SIGU (Italian Society of Human Genetics) Cyto Genetics Genomics work group a study including 5059 patients referred for postnatal CMA (Chromosomal Microarray) analysis
2017-01-01 Catusi, Ilaria; Recalcati, Maria Paola; Alfonsi, Melissa; Alghisi, Alberta; Cappellani, Stefania; Casalone, Rosario; Caselli, Rossella; Ceccarini, Caterina; Ceglia, Carlo; Ciaschini, Anna Maria; Coviello, Domenico; Crosti, Francesca; D'Aprile, Annamaria; Fabretto, Antonella; Garzo, Maria; Genesio, Rita; Giagnacovo, Marzia; Granata, Paola; Longo, Ilaria; Malacarne, Michela; Marseglia, Giuseppina; Montaldi, Annamaria; Nardone, Anna Maria; Palka, Chiara; Pecile, Vanna; Pessina, Chiara; Postorivo, Diana; Redaelli, Serena; Renieri, Alessandra; Rigon, Chiara; Tiberi, Fabiola; Tonelli, Mariella; Valtorta, Chiara; Villa, Nicoletta; Zilio, Anna; Zuccarello, Daniela; Novelli, Antonio; Larizza, Lidia; Giardino, Daniela
Persistent hypoglycemia in children: contribution of NGS in diagnosis of inborn errors of metabolism
2019-01-01 Ponzi, E.; Maiorana, A.; Lepri, F.; Mucciolo, M.; Novelli, Antonio; Dionisi-Vici, C.
Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements
2018-01-01 Bak, M.; Fonseca, A.; Mehrjouy, M.; Rasmussen, M.; Halgren, C.; Bache, I.; Kroisel, P.; Midyan, S.; Vermeesch, J.; Vienna-Morgante, A.; Abe, K.; Moretti-Ferreira, D.; Angelova, L.; Rajcan-Separovic, E.; Sismani, C.; Aristidou, C.; Sedlacek, Z.; Fagerberg, C.; Brondum-Nielsen, K.; Vogel, I.; Bojesen, A.; Ounap, K.; Roht, L.; Lespinasse, J.; Beneteau, C.; Kalscheuer, V.; Ehmke, N.; Daumer-Haas, C.; Stefanou, E.; Czako, M.; Sheth, F.; Bonaglia, C.; Novelli, Antonio; Fannemel, M.; Engelen, J.; Travessa, A.; Kokalj-Vokac, N.; Ramos-Arroyo, M.; Martinez, L. R.; Guitart, M.; Schinzel, A.; Silan, F.; De Almeida, C.; Akkari, Y.; Batanian, J.; Kim, H.; Jacky, P.; Tommerup, N.
EFFECTS OF ADJUNCTIVE PERAMPANEL ON SLEEP QUALITY, DAYTIME SOMNOLENCE AND COGNITION IN REFRACTORY FOCAL EPILEPSY: A QUESTIONNAIRE-BASED STUDY
2016-01-01 Romigi, Andrea; Izzi, F.; Liguori, C.; Placidi, F.; Bove, L.; Mercuri, N.
Investigating biomarkers for predicting the conversion to alpha-synucleinopathies in patients affected by REM sleep behavior disorder: a comprehensive analysis of clinical, neuropsychological, neuroimaging, and cerebrospinal-fluid data
2017-01-01 Liguori, C.; Ruffini, R.; Chiaravalloti, A.; Izzi, F.; Assogna, F.; Romigi, Andrea; Spalletta, G.; Schillaci, O.; Mercuri, N. B.; Placidi, F.
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement
2019-01-01 Pascolini, G.; Agolini, E.; Majore, S.; Novelli, Antonio; Grammatico, P.; Digilio, M.
