Genovesi ML - Search Results

1

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. Bone. 2021 Mar;144:115803. doi: 10.1016/j.bone.2020.115803. Epub 2021 Jan 12. Bone. 2021. PMID: 33333243

2

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

Barbato E, Traversa A, Guarnieri R, Giovannetti A, Genovesi ML, Magliozzi MR, Paolacci S, Ciolfi A, Pizzi S, Di Giorgio R, Tartaglia M, Pizzuti A, Caputo V. Barbato E, et al. Among authors: genovesi ml. Arch Oral Biol. 2018 Jul;91:96-102. doi: 10.1016/j.archoralbio.2018.04.011. Epub 2018 Apr 21. Arch Oral Biol. 2018. PMID: 29705498

3

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: genovesi ml. 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.

4

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: genovesi ml. 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.

5

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.

Genovesi ML, Torres B, Goldoni M, Salvo E, Cesario C, Majolo M, Mazza T, Piscopo C, Bernardini L. Genovesi ML, et al. Front Genet. 2022 Jul 15;13:924362. doi: 10.3389/fgene.2022.924362. eCollection 2022. Front Genet. 2022. PMID: 35910214 Free PMC article.

6

3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.

Giuffrida MG, Goldoni M, Genovesi ML, Carpentieri G, Torres B, Deac AD, Cecchetti S, Martinelli A, Vaisfeld A, Flex E, Bernardini L. Giuffrida MG, et al. Among authors: genovesi ml. Diagnostics (Basel). 2022 Sep 28;12(10):2354. doi: 10.3390/diagnostics12102354. Diagnostics (Basel). 2022. PMID: 36292043 Free PMC article.

7

In the Global Epicenter: Social Work Leadership in a New York City Hospital.

Xenakis N, Brosnan MM, Burgos L, Childs J, Deschamps J, Dobrof J, Farquhar DW, Genovesi ML, Goldgraben KR, Gordon E, Hamilton C, Koppel SR, Lipp MN, Potter R, Rauch A, Rodriguez V, Schubert E, Sollars ED, Zilberfein F. Xenakis N, et al. Among authors: genovesi ml. Soc Work Health Care. 2021;60(1):62-77. doi: 10.1080/00981389.2021.1885563. Epub 2021 Feb 15. Soc Work Health Care. 2021. PMID: 33588694

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