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Page 1
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
Miao B, Skopelitou D, Srivastava A, Giangiobbe S, Dymerska D, Paramasivam N, Kumar A, Kuświk M, Kluźniak W, Paszkowska-Szczur K, Schlesner M, Lubinski J, Hemminki K, Försti A, Bandapalli OR. Miao B, et al. Among authors: giangiobbe s. Int J Mol Sci. 2022 Jan 24;23(3):1295. doi: 10.3390/ijms23031295. Int J Mol Sci. 2022. PMID: 35163215 Free PMC article.
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing.
Srivastava A, Giangiobbe S, Kumar A, Paramasivam N, Dymerska D, Behnisch W, Witzens-Harig M, Lubinski J, Hemminki K, Försti A, Bandapalli OR. Srivastava A, et al. Among authors: giangiobbe s. Front Bioeng Biotechnol. 2020 Mar 6;8:179. doi: 10.3389/fbioe.2020.00179. eCollection 2020. Front Bioeng Biotechnol. 2020. PMID: 32211398 Free PMC article.
Characterization of rare germline variants in familial multiple myeloma.
Catalano C, Paramasivam N, Blocka J, Giangiobbe S, Huhn S, Schlesner M, Weinhold N, Sijmons R, de Jong M, Langer C, Preuss KD, Nilsson B, Durie B, Goldschmidt H, Bandapalli OR, Hemminki K, Försti A. Catalano C, et al. Among authors: giangiobbe s. Blood Cancer J. 2021 Feb 13;11(2):33. doi: 10.1038/s41408-021-00422-6. Blood Cancer J. 2021. PMID: 33583942 Free PMC article. No abstract available.
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer.
Srivastava A, Giangiobbe S, Skopelitou D, Miao B, Paramasivam N, Diquigiovanni C, Bonora E, Hemminki K, Försti A, Bandapalli OR. Srivastava A, et al. Among authors: giangiobbe s. Front Endocrinol (Lausanne). 2021 Feb 22;12:600682. doi: 10.3389/fendo.2021.600682. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33692755 Free PMC article.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Contrò G, et al. Among authors: giangiobbe s. Genes (Basel). 2021 Aug 5;12(8):1208. doi: 10.3390/genes12081208. Genes (Basel). 2021. PMID: 34440382 Free PMC article.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L. Caraffi SG, et al. Among authors: giangiobbe s. Genes (Basel). 2019 Oct 12;10(10):799. doi: 10.3390/genes10100799. Genes (Basel). 2019. PMID: 31614862 Free PMC article.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Giangiobbe S, et al. Am J Med Genet A. 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043602
17 results