
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- Article
Factors associated with cancer worries in individuals participating in annual pancreatic cancer surveillance.
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- Familial Cancer, 2017, v. 16, n. 1, p. 143, doi. 10.1007/s10689-016-9930-4
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- Publication type:
- Article
Genetic testing for Lynch syndrome: family communication and motivation.
- Published in:
- Familial Cancer, 2016, v. 15, n. 1, p. 63, doi. 10.1007/s10689-015-9842-8
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- Publication type:
- Article
Attitude towards pre-implantation genetic diagnosis for hereditary cancer.
- Published in:
- Familial Cancer, 2009, v. 8, n. 4, p. 457, doi. 10.1007/s10689-009-9265-5
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- Publication type:
- Article
Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.
- Published in:
- Familial Cancer, 2007, v. 6, n. 3, p. 311, doi. 10.1007/s10689-006-9115-7
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- Publication type:
- Article
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.
- Published in:
- Familial Cancer, 2007, v. 6, n. 1, p. 43, doi. 10.1007/s10689-006-9103-y
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- Publication type:
- Article
Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures.
- Published in:
- Familial Cancer, 2005, v. 4, n. 4, p. 295, doi. 10.1007/s10689-005-0658-9
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- Publication type:
- Article
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
- Published in:
- Human Mutation, 2016, v. 37, n. 11, p. 1162, doi. 10.1002/humu.23052
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- Article
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 578, doi. 10.1002/humu.21229
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- Article