Expanding the clinical and molecular spectrum of DYRK1A-related disorder: report on novel mutations in three patients with syndromic intellectual disability, microcephaly, febrile seizures, distinctive facial dysmorphisms and cerebellar vermis hypoplasia
2019-01-01 Barresi, S.; Dentici, M.; Ciolfi, A.; Agolini, E.; Macchiaiolo, M.; Pizzi, S.; Leoni, C.; Niceta, M.; Pantaleoni, F.; Radio, F.; Capuano, A.; Onesimo, R.; Digilio, M.; Novelli, Antonio; Zampino, G.; Bartuli, A.; Dallapiccola, B.; Tartaglia, M.
ROLE OF INTRAOPERATIVE ULTRASOUND TO EXTEND MINIMALLY INVASIVE SURGERY FOR TREATMENT OF RECURRENT GYNECOLOGICAL CANCER
2017-01-01 Mascilini, F.; Moro, Francesca; Quagliozzi, L.; Cristina, M. M.; Di Siena, A.; De Leo, R.; Scambia, G.; Testa, A. C.; Fagotti, A.
Contribution of CMA to genetic diagnosis of individuals with dysmorphisms: a collaborative study of the SIGU (Italian Society of Human Genetics) Cytogenetic and Cytogenomic working group
2019-01-01 Garzo, M.; Catusi, I.; Recalcati, M.; Alfonsi, M.; Alghisi, A.; Cappellani, S.; Casalone, R.; Caselli, R.; Ceccarini, C.; Ceglia, C.; Ciaschini, A.; Coviello, D.; Crosti, F.; D'Aprile, A.; Fabretto, A.; Genesio, R.; Giagnacovo, M.; Granata, P.; Longo, I.; Malacarne, M.; Marseglia, G.; Montaldi, A.; Nardone, A.; Palka, C.; Pecile, V.; Pessina, C.; Postorivo, D.; Redaelli, S.; Renieri, A.; Rigon, C.; Tiberi, F.; Tonelli, M.; Valtorta, C.; Villa, N.; Zilio, A.; Zuccarello, D.; Novelli, Antonio; Larizza, L.; Giardino, D.
CD28 Null T Lymphocytes Are Expanded in Young Women with Polycystic Ovary Syndrome
2009-01-01 Sagnella, Francesca; Tropea, Anna; Orlando, Mariateresa; Moro, Francesca; Martinez, Daniela; Morciano, Andrea; Stifani, Francesco; Spadoni, Valentina; Gangale, Maria Francesca; Lanzone, Antonio; Apa, Rosanna
Glycogen storage disease type III: identification of the first case of uniparental disomy and two novel deletions
2019-01-01 Ponzi, E.; Maiorana, A.; Alesi, V.; Lepri, F.; Genovese, S.; Loddo, S.; Mucciolo, M.; Novelli, Antonio; Dionisi-Vici, C.
Three new cases of interstitial microdeletion 4p16.3 contributing to a genotype phenotype correlation of WHS critical region of deletion
2017-01-01 Bernardini, Laura; Digilio, Maria Cristina; Radio, Francesca Clementina; Acquaviva, Fabio; Gorgone, Cristina; Postorivo, Diana; Torres, Barbara; Alesi, Viola; Nardone, Anna Maria; Mattina, Teresa; Scarano, Gioacchino; Novelli, Antonio; Dallapiccola, Bruno
Ultrasound and 3D SPECT/CT Fusion to identify sentinel lymph nodes in vulvar cancer: a feasibility study
2019-01-01 Garganese, G.; Bove, S.; Zagaria, L.; Moro, Francesca; Fragomeni, S. M.; Ieria, F. P.; Gentileschi, S.; Romeo, P.; Di Giorgio, D.; Giordano, A.; Scambia, G.; Testa, A. C.
Isolated CDH1 germline small deletion in a family with early onset breast cancer detected by Array-CGH
2009-01-01 Palka, C.; Calabrese, G.; Novelli, Antonio; Morizio, E.; Franchi, P. G.; Fantasia, D.; Gatta, V.; Palka, G.; Dallapiccola, B.
Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (sHLH)
2018-01-01 Passarelli, Chiara; Pardeo, Manuela; Caiello, Ivan; Pisaneschi, Elisa; Insalaco, Antonella; Minoia, Francesca; Taddio, Andrea; Licciardi, Francesco; Novelli, Antonio; De Benedetti, Fabrizio; Bracaglia, Claudia
Craniofacial appearance of a Developmental Disorder of Chromatin Remodeling in a girl with syndromic intellectual disability and a novel de novo microrearrangement encompassing HNRNPC gene
2019-01-01 Agolini, E.; Fleischer, N.; Pierantoni, R.; Loddo, S.; Novelli, Antonio; Bernardini, L.; Majore, S.; Grammatico, P.; Pascolini, G.
Insulin-dependent diabetes mellitus affects H-pylori eradication rate
1998-01-01 Ojetti, Veronica; Gasbarrini, A.; Pitocco, D.; Franceschi, F.; Sanz Torre, E.; Candelli, M.; Ghirlanda, G.; Gasbarrini, G.
Hermansky-Pudlak Syndrome Subtype 4 (HPS-4): A Novel Mutation in a 44 Years Old Italian Woman with Severe Pulmonary Fibrosis
2019-01-01 Leone, P. M.; Magnini, D.; Agolini, E.; Sgalla, G.; Iovene, B.; Varone, F.; Novelli, Antonio; Richeldi, L.
Molecular cytogenetic characterization of two cases with cryptic rearrangements of the 6q subtelomeric region
2002-01-01 Grammatico, P.; Novelli, Antonio; Poscente, M.; Ceccarini, C.; De Bernard, C.; Dallapiccola, B.
NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
2017-01-01 Tommerup, Niels; Fonseca, Ana Carolina; Mehrjouy, Mana; Rasmussen, Malene B.; Bache, Iben; Halgren, Christina; Kroisel, Peter; Midyan, Susanna; Vermeesch, Joris; Vianna-Morgante, Angela M.; Abe, Kikue T.; Moretti-Ferreira, Danilo; Paskulin, Giorgio; Angelova, Lyudmila; Rajcan-Separovic, Evica; Sismani, Carolina; Sedlacek, Zdenek; Fagerberg, Christina; Brondum-Nielsen, Karen; Vogel, Ida; Bojesen, Anders; Ounap, Katrin; Roht, Laura; Varilo, Teppo; Luukkonen, Tiia; Lespinasse, James; Beneteau, Claire; Kalscheuer, Vera M.; Ehmke, Nadja; Daumer-Haas, Cornelia; Stefanou, Eunice G.; Marta, Czako; Kosztolanyi, Gyorgy; Sheth, Frenny; Zuffardi, Orsetta; Bonaglia, Clara; Novelli, Antonio; Fannemel, Madeleine; Dias, Patricia; Kokalj-Vokac, Nadja; Ramos-Arroyo, Maria A.; Rodriguez Martinez, Laura; Guitart, Miriam; Schinzel, Albert; Engelen, John; Silan, Fatma; Akkari, Yassmine; Batanian, Jacqueline R.; Kim, Hyung-Goo; Aristidou, Constantia; De Almeida, Cynthia; Lewis, Suzanne; Moreno-Igoa, Maria; Hovhannisyan, Anna; Jacky, Peter; Bak, Mads
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| SIGU (Italian Society of Human Genetics) Cyto Genetics Genomics work group a study including 5059 patients referred for postnatal CMA (Chromosomal Microarray) analysis | 1-gen-2017 | Catusi, Ilaria; Recalcati, Maria Paola; Alfonsi, Melissa; Alghisi, Alberta; Cappellani, Stefania; Casalone, Rosario; Caselli, Rossella; Ceccarini, Caterina; Ceglia, Carlo; Ciaschini, Anna Maria; Coviello, Domenico; Crosti, Francesca; D'Aprile, Annamaria; Fabretto, Antonella; Garzo, Maria; Genesio, Rita; Giagnacovo, Marzia; Granata, Paola; Longo, Ilaria; Malacarne, Michela; Marseglia, Giuseppina; Montaldi, Annamaria; Nardone, Anna Maria; Palka, Chiara; Pecile, Vanna; Pessina, Chiara; Postorivo, Diana; Redaelli, Serena; Renieri, Alessandra; Rigon, Chiara; Tiberi, Fabiola; Tonelli, Mariella; Valtorta, Chiara; Villa, Nicoletta; Zilio, Anna; Zuccarello, Daniela; Novelli, Antonio; Larizza, Lidia; Giardino, Daniela | |
| Persistent hypoglycemia in children: contribution of NGS in diagnosis of inborn errors of metabolism | 1-gen-2019 | Ponzi, E.; Maiorana, A.; Lepri, F.; Mucciolo, M.; Novelli, Antonio; Dionisi-Vici, C. | |
| Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements | 1-gen-2018 | Bak, M.; Fonseca, A.; Mehrjouy, M.; Rasmussen, M.; Halgren, C.; Bache, I.; Kroisel, P.; Midyan, S.; Vermeesch, J.; Vienna-Morgante, A.; Abe, K.; Moretti-Ferreira, D.; Angelova, L.; Rajcan-Separovic, E.; Sismani, C.; Aristidou, C.; Sedlacek, Z.; Fagerberg, C.; Brondum-Nielsen, K.; Vogel, I.; Bojesen, A.; Ounap, K.; Roht, L.; Lespinasse, J.; Beneteau, C.; Kalscheuer, V.; Ehmke, N.; Daumer-Haas, C.; Stefanou, E.; Czako, M.; Sheth, F.; Bonaglia, C.; Novelli, Antonio; Fannemel, M.; Engelen, J.; Travessa, A.; Kokalj-Vokac, N.; Ramos-Arroyo, M.; Martinez, L. R.; Guitart, M.; Schinzel, A.; Silan, F.; De Almeida, C.; Akkari, Y.; Batanian, J.; Kim, H.; Jacky, P.; Tommerup, N. | |
| EFFECTS OF ADJUNCTIVE PERAMPANEL ON SLEEP QUALITY, DAYTIME SOMNOLENCE AND COGNITION IN REFRACTORY FOCAL EPILEPSY: A QUESTIONNAIRE-BASED STUDY | 1-gen-2016 | Romigi, Andrea; Izzi, F.; Liguori, C.; Placidi, F.; Bove, L.; Mercuri, N. | |
| Investigating biomarkers for predicting the conversion to alpha-synucleinopathies in patients affected by REM sleep behavior disorder: a comprehensive analysis of clinical, neuropsychological, neuroimaging, and cerebrospinal-fluid data | 1-gen-2017 | Liguori, C.; Ruffini, R.; Chiaravalloti, A.; Izzi, F.; Assogna, F.; Romigi, Andrea; Spalletta, G.; Schillaci, O.; Mercuri, N. B.; Placidi, F. | |
| Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement | 1-gen-2019 | Pascolini, G.; Agolini, E.; Majore, S.; Novelli, Antonio; Grammatico, P.; Digilio, M. | |
| Expanding the clinical and molecular spectrum of DYRK1A-related disorder: report on novel mutations in three patients with syndromic intellectual disability, microcephaly, febrile seizures, distinctive facial dysmorphisms and cerebellar vermis hypoplasia | 1-gen-2019 | Barresi, S.; Dentici, M.; Ciolfi, A.; Agolini, E.; Macchiaiolo, M.; Pizzi, S.; Leoni, C.; Niceta, M.; Pantaleoni, F.; Radio, F.; Capuano, A.; Onesimo, R.; Digilio, M.; Novelli, Antonio; Zampino, G.; Bartuli, A.; Dallapiccola, B.; Tartaglia, M. | |
| ROLE OF INTRAOPERATIVE ULTRASOUND TO EXTEND MINIMALLY INVASIVE SURGERY FOR TREATMENT OF RECURRENT GYNECOLOGICAL CANCER | 1-gen-2017 | Mascilini, F.; Moro, Francesca; Quagliozzi, L.; Cristina, M. M.; Di Siena, A.; De Leo, R.; Scambia, G.; Testa, A. C.; Fagotti, A. | |
