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Journal of Medical Genetics|August 29, 2022
First estimates of diffuse gastric cancer risks for carriers of <i>CTNNA1</i> germline pathogenic variantsMarie Coudert, Youenn Drouet, Hélène Delhomelle, et al.Leukemia|June 26, 2021
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasmsJean Pegliasco, Pierre Hirsch, Christophe Marzac, et al.Clinical Genetics|February 29, 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndromeAnna Gerasimenko, Cyril Mignot, Olivier Naggara, et al.Journal of the National Cancer Institute|September 29, 2022
Cancer risks by sex and variant type in PTEN hamartoma tumor syndromeLinda A J Hendricks, Nicoline Hoogerbrugge, Arjen R Mensenkamp, et al.Journal of Medical Genetics|May 17, 2015
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriersRachel S van der Post, Ingrid P Vogelaar, Fátima Carneiro, et al.Gut|September 25, 2025
Hereditary diffuse gastric cancer spectrum associated with germline <i>CTNNA1</i> loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controlsSilvana Lobo, Alexandre Dias, Ana Maria Pedro, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2025
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, et al.The Lancet. Oncology|November 27, 2022
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk SyndromesJosé Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, et al.The Lancet. Oncology|August 8, 2020
Hereditary diffuse gastric cancer: updated clinical practice guidelinesVanessa R Blair, Maybelle McLeod, Fátima Carneiro, et al.American Journal of Human Genetics|October 1, 2021
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approachSandrine M Caputo, Lisa Golmard, Mélanie Léone, et al.Pageof 5