Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
2022-01-01 Ferilli, M.; Ciolfi, A.; Pedace, L.; Niceta, M.; Radio, F. C.; Pizzi, S.; Miele, E.; Cappelletti, C.; Mancini, C.; Galluccio, T.; Andreani, M.; Iascone, M.; Chiriatti, L.; Novelli, A.; Micalizzi, A.; Matraxia, M.; Menale, L.; Faletra, F.; Prontera, P.; Pilotta, A.; Bedeschi, M. F.; Capolino, R.; Baban, A.; Seri, M.; Mammi, C.; Zampino, G.; Digilio, M. C.; Dallapiccola, B.; Priolo, M.; Tartaglia, M.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
2022-01-01 Von Der Lippe, C.; Tveten, K.; Prescott, T. E.; Holla, O. L.; Busk, O. L.; Burke, K. B.; Sansbury, F. H.; Baptista, J.; Fry, A. E.; Lim, D.; Jolles, S.; Evans, J.; Osio, D.; Macmillan, C.; Bruno, I.; Faletra, F.; Climent, S.; Urreitzi, R.; Hoenicka, J.; Palau, F.; Cohen, A. S. A.; Engleman, K.; Zhou, D.; Amudhavalli, S. M.; Jeanne, M.; Bonnet-Brilhault, F.; Levy, J.; Drunat, S.; Derive, N.; Haug, M. G.; Thorstensen, W. M.
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature
2023-01-01 Fantasia, I.; Faletra, F.; Bussani, R.; Murru, F. M.; Ottaviani Giammarco, C.; Travan, L.; Sirchia, F.; Feresin, A.; Stampalija, T.
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
2021-01-01 Valencic, E.; Da Lozzo, P.; Tornese, G.; Ghirigato, E.; Facca, F.; Piscianz, E.; Faletra, F.; Taddio, A.; Tommasini, A.; Magnolato, A.
A red baby should not be taken too lightly
2012-01-01 Faletra, F.; Bruno, I.; Berti, I.; Pastore, S.; Pirrone, A.; Tommasini, A.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
2023-01-01 Bogaert, E.; Garde, A.; Gautier, T.; Rooney, K.; Duffourd, Y.; Leblanc, P.; Van Reempts, E.; Tran Mau-Them, F.; Wentzensen, I. M.; Au, K. S.; Richardson, K.; Northrup, H.; Gatinois, V.; Genevieve, D.; Louie, R. J.; Lyons, M. J.; Laulund, L. W.; Brasch-Andersen, C.; Maxel Juul, T.; El It, F.; Marle, N.; Callier, P.; Relator, R.; Haghshenas, S.; Mcconkey, H.; Kerkhof, J.; Cesario, C.; Novelli, A.; Brunetti-Pierri, N.; Pinelli, M.; Pennamen, P.; Naudion, S.; Legendre, M.; Courdier, C.; Trimouille, A.; Fenzy, M. D.; Pais, L.; Yeung, A.; Nugent, K.; Roeder, E. R.; Mitani, T.; Posey, J. E.; Calame, D.; Yonath, H.; Rosenfeld, J. A.; Musante, L.; Faletra, F.; Montanari, F.; Sartor, G.; Vancini, A.; Seri, M.; Besmond, C.; Poirier, K.; Hubert, L.; Hemelsoet, D.; Munnich, A.; Lupski, J. R.; Philippe, C.; Thauvin-Robinet, C.; Faivre, L.; Sadikovic, B.; Govin, J.; Dermaut, B.; Vitobello, A.
Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis
2015-01-01 Palagano, E.; Blair, H. C.; Pangrazio, A.; Tourkova, I.; Strina, D.; Angius, A.; Cuccuru, G.; Oppo, M.; Uva, P.; Van Hul, W.; Boudin, E.; Superti-Furga, A.; Faletra, F.; Nocerino, A.; Ferrari, M. C.; Grappiolo, G.; Monari, M.; Montanelli, A.; Vezzoni, P.; Villa, A.; Sobacchi, C.
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature
2022-01-01 Baldo, F.; Morra, L.; Feresin, A.; Faletra, F.; Al Naber, Y.; Memo, L.; Travan, L.
Afebrile seizures in infants: Never forget magnesium!
2018-01-01 Minute, M.; Ventura, G.; Giorgi, R.; Faletra, F.; Costa, P.; Cozzi, G.
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4
2019-01-01 Bottega, R.; Perrone, M. D.; Vecchiato, K.; Taddio, A.; Sabui, S.; Pecile, V.; Said, H. M.; Faletra, F.
A case of prenatal neurocytoma associated with ATR-16 syndrome
2016-01-01 Quadrifoglio, M.; Faletra, F.; Bussani, R.; Pecile, V.; Zennaro, F.; Grasso, A.; Zandona, L.; Alberico, S.; Stampalija, T.
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature
2012-01-01 Perrone, M. D.; Rocca, M. S.; Bruno, I.; Faletra, F.; Pecile, V.; Gasparini, P.
