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619 results

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Prenatal CFAP53-related laterality defect: case report and review of the literature.
Mastromoro G, Guadagnolo D, Novelli A, Torres B, Piane M, Magliozzi M, Bernardini L, Ventriglia F, Pizzuti A, Petrucci S. Mastromoro G, et al. Among authors: torres b. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2201653. doi: 10.1080/14767058.2023.2201653. J Matern Fetal Neonatal Med. 2023. PMID: 37041101 Free article. Review.
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.
Mastromoro G, Khaleghi Hashemian N, Guadagnolo D, Giuffrida MG, Torres B, Bernardini L, Ventriglia F, Piacentini G, Pizzuti A. Mastromoro G, et al. Among authors: torres b. Diagnostics (Basel). 2022 May 27;12(6):1328. doi: 10.3390/diagnostics12061328. Diagnostics (Basel). 2022. PMID: 35741137 Free PMC article. Review.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Among authors: torres b. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.
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: torres b. 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.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: torres b. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Sciacchitano S, De Francesco GP, Piane M, Savio C, De Vitis C, Petrucci S, Salvati V, Goldoni M, Fabiani M, Mesoraca A, Micolonghi C, Torres B, Piccinetti A, Pippi R, Mancini R. Sciacchitano S, et al. Among authors: torres b. Diagnostics (Basel). 2022 Nov 30;12(12):2997. doi: 10.3390/diagnostics12122997. Diagnostics (Basel). 2022. PMID: 36553004 Free PMC article.
619 results