Della Monica M - Search Results

1

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.

Bargiacchi S, Della Monica M, Biagiotti R, Andreucci E, Ciabattoni S, Poggi P, Di Maurizio M, Defilippi C, Cariati E, Giglio S. Bargiacchi S, et al. Among authors: della monica m. Eur J Med Genet. 2017 Jul;60(7):365-368. doi: 10.1016/j.ejmg.2017.04.007. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28414187

2

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R. Cellini E, et al. Among authors: della monica m. Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683929 Free PMC article. Clinical Trial.

3

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: della monica m. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002

4

Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.

Nistri S, De Cario R, Sticchi E, Spaziani G, Della Monica M, Giglio S, Favilli S, Giusti B, Stefano P, Pepe G. Nistri S, et al. Among authors: della monica m. Genes (Basel). 2021 Sep 22;12(10):1462. doi: 10.3390/genes12101462. Genes (Basel). 2021. PMID: 34680857 Free PMC article.

5

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G. Piane M, et al. Among authors: della monica m. Am J Med Genet A. 2009 Nov;149A(11):2452-6. doi: 10.1002/ajmg.a.33035. Am J Med Genet A. 2009. PMID: 19839044

6

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: della monica m. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403

7

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.

Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G. Nazzaro A, et al. Among authors: della monica m. Prenat Diagn. 2004 Nov;24(11):918-22. doi: 10.1002/pd.844. Prenat Diagn. 2004. PMID: 15565658 Review.

8

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.

Della Monica M, Nazzaro A, Lonardo F, Ferrara G, Di Blasi A, Scarano G. Della Monica M, et al. Prenat Diagn. 2005 May;25(5):394-7. doi: 10.1002/pd.1146. Prenat Diagn. 2005. PMID: 15909284

9

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G. Della Monica M, et al. Am J Med Genet A. 2007 Nov 15;143A(22):2733-7. doi: 10.1002/ajmg.a.32006. Am J Med Genet A. 2007. PMID: 17937430

10

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C. Negri G, et al. Among authors: della monica m. Clin Genet. 2015 Feb;87(2):148-54. doi: 10.1111/cge.12348. Epub 2014 Feb 17. Clin Genet. 2015. PMID: 24476420

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