MONTANARI, FRANCESCA
MONTANARI, FRANCESCA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts
2025 Cristalli, C. P.; Calabrese, S.; Caramanna, L.; Pietra, A.; Vitetta, G.; De Nicolo, B.; Bonora, E.; Severi, G.; Menabo, S.; Ferrari, S.; Ciurli, F.; Aiello, V.; Capelli, I.; Pasini, A.; Alberici, I.; Pillon, R.; La Scola, C.; Rossi, C.; Montanari, F.; Graziano, C.
The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease
2025 Berti, Gian Marco; Aiello, Valeria; Vischini, Gisella; Lerario, Sarah; Ciurli, Francesca; Santostefano, Marisa; Donadio, Vincenzo; Biagini, Elena; Fresina, Michela; Fabbrizio, Benedetta; Montanari, Francesca; Turchetti, Daniela; Pasquinelli, Gianandrea; Mignani, Renzo; La Manna, Gaetano; Capelli, Irene
The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease
2025 Righini, M.; Corsi, C.; Sciascia, N.; Aiello, V.; Ciurli, F.; Lerario, S.; Berti, G. M.; Montanari, F.; Conti, A.; Cristalli, C. P.; Menabò, S.; Caramanna, L.; Tondolo, F.; Turchetti, D.; La Manna, G.; Capelli, I.
Fabry disease: a rare disorder calling for personalized medicine
2024 Lerario, Sarah; Monti, Luigi; Ambrosetti, Irene; Luglio, Agnese; Pietra, Andrea; Aiello, Valeria; Montanari, Francesca; Bellasi, Antonio; Zaza, Gianluigi; Galante, Antonio; Salera, Davide; Capelli, Irene; La Manna, Gaetano; Provenzano, Michele
Ultrasound features of a bilineal inheritance of autosomal dominant polycystic kidney disease
2024 Montaguti, Elisa; Montanari, Francesca; Bernardi, Vito; Luppi, Elena; De Benedetti, Pierandrea; Lanzoni, Giulia; Seri, Marco; Pilu, Gianluigi
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles
2023 Ambrosini E.; Montanari F.; Cristalli C.P.; Capelli I.; La Scola C.; Pasini A.; Graziano C.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
2023 Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
2022 Orsini, Alessandro; Santangelo, Andrea; Bravin, Francesca; Bonuccelli, Alice; Peroni, Diego; Battini, Roberta; Foiadelli, Thomas; Bertini, Veronica; Valetto, Angelo; Iacomino, Michele; Nigro, Vincenzo; Torella, Anna Laura; Scala, Marcello; Capra, Valeria; Vari, Maria Stella; Fetta, Anna; Di Pisa, Veronica; Montanari, Francesca; Epifanio, Roberta; Bonanni, Paolo; Giorda, Roberto; Operto, Francesca; Pastorino, Grazia; Sarigecili, Esra; Sardaroglu, Esra; Okuyaz, Cetin; Bozdogan, Sevgan; Musante, Luciana; Faletra, Flavio; Zanus, Caterina; Ferretti, Alessandro; Vigevano, Federico; Striano, Pasquale; Cordelli, Duccio Maria
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
2020 Cuvertino S.; Hartill V.; Colyer A.; Garner T.; Nair N.; Al-Gazali L.; Canham N.; Faundes V.; Flinter F.; Hertecant J.; Holder-Espinasse M.; Jackson B.; Lynch S.A.; Nadat F.; Narasimhan V.M.; Peckham M.; Sellers R.; Seri M.; Montanari F.; Southgate L.; Squeo G.M.; Trembath R.; van Heel D.; Venuto S.; Weisberg D.; Stals K.; Ellard S.; Barton A.; Kimber S.J.; Sheridan E.; Merla G.; Stevens A.; Johnson C.A.; Banka S.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts | Cristalli, C. P.; Calabrese, S.; Caramanna, L.; Pietra, A.; Vitetta, G.; De Nicolo, B.; Bonora, E....; Severi, G.; Menabo, S.; Ferrari, S.; Ciurli, F.; Aiello, V.; Capelli, I.; Pasini, A.; Alberici, I.; Pillon, R.; La Scola, C.; Rossi, C.; Montanari, F.; Graziano, C. | 2025-01-01 | GENES | - | 1.01 Articolo in rivista | Capelli_Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.pdf; genes-16-00472-s001.zip |
