Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: monica md. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
Al-Awadi/Raas-Rothschild syndrome: two new cases and review.
Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G. Lonardo F, et al. Among authors: monica md. Am J Med Genet A. 2007 Dec 15;143A(24):3169-74. doi: 10.1002/ajmg.a.31712. Am J Med Genet A. 2007. PMID: 17431918
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, Lombardi C, Forino L, Cantalupo G, Masella L, Scarano F. Lonardo F, et al. Among authors: monica md. Am J Med Genet A. 2011 Apr;155A(4):769-77. doi: 10.1002/ajmg.a.33852. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416588 Review.
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
Marangi G, Ricciardi S, Orteschi D, Tenconi R, Monica MD, Scarano G, Battaglia D, Lettori D, Vasco G, Zollino M. Marangi G, et al. Among authors: monica md. Am J Med Genet A. 2012 Jul;158A(7):1604-11. doi: 10.1002/ajmg.a.35419. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678594
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G. Micale L, et al. Among authors: monica md. Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24633898 Free PMC article.
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, Monica MD, Scarano G, Santoro G, Russo MG, Calzavara-Pinton P, Milanesi O, Colombi M. Ritelli M, et al. Among authors: monica md. BMC Med Genet. 2014 Nov 6;15:122. doi: 10.1186/s12881-014-0122-5. BMC Med Genet. 2014. PMID: 25373504 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: monica md. 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.
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E, Giliberti A, Emiliozzi A, Valentino F, Bergantini L, Fallerini C, Anedda F, Amitrano S, Conticini E, Tita R, d'Alessandro M, Fava F, Marcantonio S, Baldassarri M, Bruttini M, Mazzei MA, Montagnani F, Mandalà M, Bargagli E, Furini S; GEN-COVID Multicenter Study; Renieri A, Mari F. Benetti E, et al. PLoS One. 2020 Nov 18;15(11):e0242534. doi: 10.1371/journal.pone.0242534. eCollection 2020. PLoS One. 2020. PMID: 33206719 Free PMC article.
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study.
Fallerini C, Daga S, Mantovani S, Benetti E, Picchiotti N, Francisci D, Paciosi F, Schiaroli E, Baldassarri M, Fava F, Palmieri M, Ludovisi S, Castelli F, Quiros-Roldan E, Vaghi M, Rusconi S, Siano M, Bandini M, Spiga O, Capitani K, Furini S, Mari F; GEN-COVID Multicenter Study; Renieri A, Mondelli MU, Frullanti E. Fallerini C, et al. Elife. 2021 Mar 2;10:e67569. doi: 10.7554/eLife.67569. Elife. 2021. PMID: 33650967 Free PMC article.
27 results