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X-linked dominant RPGR gene mutation in a familial Coats angiomatosis.
Nebbioso M, Franzone F, Lambiase A, La Cava M, Mallone F, Pizzuti A, Marchionni E. Nebbioso M, et al. Among authors: marchionni e. BMC Ophthalmol. 2021 Jan 14;21(1):37. doi: 10.1186/s12886-020-01791-5. BMC Ophthalmol. 2021. PMID: 33446141 Free PMC article.
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
Giancotti A, D'Ambrosio V, Marchionni E, Squarcella A, Aliberti C, La Torre R, Manganaro L, Pizzuti A; PECRAM Study Group*. Giancotti A, et al. Among authors: marchionni e. J Matern Fetal Neonatal Med. 2017 Sep;30(18):2225-2231. doi: 10.1080/14767058.2016.1243099. Epub 2016 Oct 20. J Matern Fetal Neonatal Med. 2017. PMID: 27762162 Review.
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
Mastromoro G, Gambardella S, Marchionni E, Campopiano R, Traversa A, Di Bonaventura C, Pizzuti A. Mastromoro G, et al. Among authors: marchionni e. Neurodegener Dis. 2019;19(2):96-100. doi: 10.1159/000502906. Epub 2019 Oct 2. Neurodegener Dis. 2019. PMID: 31578030
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi ML, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A. Traversa A, et al. Among authors: marchionni e. Mol Genet Genomic Med. 2020 Jan;8(1):e1054. doi: 10.1002/mgg3.1054. Epub 2019 Nov 22. Mol Genet Genomic Med. 2020. PMID: 31756055 Free PMC article.
TLR4 T399I Polymorphism and Endometriosis in a Cohort of Italian Women.
Marchionni E, Porpora MG, Megiorni F, Piacenti I, Giovannetti A, Marchese C, Benedetti Panici P, Pizzuti A. Marchionni E, et al. Diagnostics (Basel). 2020 Apr 27;10(5):255. doi: 10.3390/diagnostics10050255. Diagnostics (Basel). 2020. PMID: 32349318 Free PMC article.
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Traversa A, Marchionni E, Giovannetti A, Genovesi ML, Panzironi N, Margiotti K, Napoli G, Piceci Sparascio F, De Luca A, Petrizzelli F, Carella M, Cardona F, Bernardo S, Manganaro L, Mazza T, Pizzuti A, Caputo V. Traversa A, et al. Among authors: marchionni e. Mol Genet Genomic Med. 2020 Aug;8(8):e1336. doi: 10.1002/mgg3.1336. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519823 Free PMC article.
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment.
Mastromoro G, Guadagnolo D, Marchionni E, Di Palma F, Gigante L, Versacci P, Ventriglia F, Baldi M, Pizzuti A. Mastromoro G, et al. Among authors: marchionni e. Eur J Obstet Gynecol Reprod Biol. 2021 Jan;256:518-520. doi: 10.1016/j.ejogrb.2020.11.003. Epub 2020 Nov 10. Eur J Obstet Gynecol Reprod Biol. 2021. PMID: 33234345 No abstract available.
46 results