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Soft tissue angiomatosis: another PIK3CA‐related disorder.
- Published in:
- Histopathology, 2020, v. 76, n. 4, p. 540, doi. 10.1111/his.14021
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- Publication type:
- Article
5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
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- Cancers, 2021, v. 13, n. 13, p. 3171, doi. 10.3390/cancers13133171
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- Publication type:
- Article
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.
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- Clinical Genetics, 2019, v. 96, n. 6, p. 579, doi. 10.1111/cge.13629
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- Publication type:
- Article
No evidence for point mutations of the calcium‐sensing receptor in familial idiopathic hypercalciuria.
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- Nephrology Dialysis Transplantation, 2001, v. 16, n. 12, p. 2317, doi. 10.1093/ndt/16.12.2317
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- Article
Accuracy of the routine detection of mutation in mismatch repair genes in patients with susceptibility to hereditary upper urinary tract transitional cell carcinoma.
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- BJU International, 2005, v. 96, n. 1, p. 149, doi. 10.1111/j.1464-410X.2005.05585.x
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- Publication type:
- Article
Proteomic analysis of BRCA1-depleted cell line reveals a putative role for replication protein A2 up-regulation in BRCA1 breast tumor development.
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- Proteomics - Clinical Applications, 2010, v. 4, n. 5, p. 489, doi. 10.1002/prca.200900107
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- Article
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
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- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 742, doi. 10.1038/ejhg.2008.3
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- Article
Clinical and genetic findings in children with central nervous system arteriovenous fistulas.
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- 2017
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- Publication type:
- journal article
DNA damage repair gene germline profiling for metastatic prostate cancer patients of different ancestries.
- Published in:
- Prostate, 2022, v. 82, n. 12, p. 1196, doi. 10.1002/pros.24374
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- Publication type:
- Article
Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer.
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- Prostate, 2021, v. 81, n. 6, p. 318, doi. 10.1002/pros.24109
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- Publication type:
- Article
Screening for Lynch Syndrome in Colorectal Cancer: Are We Doing Enough?
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- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2012, v. 19, n. 3, p. 809, doi. 10.1245/s10434-011-2014-7
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- Publication type:
- Article
The Role of BEAMing and Digital PCR for Multiplexed Analysis in Molecular Oncology in the Era of Next-Generation Sequencing.
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- Molecular Diagnosis & Therapy, 2017, v. 21, n. 6, p. 587, doi. 10.1007/s40291-017-0287-7
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- Publication type:
- Article
Therapeutic strategies to overcome EGFR mutations as acquired resistance mechanism in ALK-rearranged non-small-cell lung cancer: Case Reports.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1182558
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- Publication type:
- Article
Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00100-x
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- Publication type:
- Article
Endothelium-independent conversion of angiotensin I by vascular smooth muscle cells.
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- Cell & Tissue Research, 2001, v. 303, n. 2, p. 227, doi. 10.1007/s004410000309
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- Publication type:
- Article
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
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- Nature Genetics, 2014, v. 46, n. 1, p. 65, doi. 10.1038/ng.2844
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- Publication type:
- Article
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
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- Nature Genetics, 2013, v. 45, n. 5, p. 518, doi. 10.1038/ng.2581
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- Publication type:
- Article
Absence of influence of gender and BMPR2mutation type on clinical phenotypes ofpulmonary arterial hypertension.
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- Respiratory Research, 2010, v. 11, p. 73, doi. 10.1186/1465-9921-11-73
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- Publication type:
- Article
Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.
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- Familial Cancer, 2013, v. 12, n. 1, p. 27, doi. 10.1007/s10689-012-9568-9
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- Publication type:
- Article
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.
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- Familial Cancer, 2010, v. 9, n. 4, p. 589, doi. 10.1007/s10689-010-9367-0
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- Publication type:
- Article
BRCA Share: A Collection of Clinical BRCA Gene Variants.
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- Human Mutation, 2016, v. 37, n. 12, p. 1318, doi. 10.1002/humu.23113
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- Publication type:
- Article
The UMD- APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations.
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- Human Mutation, 2014, v. 35, n. 5, p. 532, doi. 10.1002/humu.22539
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- Publication type:
- Article
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/ in vitro studies on BRCA1 and BRCA2 variants.
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- Human Mutation, 2012, v. 33, n. 8, p. 1228, doi. 10.1002/humu.22101
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- Publication type:
- Article
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
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- Human Mutation, 2011, v. 32, n. 12, p. 1385, doi. 10.1002/humu.21605
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- Publication type:
- Article
Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.
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- Human Mutation, 2009, v. 30, n. 6, p. 867, doi. 10.1002/humu.20947
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- Publication type:
- Article
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
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- Human Mutation, 2004, v. 23, n. 4, p. 289, doi. 10.1002/humu.20017
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- Publication type:
- Article
Droplet digital PCR of circulating tumor cells from colorectal cancer patients can predict KRAS mutations before surgery.
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- Molecular Oncology, 2016, v. 10, n. 8, p. 1221, doi. 10.1016/j.molonc.2016.05.009
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- Publication type:
- Article
La polypose associée à MUTYH : synthèse des données disponibles en 2020 et actualisation des recommandations françaises établies en 2012 sous l'égide de l'Institut National du Cancer (INCa).
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- Hépato-Gastro & Oncologie Digestive, 2020, v. 27, n. 4, p. 396, doi. 10.1684/hpg.2020.1944
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- Publication type:
- Article
Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach Versus Molecular Screening.
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- American Journal of Gastroenterology (Springer Nature), 2008, v. 103, n. 11, p. 2825, doi. 10.1111/j.1572-0241.2008.02084.x
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- Article
Genetic and Acquired Thrombotic Factors in Chronic Hepatitis C.
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- American Journal of Gastroenterology (Springer Nature), 2004, v. 99, n. 3, p. 527, doi. 10.1111/j.1572-0241.2004.04092.x
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- Publication type:
- Article
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
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- Genes, Chromosomes & Cancer, 2023, v. 62, n. 4, p. 210, doi. 10.1002/gcc.23112
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- Publication type:
- Article
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
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- Gastric Cancer, 2019, v. 22, n. 4, p. 899, doi. 10.1007/s10120-018-00907-7
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- Article
Lung cancer is also a hereditary disease.
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- European Respiratory Review, 2021, v. 30, n. 162, p. 1, doi. 10.1183/16000617.0045-2021
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- Article
Shear stress induces angiotensin converting enzyme expression in cultured smooth muscle cells: possible involvement of bFGF.
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- Cardiovascular Research, 2000, v. 45, n. 2, p. 486, doi. 10.1016/S0008-6363(99)00269-2
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- Publication type:
- Article
Intraductal Papillary Mucinous Carcinoma Versus Conventional Pancreatic Ductal Adenocarcinoma: A Comprehensive Review of Clinical-Pathological Features, Outcomes, and Molecular Insights.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6756, doi. 10.3390/ijms22136756
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- Article
Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1.
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- International Journal of Cancer, 2013, v. 132, n. 10, p. 2470, doi. 10.1002/ijc.27923
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- Publication type:
- Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
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- Publication type:
- Article
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
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- Clinical Genetics, 2021, v. 99, n. 5, p. 662, doi. 10.1111/cge.13925
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- Publication type:
- Article
Parkes‐Weber syndrome related to RASA1 mosaic mutation.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 330, doi. 10.1111/cge.13860
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- Publication type:
- Article