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort
2013-01-01 Faletra, F.; Athanasakis, E.; Morgan, A.; Biarnes, X.; Fornasier, F.; Parini, R.; Furlan, F.; Boiani, A.; Maiorana, A.; Dionisi-Vici, C.; Giordano, L.; Burlina, A.; Ventura, A.; Gasparini, P.
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
2021-01-01 Sirchia, F.; Fantasia, I.; Feresin, A.; Giorgio, E.; Faletra, F.; Mordeglia, D.; Barbieri, M.; Guida, V.; De Luca, A.; Stampalija, T.
"blaschkoid dyspigmentation" in a child: Don't forget fibroblast chromosomal analysis
2015-01-01 Gortani, G.; Faletra, F.; Bruno, I.; Berti, I.; Ventura, A.
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia
2021-01-01 Bottega, R.; Ravera, S.; Napolitano, L. M. R.; Chiappetta, V.; Zini, N.; Crescenzi, B.; Arniani, S.; Faleschini, M.; Cortone, G.; Faletra, F.; Medagli, B.; Sirchia, F.; Moretti, M.; De Lange, J.; Cappelli, E.; Mecucci, C.; Onesti, S.; Pisani, F. M.; Savoia, A.
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta
2014-01-01 Rubinato, E.; Morgan, A.; D'Eustacchio, A.; Pecile, V.; Gortani, G.; Gasparini, P.; Faletra, F.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families
2020-01-01 Mantovani, V.; Bin, S.; Graziano, C.; Capelli, I.; Minardi, R.; Aiello, V.; Ambrosini, E.; Cristalli, C. P.; Mattiaccio, A.; Pariali, M.; De Fanti, S.; Faletra, F.; Grosso, E.; Cantone, R.; Mancini, E.; Mencarelli, F.; Pasini, A.; Wischmeijer, A.; Sciascia, N.; Seri, M.; La Manna, G.
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma
2018-01-01 Verzegnassi, F.; Valencic, E.; Kiren, V.; Giurici, N.; Bianco, A. M.; Marcuzzi, A.; Vozzi, D.; Tommasini, A.; Faletra, F.
Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1
2021-01-01 Polizzi, S.; Caputo, R.; Faletra, F.; Ferrara, G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants | 1-gen-2022 | Ferilli, M.; Ciolfi, A.; Pedace, L.; Niceta, M.; Radio, F. C.; Pizzi, S.; Miele, E.; Cappelletti, C.; Mancini, C.; Galluccio, T.; Andreani, M.; Iascone, M.; Chiriatti, L.; Novelli, A.; Micalizzi, A.; Matraxia, M.; Menale, L.; Faletra, F.; Prontera, P.; Pilotta, A.; Bedeschi, M. F.; Capolino, R.; Baban, A.; Seri, M.; Mammi, C.; Zampino, G.; Digilio, M. C.; Dallapiccola, B.; Priolo, M.; Tartaglia, M. | |
| Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin | 1-gen-2022 | Von Der Lippe, C.; Tveten, K.; Prescott, T. E.; Holla, O. L.; Busk, O. L.; Burke, K. B.; Sansbury, F. H.; Baptista, J.; Fry, A. E.; Lim, D.; Jolles, S.; Evans, J.; Osio, D.; Macmillan, C.; Bruno, I.; Faletra, F.; Climent, S.; Urreitzi, R.; Hoenicka, J.; Palau, F.; Cohen, A. S. A.; Engleman, K.; Zhou, D.; Amudhavalli, S. M.; Jeanne, M.; Bonnet-Brilhault, F.; Levy, J.; Drunat, S.; Derive, N.; Haug, M. G.; Thorstensen, W. M. | |
| Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature | 1-gen-2023 | Fantasia, I.; Faletra, F.; Bussani, R.; Murru, F. M.; Ottaviani Giammarco, C.; Travan, L.; Sirchia, F.; Feresin, A.; Stampalija, T. | |
| Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies | 1-gen-2021 | Valencic, E.; Da Lozzo, P.; Tornese, G.; Ghirigato, E.; Facca, F.; Piscianz, E.; Faletra, F.; Taddio, A.; Tommasini, A.; Magnolato, A. | |
| A red baby should not be taken too lightly | 1-gen-2012 | Faletra, F.; Bruno, I.; Berti, I.; Pastore, S.; Pirrone, A.; Tommasini, A. | |
| SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability | 1-gen-2023 | Bogaert, E.; Garde, A.; Gautier, T.; Rooney, K.; Duffourd, Y.; Leblanc, P.; Van Reempts, E.; Tran Mau-Them, F.; Wentzensen, I. M.; Au, K. S.; Richardson, K.; Northrup, H.; Gatinois, V.; Genevieve, D.; Louie, R. J.; Lyons, M. J.; Laulund, L. W.; Brasch-Andersen, C.; Maxel Juul, T.; El It, F.; Marle, N.; Callier, P.; Relator, R.; Haghshenas, S.; Mcconkey, H.; Kerkhof, J.; Cesario, C.; Novelli, A.; Brunetti-Pierri, N.; Pinelli, M.; Pennamen, P.; Naudion, S.; Legendre, M.; Courdier, C.; Trimouille, A.; Fenzy, M. D.; Pais, L.; Yeung, A.; Nugent, K.; Roeder, E. R.; Mitani, T.; Posey, J. E.; Calame, D.; Yonath, H.; Rosenfeld, J. A.; Musante, L.; Faletra, F.; Montanari, F.; Sartor, G.; Vancini, A.; Seri, M.; Besmond, C.; Poirier, K.; Hubert, L.; Hemelsoet, D.; Munnich, A.; Lupski, J. R.; Philippe, C.; Thauvin-Robinet, C.; Faivre, L.; Sadikovic, B.; Govin, J.; Dermaut, B.; Vitobello, A. | |
| Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis | 1-gen-2015 | Palagano, E.; Blair, H. C.; Pangrazio, A.; Tourkova, I.; Strina, D.; Angius, A.; Cuccuru, G.; Oppo, M.; Uva, P.; Van Hul, W.; Boudin, E.; Superti-Furga, A.; Faletra, F.; Nocerino, A.; Ferrari, M. C.; Grappiolo, G.; Monari, M.; Montanelli, A.; Vezzoni, P.; Villa, A.; Sobacchi, C. | |
| Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature | 1-gen-2022 | Baldo, F.; Morra, L.; Feresin, A.; Faletra, F.; Al Naber, Y.; Memo, L.; Travan, L. | |
| Afebrile seizures in infants: Never forget magnesium! | 1-gen-2018 | Minute, M.; Ventura, G.; Giorgi, R.; Faletra, F.; Costa, P.; Cozzi, G. | |
| Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 | 1-gen-2019 | Bottega, R.; Perrone, M. D.; Vecchiato, K.; Taddio, A.; Sabui, S.; Pecile, V.; Said, H. M.; Faletra, F. | |
| A case of prenatal neurocytoma associated with ATR-16 syndrome | 1-gen-2016 | Quadrifoglio, M.; Faletra, F.; Bussani, R.; Pecile, V.; Zennaro, F.; Grasso, A.; Zandona, L.; Alberico, S.; Stampalija, T. | |
| De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature | 1-gen-2012 | Perrone, M. D.; Rocca, M. S.; Bruno, I.; Faletra, F.; Pecile, V.; Gasparini, P. | |
| Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort | 1-gen-2013 | Faletra, F.; Athanasakis, E.; Morgan, A.; Biarnes, X.; Fornasier, F.; Parini, R.; Furlan, F.; Boiani, A.; Maiorana, A.; Dionisi-Vici, C.; Giordano, L.; Burlina, A.; Ventura, A.; Gasparini, P. | |
| Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis | 1-gen-2021 | Sirchia, F.; Fantasia, I.; Feresin, A.; Giorgio, E.; Faletra, F.; Mordeglia, D.; Barbieri, M.; Guida, V.; De Luca, A.; Stampalija, T. | |
| "blaschkoid dyspigmentation" in a child: Don't forget fibroblast chromosomal analysis | 1-gen-2015 | Gortani, G.; Faletra, F.; Bruno, I.; Berti, I.; Ventura, A. | |
| Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia | 1-gen-2021 | Bottega, R.; Ravera, S.; Napolitano, L. M. R.; Chiappetta, V.; Zini, N.; Crescenzi, B.; Arniani, S.; Faleschini, M.; Cortone, G.; Faletra, F.; Medagli, B.; Sirchia, F.; Moretti, M.; De Lange, J.; Cappelli, E.; Mecucci, C.; Onesti, S.; Pisani, F. M.; Savoia, A. | |
| A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta | 1-gen-2014 | Rubinato, E.; Morgan, A.; D'Eustacchio, A.; Pecile, V.; Gortani, G.; Gasparini, P.; Faletra, F. | |
| Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families | 1-gen-2020 | Mantovani, V.; Bin, S.; Graziano, C.; Capelli, I.; Minardi, R.; Aiello, V.; Ambrosini, E.; Cristalli, C. P.; Mattiaccio, A.; Pariali, M.; De Fanti, S.; Faletra, F.; Grosso, E.; Cantone, R.; Mancini, E.; Mencarelli, F.; Pasini, A.; Wischmeijer, A.; Sciascia, N.; Seri, M.; La Manna, G. | |
| The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma | 1-gen-2018 | Verzegnassi, F.; Valencic, E.; Kiren, V.; Giurici, N.; Bianco, A. M.; Marcuzzi, A.; Vozzi, D.; Tommasini, A.; Faletra, F. | |
| Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1 | 1-gen-2021 | Polizzi, S.; Caputo, R.; Faletra, F.; Ferrara, G. |
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