CARRIERO, MIRIAM LUCIA
CARRIERO, MIRIAM LUCIA
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease
2024-05-08 Graziani, L; Minotti, C; Carriero, Ml; Bengala, M; Lai, S; Terracciano, A; Novelli, A; Novelli, G
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report
2023-01-01 Graziani, L; Zampatti, S; Carriero, Ml; Minotti, C; Peconi, C; Bengala, M; Giardina, E; Novelli, G
Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome
2024-03-22 Graziani, L; Carriero, Ml; Pozzi, F; Minotti, C; Andreadi, A; Bellia, A; Ruta, R; Bengala, M; Novelli, A; Lauro, D; Novelli, G
Implementing the risk stratification and clinical management of breast cancer families using polygenic risk score evaluation: A pilot study
2024-01-01 Rizzacasa, B; Nicolì, V; Tancredi, C; Conte, C; Salehi, L; Carriero, M; Longo, G; Cirigliano, V; Lopez, L; Palao, B; Portarena, I; Buonomo, O; Novelli, G; Biancolella, M
Integrated AI medical emergency diagnostics advising system
2024-01-01 Aityan, Sk; Mosaddegh, A; Herrero, R; Inchingolo, F; Nguyen, Kcd; Balzanelli, M; Lazzaro, R; Iacovazzo, N; Cefalo, A; Carriero, L; Mersini, M; Legramante, Jm; Minieri, M; Santacroce, L; Gargiulo Isacco, C
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion
2025-01-01 Graziani, L; Carriero, Ml; Melchionda, S; Augello, B; Palumbo, O; Bengala, M; Castori, M; Novelli, G
Prenatal diagnosis of chromosome 21q homologous rearrangement: integrated cytogenetic and molecular characterization
2025-01-01 Carriero, Ml; Graziani, L; Di Tommaso, S; Di Rosa, C; Mannucci, L; Brugiati, V; Novelli, A; Baghernajad Salehi, L; Nardone, Am; Novelli, G
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations
2024-04-28 Graziani, L; Nuovo, S; Pisaneschi, E; Carriero, Ml; Baghernajad Salehi, L; Nardone, Am; Manganaro, L; Novelli, A; D'Apice, Mr; Mappa, I; Novelli, G
SUFU Loss-of-Function Heterozygous Variants Cause a Distinct Neurodevelopmental Delay With Simultaneous Effects on Brain Size
2026-01-01 Graziani, L; Minotti, C; Carriero, Ml; Travaglini, L; Nizon, M; Van Esch, H; Vogt, J; Drinkall, N; Jarvis, J; Agolini, E; Bengala, M; Mussa, A; Novelli, A; Novelli, G
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly
2025-01-01 Graziani, L; Carriero, Ml; Ferradini, V; Conte, C; Bengala, M; Sangiuolo, Fc; Novelli, G
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
|---|---|---|---|---|
| 8-mag-2024 | A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease | Graziani, L; Minotti, C; Carriero, Ml; Bengala, M; Lai, S; Terracciano, A; Novelli, A; Novelli, G | Articolo su rivista | |
| 1-gen-2023 | Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report | Graziani, L; Zampatti, S; Carriero, Ml; Minotti, C; Peconi, C; Bengala, M; Giardina, E; Novelli, G | Articolo su rivista | |
| 22-mar-2024 | Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome | Graziani, L; Carriero, Ml; Pozzi, F; Minotti, C; Andreadi, A; Bellia, A; Ruta, R; Bengala, M; Novelli, A; Lauro, D; Novelli, G | Articolo su rivista | |
| 1-gen-2024 | Implementing the risk stratification and clinical management of breast cancer families using polygenic risk score evaluation: A pilot study | Rizzacasa, B; Nicolì, V; Tancredi, C; Conte, C; Salehi, L; Carriero, M; Longo, G; Cirigliano, V; Lopez, L; Palao, B; Portarena, I; Buonomo, O; Novelli, G; Biancolella, M | Articolo su rivista | |
| 1-gen-2024 | Integrated AI medical emergency diagnostics advising system | Aityan, Sk; Mosaddegh, A; Herrero, R; Inchingolo, F; Nguyen, Kcd; Balzanelli, M; Lazzaro, R; Iacovazzo, N; Cefalo, A; Carriero, L; Mersini, M; Legramante, Jm; Minieri, M; Santacroce, L; Gargiulo Isacco, C | Articolo su rivista | |
| 1-gen-2025 | Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion | Graziani, L; Carriero, Ml; Melchionda, S; Augello, B; Palumbo, O; Bengala, M; Castori, M; Novelli, G | Articolo su rivista | |
| 1-gen-2025 | Prenatal diagnosis of chromosome 21q homologous rearrangement: integrated cytogenetic and molecular characterization | Carriero, Ml; Graziani, L; Di Tommaso, S; Di Rosa, C; Mannucci, L; Brugiati, V; Novelli, A; Baghernajad Salehi, L; Nardone, Am; Novelli, G | Articolo su rivista | |
| 28-apr-2024 | Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations | Graziani, L; Nuovo, S; Pisaneschi, E; Carriero, Ml; Baghernajad Salehi, L; Nardone, Am; Manganaro, L; Novelli, A; D'Apice, Mr; Mappa, I; Novelli, G | Articolo su rivista | |
| 1-gen-2026 | SUFU Loss-of-Function Heterozygous Variants Cause a Distinct Neurodevelopmental Delay With Simultaneous Effects on Brain Size | Graziani, L; Minotti, C; Carriero, Ml; Travaglini, L; Nizon, M; Van Esch, H; Vogt, J; Drinkall, N; Jarvis, J; Agolini, E; Bengala, M; Mussa, A; Novelli, A; Novelli, G | Articolo su rivista | |
| 1-gen-2025 | WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly | Graziani, L; Carriero, Ml; Ferradini, V; Conte, C; Bengala, M; Sangiuolo, Fc; Novelli, G | Articolo su rivista |