Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways

por Srivastava, Aayushi, Kumar, Abhishek, Giangiobbe, Sara, Bonora, Elena, Hemminki, Kari, Försti, Asta, Bandapalli, Obul Reddy
Publicado 2019

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

por Kumar, Abhishek, Bandapalli, Obul Reddy, Paramasivam, Nagarajan, Giangiobbe, Sara, Diquigiovanni, Chiara, Bonora, Elena, Eils, Roland, Schlesner, Matthias, Hemminki, Kari, Försti, Asta
Publicado 2018

Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer

por Srivastava, Aayushi, Giangiobbe, Sara, Skopelitou, Diamanto, Miao, Beiping, Paramasivam, Nagarajan, Diquigiovanni, Chiara, Bonora, Elena, Hemminki, Kari, Försti, Asta, Bandapalli, Obul Reddy
Publicado 2021

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing

por Srivastava, Aayushi, Giangiobbe, Sara, Kumar, Abhishek, Paramasivam, Nagarajan, Dymerska, Dagmara, Behnisch, Wolfgang, Witzens-Harig, Mathias, Lubinski, Jan, Hemminki, Kari, Försti, Asta, Bandapalli, Obul Reddy
Publicado 2020

Deregulation of MiR-34b/Sox2 Predicts Prostate Cancer Progression

por Forno, Irene, Ferrero, Stefano, Russo, Maria Veronica, Gazzano, Giacomo, Giangiobbe, Sara, Montanari, Emanuele, Del Nero, Alberto, Rocco, Bernardo, Albo, Giancarlo, Languino, Lucia R., Altieri, Dario C., Vaira, Valentina, Bosari, Silvano
Publicado 2015

Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer

por Miao, Beiping, Skopelitou, Diamanto, Srivastava, Aayushi, Giangiobbe, Sara, Dymerska, Dagmara, Paramasivam, Nagarajan, Kumar, Abhishek, Kuświk, Magdalena, Kluźniak, Wojciech, Paszkowska-Szczur, Katarzyna, Schlesner, Matthias, Lubinski, Jan, Hemminki, Kari, Försti, Asta, Bandapalli, Obul Reddy
Publicado 2022

The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

por Tran, Christel, Turolla, Licia, Ballhausen, Diana, Buros, Sandrine Cornaz, Teav, Tony, Gallart-Ayala, Hector, Ivanisevic, Julijana, Faouzi, Mohamed, Lefeber, Dirk J., Ivanovski, Ivan, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Garavelli, Livia, Superti-Furga, Andrea
Publicado 2021

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

por Caraffi, Stefano Giuseppe, Maini, Ilenia, Ivanovski, Ivan, Pollazzon, Marzia, Giangiobbe, Sara, Valli, Maurizia, Rossi, Antonio, Sassi, Silvia, Faccioli, Silvia, Di Rocco, Maja, Magnani, Cinzia, Campos-Xavier, Belinda, Unger, Sheila, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2019

Characterization of rare germline variants in familial multiple myeloma

por Catalano, Calogerina, Paramasivam, Nagarajan, Blocka, Joanna, Giangiobbe, Sara, Huhn, Stefanie, Schlesner, Matthias, Weinhold, Niels, Sijmons, Rolf, de Jong, Mirjam, Langer, Christian, Preuss, Klaus-Dieter, Nilsson, Björn, Durie, Brian, Goldschmidt, Hartmut, Bandapalli, Obul Reddy, Hemminki, Kari, Försti, Asta
Publicado 2021

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

por Contrò, Gianluca, Micalizzi, Alessia, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Rosato, Simonetta, Pollazzon, Marzia, Terracciano, Alessandra, Napoli, Manuela, Rizzi, Susanna, Salerno, Grazia Gabriella, Radio, Francesca Clementina, Niceta, Marcello, Parrini, Elena, Fusco, Carlo, Gargano, Giancarlo, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Zuffardi, Orsetta, Garavelli, Livia
Publicado 2021