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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: pizzuti a. BMC Ophthalmol. 2021 Jan 14;21(1):37. doi: 10.1186/s12886-020-01791-5. BMC Ophthalmol. 2021. PMID: 33446141 Free PMC article.
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V. Genovesi ML, et al. Among authors: pizzuti a. Bone. 2021 Mar;144:115803. doi: 10.1016/j.bone.2020.115803. Epub 2021 Jan 12. Bone. 2021. PMID: 33333243
External hydrocephalus as a prenatal feature of noonan syndrome.
Mastromoro G, De Luca A, Marchionni E, Spagnuolo A, Ventriglia F, Manganaro L, Pizzuti A. Mastromoro G, et al. Among authors: pizzuti a. Ann Hum Genet. 2021 Nov;85(6):249-252. doi: 10.1111/ahg.12436. Epub 2021 Jun 2. Ann Hum Genet. 2021. PMID: 34075583
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: pizzuti a. 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: pizzuti a. 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.
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: pizzuti a. 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.
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. Among authors: pizzuti a. Diagnostics (Basel). 2020 Apr 27;10(5):255. doi: 10.3390/diagnostics10050255. Diagnostics (Basel). 2020. PMID: 32349318 Free PMC article.
290 results