SEVERI, GIULIA
SEVERI, GIULIA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Familial DMRT1-related non-obstructive azoospermia: a case report
2024 Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield
2023 Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graziano, Marco seri, Pamela Magini
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
2023 Diquigiovanni C.; Rizzardi N.; Kampmeier A.; Liparulo I.; Bianco F.; De Nicolo B.; Cataldi-Stagetti E.; Cuna E.; Severi G.; Seri M.; Bertrand M.; Haack T.B.; Marina A.D.; Braun F.; Fato R.; Kuechler A.; Bergamini C.; Bonora E.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
2022 Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-García, Marta; Magini, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernández-Jaén, Alberto; Rory, Olson J; Hallgrímsson, Benedikt; Birnbaum, Ramon Y
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder.
2021 Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, Bonora E.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
2020 Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; Cantalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M.
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late
2020 Minardi R.; Licchetta L.; Baroni M.C.; Pippucci T.; Stipa C.; Mostacci B.; Severi G.; Toni F.; Bergonzini L.; Carelli V.; Seri M.; Tinuper P.; Bisulli F.
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
2019 Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Graziano C.
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature
2017 Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara, Milena; Seri, Marco; Rossi, Cesare
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer
2016 Severi, Giulia; Bernardini, Laura; Briuglia, Silvana; Bigoni, Stefania; Buldrini, Barbara; Magini, Pamela; Dentici, Maria L.; Cordelli, Duccio M.; Arrigo, Teresa; Franzoni, Emilio; Fini, Sergio; Italyankina, Eleonora; Loddo, Italia; Novelli, Antonio; Graziano, Claudio*
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Familial DMRT1-related non-obstructive azoospermia: a case report | Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni | 2024-01-01 | JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | - | 1.01 Articolo in rivista | - |
| Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield | Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graz...iano, Marco seri, Pamela Magini | 2023-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.06 Abstract in rivista | - |
| Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q | Diquigiovanni C.; Rizzardi N.; Kampmeier A.; Liparulo I.; Bianco F.; De Nicolo B.; Cataldi-Staget...ti E.; Cuna E.; Severi G.; Seri M.; Bertrand M.; Haack T.B.; Marina A.D.; Braun F.; Fato R.; Kuechler A.; Bergamini C.; Bonora E. | 2023-01-01 | OPEN BIOLOGY | - | 1.01 Articolo in rivista | diquigiovanni-et-al-2023-mutant-spart-causes-defects-in-mitochondrial-protein-import-and-bioenergetics-reversed-by.pdf |
| HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations | Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-García, Marta; Magin...i, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernández-Jaén, Alberto; Rory, Olson J; Hallgrímsson, Benedikt; Birnbaum, Ramon Y | 2022-01-01 | GENOME RESEARCH | - | 1.01 Articolo in rivista | Genome Res.-2022-Hirsch-1242-53.pdf; suppl.zip |
| A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder. | Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, ...Bonora E. | 2021-01-01 | JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS | - | 1.01 Articolo in rivista | s10803-020-04551-y.pdf; 231308c7-61b5-43e5-befd-365842d292a9.pdf |
| Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East | Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; C...antalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M. | 2020-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | s00439-020-02187-7.pdf; Palombo_2020_AM.pdf |
| Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late | Minardi R.; Licchetta L.; Baroni M.C.; Pippucci T.; Stipa C.; Mostacci B.; Severi G.; Toni F.; Be...rgonzini L.; Carelli V.; Seri M.; Tinuper P.; Bisulli F. | 2020-01-01 | CLINICAL GENETICS | - | 1.01 Articolo in rivista | Clinical Genetics - 2020 - Minardi - Whole‐exome sequencing in adult patients with developmental and epileptic.pdf; cge13823-sup-0003-tables2.docx; cge13823-sup-0004-tables3.docx; cge13823-sup-0005-supinfo.docx |
| HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype | Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Grazi...ano C. | 2019-01-01 | CYTOGENETIC AND GENOME RESEARCH | - | 1.01 Articolo in rivista | - |
| A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature | Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara..., Milena; Seri, Marco; Rossi, Cesare | 2017-01-01 | OPHTHALMIC GENETICS | - | 1.01 Articolo in rivista | - |
| New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer | Severi, Giulia; Bernardini, Laura; Briuglia, Silvana; Bigoni, Stefania; Buldrini, Barbara; Magini..., Pamela; Dentici, Maria L.; Cordelli, Duccio M.; Arrigo, Teresa; Franzoni, Emilio; Fini, Sergio; Italyankina, Eleonora; Loddo, Italia; Novelli, Antonio; Graziano, Claudio* | 2016-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |