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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: guadagnolo d. 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: guadagnolo d. 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.
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: guadagnolo d. 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.
21 results