| The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease | Berti, Gian Marco; Aiello, Valeria; Vischini, Gisella; Lerario, Sarah; Ciurli, Francesca; Santost...efano, Marisa; Donadio, Vincenzo; Biagini, Elena; Fresina, Michela; Fabbrizio, Benedetta; Montanari, Francesca; Turchetti, Daniela; Pasquinelli, Gianandrea; Mignani, Renzo; La Manna, Gaetano; Capelli, Irene | 2025-01-01 | BMC NEPHROLOGY | - | 1.01 Articolo in rivista | s12882-025-04009-2.pdf |
| The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease | Righini, M.; Corsi, C.; Sciascia, N.; Aiello, V.; Ciurli, F.; Lerario, S.; Berti, G. M.; Montanar...i, F.; Conti, A.; Cristalli, C. P.; Menabò, S.; Caramanna, L.; Tondolo, F.; Turchetti, D.; La Manna, G.; Capelli, I. | 2025-01-01 | JN. JOURNAL OF NEPHROLOGY | - | 1.01 Articolo in rivista | s40620-024-02181-6.pdf |
| Fabry disease: a rare disorder calling for personalized medicine | Lerario, Sarah; Monti, Luigi; Ambrosetti, Irene; Luglio, Agnese; Pietra, Andrea; Aiello, Valeria;... Montanari, Francesca; Bellasi, Antonio; Zaza, Gianluigi; Galante, Antonio; Salera, Davide; Capelli, Irene; La Manna, Gaetano; Provenzano, Michele | 2024-01-01 | INTERNATIONAL UROLOGY AND NEPHROLOGY | - | 1.01 Articolo in rivista | Capelli_Fabry disease a rare disorder calling for personalized medicine.pdf |
| Ultrasound features of a bilineal inheritance of autosomal dominant polycystic kidney disease | Montaguti, Elisa; Montanari, Francesca; Bernardi, Vito; Luppi, Elena; De Benedetti, Pierandrea; L...anzoni, Giulia; Seri, Marco; Pilu, Gianluigi | 2024-01-01 | EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY | - | 1.01 Articolo in rivista | - |
| Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles | Ambrosini E.; Montanari F.; Cristalli C.P.; Capelli I.; La Scola C.; Pasini A.; Graziano C. | 2023-01-01 | GENES | - | 1.01 Articolo in rivista | genes-14-01230.pdf |
| SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability | Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pont...us; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio | 2023-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | 1-s2.0-S0002929723001003-main.pdf; ScienceDirect_files_28Mar2024_10-57-49.923.zip |
| Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients | Orsini, Alessandro; Santangelo, Andrea; Bravin, Francesca; Bonuccelli, Alice; Peroni, Diego; Batt...ini, Roberta; Foiadelli, Thomas; Bertini, Veronica; Valetto, Angelo; Iacomino, Michele; Nigro, Vincenzo; Torella, Anna Laura; Scala, Marcello; Capra, Valeria; Vari, Maria Stella; Fetta, Anna; Di Pisa, Veronica; Montanari, Francesca; Epifanio, Roberta; Bonanni, Paolo; Giorda, Roberto; Operto, Francesca; Pastorino, Grazia; Sarigecili, Esra; Sardaroglu, Esra; Okuyaz, Cetin; Bozdogan, Sevgan; Musante, Luciana; Faletra, Flavio; Zanus, Caterina; Ferretti, Alessandro; Vigevano, Federico; Striano, Pasquale; Cordelli, Duccio Maria | 2022-01-01 | GENES | - | 1.01 Articolo in rivista | genes-13-00276.pdf; genes-13-00276-s001.zip |
| A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome | Cuvertino S.; Hartill V.; Colyer A.; Garner T.; Nair N.; Al-Gazali L.; Canham N.; Faundes V.; Fli...nter F.; Hertecant J.; Holder-Espinasse M.; Jackson B.; Lynch S.A.; Nadat F.; Narasimhan V.M.; Peckham M.; Sellers R.; Seri M.; Montanari F.; Southgate L.; Squeo G.M.; Trembath R.; van Heel D.; Venuto S.; Weisberg D.; Stals K.; Ellard S.; Barton A.; Kimber S.J.; Sheridan E.; Merla G.; Stevens A.; Johnson C.A.; Banka S. | 2020-01-01 | GENETICS IN MEDICINE | - | 1.01 Articolo in rivista | s41436-019-0743-3.pdf; 41436_2019_743_MOESM1_ESM.docx |