Foto del docente

Elena Bonora

Professoressa associata

Dipartimento di Scienze Mediche e Chirurgiche

Settore scientifico disciplinare: MED/03 GENETICA MEDICA

Pubblicazioni

Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, Bonora E., A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder., «JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS», 2021, 51, pp. 377 - 381 [articolo]

Zuntini, Roberta; Bonora, Elena; Pradella, Laura Maria; Amato, Laura Benedetta; Vidone, Michele; De Fanti, Sara; Catucci, Irene; Cortesi, Laura; Medici, Veronica; Ferrari, Simona; Gasparre, Giuseppe; Peterlongo, Paolo; Sazzini, Marco; Turchetti, Daniela, Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?, «INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES», 2021, 22, pp. 1 - 15 [articolo]

Srivastava, Aayushi; Giangiobbe, Sara; Skopelitou, Diamanto; Miao, Beiping; Paramasivam, Nagarajan; Diquigiovanni, Chiara; Bonora, Elena; Hemminki, Kari; Försti, Asta; Bandapalli, Obul Reddy, Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer, «FRONTIERS IN ENDOCRINOLOGY», 2021, 12, pp. 1 - 10 [articolo]Open Access

Srivastava A.; Miao B.; Skopelitou D.; Kumar V.; Kumar A.; Paramasivam N.; Bonora E.; Hemminki K.; Forsti A.; Bandapalli O.R., A germline mutation in the POT1 gene is a candidate for familial non-medullary thyroid cancer, «CANCERS», 2020, 12, pp. 1441 - 1454 [articolo]Open Access

Acquaviva G.; de Biase D.; Diquigiovanni C.; Argento C.M.; De Leo A.; Bonora E.; Rhoden K.J.; Pession A.; Tallini G., BRAF exon 15 mutations in papillary carcinoma and adjacent thyroid parenchyma: A search for the early molecular events associated with tumor development, «CANCERS», 2020, 12, pp. 1 - 15 [articolo]Open Access

Giancola F.; Volta U.; Repossi R.; Latorre R.; Beeckmans D.; Carbone F.; Van den Houte K.; Bianco F.; Bonora E.; Gori A.; Costanzini A.; Boschetti E.; Caio G.; Vanuytsel T.; Stanghellini V.; Tack J.; De Giorgio R., Mast cell-nerve interactions correlate with bloating and abdominal pain severity in patients with non-celiac gluten / wheat sensitivity, «NEUROGASTROENTEROLOGY AND MOTILITY», 2020, 32, pp. e13814 - e13824 [articolo]

Isidori F.; Bozzarelli I.; Ferrari S.; Godino L.; Innella G.; Turchetti D.; Bonora E., Rasal1 and ros1 gene variants in hereditary breast cancer, «CANCERS», 2020, 12, pp. 1 - 19 [articolo]Open Access

Isidori, Federica; Bozzarelli, Isotta; Mastracci, Luca; Malvi, Deborah; Lugaresi, Marialuisa; Molinari, Chiara; Söderström, Henna; Räsänen, Jari; D'Errico, Antonia; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro, Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, «CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY», 2020, 11, pp. e00202 - 10 [articolo]Open Access

Diquigiovanni C.; Bergamini C.; Diaz R.; Liparulo I.; Bianco F.; Masin L.; Baldassarro V.A.; Rizzardi N.; Tranchina A.; Buscherini F.; Wischmeijer A.; Pippucci T.; Scarano E.; Cordelli D.M.; Fato R.; Seri M.; Paracchini S.; Bonora E., A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism, «FASEB JOURNAL», 2019, 33, pp. 11284 - 11302 [articolo]

Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Benedetti, Ana Florencia Vega; Blois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia, Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene, «JOURNAL OF CLINICAL MEDICINE», 2019, 8, pp. 1 - 19 [articolo]Open Access

Boschetti E.; Malagelada C.; Accarino A.; Malagelada J.R.; Cogliandro R.F.; Gori A.; Bonora E.; Giancola F.; Bianco F.; Tugnoli V.; Clavenzani P.; Azpiroz F.; Stanghellini V.; Sternini C.; de Giorgio R., Enteric neuron density correlates with clinical features of severe gut dysmotility, «AMERICAN JOURNAL OF PHYSIOLOGY: GASTROINTESTINAL AND LIVER PHYSIOLOGY», 2019, 317, pp. G793 - G801 [articolo]

Boschetti E.; Accarino A.; Malagelada C.; Malagelada J.R.; Cogliandro R.F.; Gori A.; Tugnoli V.; Giancola F.; Bianco F.; Bonora E.; Clavenzani P.; Volta U.; Caio G.; Sternini C.; Stanghellini V.; Azpiroz F.; De Giorgio R., Gut epithelial and vascular barrier abnormalities in patients with chronic intestinal pseudo-obstruction, «NEUROGASTROENTEROLOGY AND MOTILITY», 2019, 31, pp. 1 - 11 [articolo]Open Access

Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Graziano C., HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype, «CYTOGENETIC AND GENOME RESEARCH», 2019, 157, pp. 135 - 140 [articolo]

Sagna, Tani; Bonora, Elena; Ouedraogo, Marie Nabonswindé Lamoussa; Fusco, Daniela; Zoure, Abdou Azaque; Bisseye, Cyrille; Djigma, Florencia; Kafando, Jacques Gilbert; Zongo, Nayi; Douamba, Zoenabo; Obiri-Yeboah, Dorcas; Turchetti, Daniela; Pietra, Virginio; Lompo, Olga Melanie; Ouedraogo, Charlemagne; Seri, Marco; Simpore, Jacques, Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso, «BIOMOLECULAR CONCEPTS», 2019, 10, pp. 120 - 127 [articolo]Open Access

Srivastava A.; Kumar A.; Giangiobbe S.; Bonora E.; Hemminki K.; Forsti A.; Bandapalli O.R., Whole genome sequencing of familial non-medullary thyroid cancer identifies germline alterations in MAPK/ERK and PI3K/AKT signaling pathways, «BIOMOLECULES», 2019, 9, pp. 1 - 20 [articolo]Open Access

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