| Contribution of CMA to genetic diagnosis of individuals with dysmorphisms: a collaborative study of the SIGU (Italian Society of Human Genetics) Cytogenetic and Cytogenomic working group | 1-gen-2019 | Garzo, M.; Catusi, I.; Recalcati, M.; Alfonsi, M.; Alghisi, A.; Cappellani, S.; Casalone, R.; Caselli, R.; Ceccarini, C.; Ceglia, C.; Ciaschini, A.; Coviello, D.; Crosti, F.; D'Aprile, A.; Fabretto, A.; Genesio, R.; Giagnacovo, M.; Granata, P.; Longo, I.; Malacarne, M.; Marseglia, G.; Montaldi, A.; Nardone, A.; Palka, C.; Pecile, V.; Pessina, C.; Postorivo, D.; Redaelli, S.; Renieri, A.; Rigon, C.; Tiberi, F.; Tonelli, M.; Valtorta, C.; Villa, N.; Zilio, A.; Zuccarello, D.; Novelli, Antonio; Larizza, L.; Giardino, D. | |
| CD28 Null T Lymphocytes Are Expanded in Young Women with Polycystic Ovary Syndrome | 1-gen-2009 | Sagnella, Francesca; Tropea, Anna; Orlando, Mariateresa; Moro, Francesca; Martinez, Daniela; Morciano, Andrea; Stifani, Francesco; Spadoni, Valentina; Gangale, Maria Francesca; Lanzone, Antonio; Apa, Rosanna | |
| Glycogen storage disease type III: identification of the first case of uniparental disomy and two novel deletions | 1-gen-2019 | Ponzi, E.; Maiorana, A.; Alesi, V.; Lepri, F.; Genovese, S.; Loddo, S.; Mucciolo, M.; Novelli, Antonio; Dionisi-Vici, C. | |
| Three new cases of interstitial microdeletion 4p16.3 contributing to a genotype phenotype correlation of WHS critical region of deletion | 1-gen-2017 | Bernardini, Laura; Digilio, Maria Cristina; Radio, Francesca Clementina; Acquaviva, Fabio; Gorgone, Cristina; Postorivo, Diana; Torres, Barbara; Alesi, Viola; Nardone, Anna Maria; Mattina, Teresa; Scarano, Gioacchino; Novelli, Antonio; Dallapiccola, Bruno | |
| Ultrasound and 3D SPECT/CT Fusion to identify sentinel lymph nodes in vulvar cancer: a feasibility study | 1-gen-2019 | Garganese, G.; Bove, S.; Zagaria, L.; Moro, Francesca; Fragomeni, S. M.; Ieria, F. P.; Gentileschi, S.; Romeo, P.; Di Giorgio, D.; Giordano, A.; Scambia, G.; Testa, A. C. | |
| Isolated CDH1 germline small deletion in a family with early onset breast cancer detected by Array-CGH | 1-gen-2009 | Palka, C.; Calabrese, G.; Novelli, Antonio; Morizio, E.; Franchi, P. G.; Fantasia, D.; Gatta, V.; Palka, G.; Dallapiccola, B. | |
| Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (sHLH) | 1-gen-2018 | Passarelli, Chiara; Pardeo, Manuela; Caiello, Ivan; Pisaneschi, Elisa; Insalaco, Antonella; Minoia, Francesca; Taddio, Andrea; Licciardi, Francesco; Novelli, Antonio; De Benedetti, Fabrizio; Bracaglia, Claudia | |
| Craniofacial appearance of a Developmental Disorder of Chromatin Remodeling in a girl with syndromic intellectual disability and a novel de novo microrearrangement encompassing HNRNPC gene | 1-gen-2019 | Agolini, E.; Fleischer, N.; Pierantoni, R.; Loddo, S.; Novelli, Antonio; Bernardini, L.; Majore, S.; Grammatico, P.; Pascolini, G. | |
