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Page 1
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
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
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.
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: pizzuti a. 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.
Neonatal Marfan Syndrome by Inherited Mutation.
Mastromoro G, Guida V, Cellitti R, Cardilli V, De Luca A, Pizzuti A, Versacci P. Mastromoro G, et al. Among authors: pizzuti a. Indian J Pediatr. 2021 Feb;88(2):176-177. doi: 10.1007/s12098-020-03411-y. Epub 2020 Jun 17. Indian J Pediatr. 2021. PMID: 32557139 No abstract available.
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: pizzuti a. 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.
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
290 results