FALETRA, Flavio
FALETRA, Flavio
DMED - DIPARTIMENTO DI MEDICINA
"blaschkoid dyspigmentation" in a child: Don't forget fibroblast chromosomal analysis
2015-01-01 Gortani, G.; Faletra, F.; Bruno, I.; Berti, I.; Ventura, A.
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
2024-01-01 Zucco, J.; Baldan, F.; Allegri, L.; Bregant, E.; Passon, N.; Franzoni, A.; D'Elia, A. V.; Faletra, F.; Damante, G.; Mio, C.
A brain and heart connection: X-linked periventricular heterotopia
2015-01-01 Naviglio, S.; Bruno, I.; Zanus, C.; Faletra, F.; Ventura, A.
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation
2010-01-01 Fabretto, A.; Shardlow, A.; Faletra, F.; Lepore, L.; Hladnik, U.; Gasparini, P.
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.
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet
2020-01-01 Tornese, G.; Patti, G.; Pellegrin, M. C.; Costa, P.; Faletra, F.; Faleschini, E.; Barbi, E.
A Child With Self-Improving Hypotonia: Look at the Skin!
2020-01-01 Conversano, E.; Agrusti, A.; Conti, R.; Magnolato, A.; Bruno, I.; Colombi, M.; Barbi, E.; Faletra, F.
A child without kneecaps
2022-01-01 Baldo, F.; Magnolato, A.; Bruno, I.; Faletra, F.; Carbone, M.; Barbi, E.
A girl with photosensitivity and hepatic steatosis
2014-01-01 Pavan, M.; Gortani, G.; Rubinato, E.; Faletra, F.; Pastore, S.; Ventura, A.
A neonate with a 'milky' blood. What can it be?
2014-01-01 Bordugo, A.; Carlin, E.; Demarini, S.; Faletra, F.; Colonna, F.
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature
2011-01-01 Faletra, F.; Devescovi, R.; Pecile, V.; Fabretto, A.; Carrozzi, M.; Gasparini, P.
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease
2021-01-01 Morgan, A.; Dipresa, S.; Turolla, L.; La Bianca, M.; Faletra, F.; Girotto, G.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79
2023-01-01 Bayat, A.; Liu, Z.; Luo, S.; Fenger, C. D.; H?jte, A. F.; Isidor, B.; Cogne, B.; Larson, A.; Zanus, C.; Faletra, F.; Keren, B.; Musante, L.; Gourfinkel-An, I.; Perrine, C.; Demily, C.; Lesca, G.; Liao, W.; Ren, D.
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family
2013-01-01 Faletra, F.; D'Adamo, A. P.; Pensiero, S.; Athanasakis, E.; Catalano, D.; Bruno, I.; Gasparini, P.
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.
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family
2011-01-01 Faletra, F.; Pirastu, N.; Athanasakis, E.; Somaschini, A.; Pianigiani, G.; Gasparini, P.
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss
2014-01-01 Faletra, F.; Girotto, G.; D'Adamo, A. P.; Vozzi, D.; Morgan, A.; Gasparini, P.
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant.
2025-01-01 Mio, Catia; Orsaria, Maria; Franzoni, Alessandra; Bregant, Elisa; Betto, Elena; Zucco, Jessica; Demori, Eliana; Damante, Giuseppe; Faletra, Flavio
A red baby should not be taken too lightly
2012-01-01 Faletra, F.; Bruno, I.; Berti, I.; Pastore, S.; Pirrone, A.; Tommasini, A.
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements
2012-01-01 Fortugno, P.; Grosso, F.; Zambruno, G.; Pastore, S.; Faletra, F.; Castiglia, D.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| "blaschkoid dyspigmentation" in a child: Don't forget fibroblast chromosomal analysis | 1-gen-2015 | Gortani, G.; Faletra, F.; Bruno, I.; Berti, I.; Ventura, A. | |
| A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases | 1-gen-2024 | Zucco, J.; Baldan, F.; Allegri, L.; Bregant, E.; Passon, N.; Franzoni, A.; D'Elia, A. V.; Faletra, F.; Damante, G.; Mio, C. | |
| A brain and heart connection: X-linked periventricular heterotopia | 1-gen-2015 | Naviglio, S.; Bruno, I.; Zanus, C.; Faletra, F.; Ventura, A. | |
| A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation | 1-gen-2010 | Fabretto, A.; Shardlow, A.; Faletra, F.; Lepore, L.; Hladnik, U.; Gasparini, P. | |
| 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. | |
| A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet | 1-gen-2020 | Tornese, G.; Patti, G.; Pellegrin, M. C.; Costa, P.; Faletra, F.; Faleschini, E.; Barbi, E. | |
| A Child With Self-Improving Hypotonia: Look at the Skin! | 1-gen-2020 | Conversano, E.; Agrusti, A.; Conti, R.; Magnolato, A.; Bruno, I.; Colombi, M.; Barbi, E.; Faletra, F. | |
| A child without kneecaps | 1-gen-2022 | Baldo, F.; Magnolato, A.; Bruno, I.; Faletra, F.; Carbone, M.; Barbi, E. | |
| A girl with photosensitivity and hepatic steatosis | 1-gen-2014 | Pavan, M.; Gortani, G.; Rubinato, E.; Faletra, F.; Pastore, S.; Ventura, A. | |
| A neonate with a 'milky' blood. What can it be? | 1-gen-2014 | Bordugo, A.; Carlin, E.; Demarini, S.; Faletra, F.; Colonna, F. | |
| A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature | 1-gen-2011 | Faletra, F.; Devescovi, R.; Pecile, V.; Fabretto, A.; Carrozzi, M.; Gasparini, P. | |
| A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease | 1-gen-2021 | Morgan, A.; Dipresa, S.; Turolla, L.; La Bianca, M.; Faletra, F.; Girotto, G. | |
| A new neurodevelopmental disorder linked to heterozygous variants in UNC79 | 1-gen-2023 | Bayat, A.; Liu, Z.; Luo, S.; Fenger, C. D.; H?jte, A. F.; Isidor, B.; Cogne, B.; Larson, A.; Zanus, C.; Faletra, F.; Keren, B.; Musante, L.; Gourfinkel-An, I.; Perrine, C.; Demily, C.; Lesca, G.; Liao, W.; Ren, D. | |
| A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family | 1-gen-2013 | Faletra, F.; D'Adamo, A. P.; Pensiero, S.; Athanasakis, E.; Catalano, D.; Bruno, I.; Gasparini, P. | |
| 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. | |
| A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family | 1-gen-2011 | Faletra, F.; Pirastu, N.; Athanasakis, E.; Somaschini, A.; Pianigiani, G.; Gasparini, P. | |
| A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss | 1-gen-2014 | Faletra, F.; Girotto, G.; D'Adamo, A. P.; Vozzi, D.; Morgan, A.; Gasparini, P. | |
| A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant. | 1-gen-2025 | Mio, Catia; Orsaria, Maria; Franzoni, Alessandra; Bregant, Elisa; Betto, Elena; Zucco, Jessica; Demori, Eliana; Damante, Giuseppe; Faletra, Flavio | |
| A red baby should not be taken too lightly | 1-gen-2012 | Faletra, F.; Bruno, I.; Berti, I.; Pastore, S.; Pirrone, A.; Tommasini, A. | |
| A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements | 1-gen-2012 | Fortugno, P.; Grosso, F.; Zambruno, G.; Pastore, S.; Faletra, F.; Castiglia, D. |