| Insulin-dependent diabetes mellitus affects H-pylori eradication rate | 1-gen-1998 | Ojetti, Veronica; Gasbarrini, A.; Pitocco, D.; Franceschi, F.; Sanz Torre, E.; Candelli, M.; Ghirlanda, G.; Gasbarrini, G. | |
| Hermansky-Pudlak Syndrome Subtype 4 (HPS-4): A Novel Mutation in a 44 Years Old Italian Woman with Severe Pulmonary Fibrosis | 1-gen-2019 | Leone, P. M.; Magnini, D.; Agolini, E.; Sgalla, G.; Iovene, B.; Varone, F.; Novelli, Antonio; Richeldi, L. | |
| Molecular cytogenetic characterization of two cases with cryptic rearrangements of the 6q subtelomeric region | 1-gen-2002 | Grammatico, P.; Novelli, Antonio; Poscente, M.; Ceccarini, C.; De Bernard, C.; Dallapiccola, B. | |
| NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers | 1-gen-2017 | Tommerup, Niels; Fonseca, Ana Carolina; Mehrjouy, Mana; Rasmussen, Malene B.; Bache, Iben; Halgren, Christina; Kroisel, Peter; Midyan, Susanna; Vermeesch, Joris; Vianna-Morgante, Angela M.; Abe, Kikue T.; Moretti-Ferreira, Danilo; Paskulin, Giorgio; Angelova, Lyudmila; Rajcan-Separovic, Evica; Sismani, Carolina; Sedlacek, Zdenek; Fagerberg, Christina; Brondum-Nielsen, Karen; Vogel, Ida; Bojesen, Anders; Ounap, Katrin; Roht, Laura; Varilo, Teppo; Luukkonen, Tiia; Lespinasse, James; Beneteau, Claire; Kalscheuer, Vera M.; Ehmke, Nadja; Daumer-Haas, Cornelia; Stefanou, Eunice G.; Marta, Czako; Kosztolanyi, Gyorgy; Sheth, Frenny; Zuffardi, Orsetta; Bonaglia, Clara; Novelli, Antonio; Fannemel, Madeleine; Dias, Patricia; Kokalj-Vokac, Nadja; Ramos-Arroyo, Maria A.; Rodriguez Martinez, Laura; Guitart, Miriam; Schinzel, Albert; Engelen, John; Silan, Fatma; Akkari, Yassmine; Batanian, Jacqueline R.; Kim, Hyung-Goo; Aristidou, Constantia; De Almeida, Cynthia; Lewis, Suzanne; Moreno-Igoa, Maria; Hovhannisyan, Anna; Jacky, Peter; Bak, Mads |
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- 4 Contributo in Atti di Convegno ...477
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- 2010 - 2019228
- 2000 - 2009100
- 1990 - 199992
- 1983 - 198926
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- E-AHPB Association7
- ENETS6
- Oxford University Press6
- ELSEVIER FRANCE-EDITIONS SCIENTIF...5
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- Edoardo Ascari2
- European Society of Endocrine Sur...2
- OXFORD UNIV PRESS2
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- HUMAN REPRODUCTION21
- INTERNATIONAL JOURNAL OF GYNECOLO...17
- EUROPEAN JOURNAL OF HUMAN GENETICS11
- EUROPEAN PSYCHIATRY8
- EUROPEAN PSYCHIATRY6
- MAGNESIUM RESEARCH6
- REPRODUCTIVE SCIENCES5
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- HAEMATOLOGICA3
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- Gynecology4
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- 2D western blot3
- B7-H33
- emotion regulation3
- HLA-E3
- alzheimer2
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