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Page 1
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Sy MR, et al. Among authors: mandrile g. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. Am J Med Genet A. 2022. PMID: 36135330 Free PMC article.
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL, Garrelfs SF, Deesker LJ, Acquaviva C, D'Ambrosio V, Bacchetta J, Beck BB, Cochat P, Collard L, Hogan J, Ferraro PM, Franssen CFM, Harambat J, Hulton SA, Lipkin GW, Mandrile G, Martin-Higueras C, Mohebbi N, Moochhala SH, Neuhaus TJ, Prikhodina L, Salido E, Topaloglu R, Oosterveld MJS, Groothoff JW, Peters-Sengers H. Metry EL, et al. Among authors: mandrile g. Kidney Int Rep. 2023 Aug 4;8(10):2029-2042. doi: 10.1016/j.ekir.2023.07.025. eCollection 2023 Oct. Kidney Int Rep. 2023. PMID: 37849991 Free PMC article.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Giovenino C, Trajkova S, Pavinato L, Cardaropoli S, Pullano V, Ferrero E, Sukarova-Angelovska E, Carestiato S, Salmin P, Rinninella A, Battaglia A, Bertoli L, Fadda A, Palermo F, Carli D, Mussa A, Dimartino P, Bruselles A, Froukh T, Mandrile G, Pasini B, De Rubeis S, Buxbaum JD, Pippucci T, Tartaglia M, Rossato M, Delledonne M, Ferrero GB, Brusco A. Giovenino C, et al. Among authors: mandrile g. Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6. Eur J Hum Genet. 2023. PMID: 36879111
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.
Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A. Di Gregorio E, et al. Among authors: mandrile g. Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014. Mol Cytogenet. 2014. PMID: 25435912 Free PMC article.
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P. Tenorio J, et al. Among authors: mandrile g. Am J Med Genet A. 2017 Mar;173(3):601-610. doi: 10.1002/ajmg.a.37991. Epub 2017 Jan 27. Am J Med Genet A. 2017. PMID: 28127875
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: mandrile g. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Giacomini T, Cordani R, Bagnasco I, Vercellino F, Giordano L, Milito G, Ferrero GB, Mandrile G, Scala M, Meli M, Falsaperla R, Luria G, De Grandis E, Canale E, Amadori E, Striano P, Nobili L, Siri L. Giacomini T, et al. Among authors: mandrile g. Neuropediatrics. 2023 Dec;54(6):433-438. doi: 10.1055/s-0043-1775977. Epub 2023 Oct 6. Neuropediatrics. 2023. PMID: 37802085
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Caraffi SG, van der Laan L, Rooney K, Trajkova S, Zuntini R, Relator R, Haghshenas S, Levy MA, Baldo C, Mandrile G, Lauzon C, Cordelli DM, Ivanovski I, Fetta A, Sukarova E, Brusco A, Pavinato L, Pullano V, Zollino M, McConkey H, Tartaglia M, Ferrero GB, Sadikovic B, Garavelli L. Caraffi SG, et al. Among authors: mandrile g. Eur J Hum Genet. 2024 Feb 13. doi: 10.1038/s41431-024-01548-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38351292
49 results