Malacarne M - Search Results

1

NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.

Conteduca G, Cangelosi D, Coco S, Malacarne M, Baldo C, Arado A, Pinto R, Testa B, Coviello DA. Conteduca G, et al. Among authors: malacarne m. Life (Basel). 2022 Jul 2;12(7):988. doi: 10.3390/life12070988. Life (Basel). 2022. PMID: 35888078 Free PMC article.

2

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F. Striano P, et al. Among authors: malacarne m. Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Free article. Review.

3

19q13 microdeletion syndrome: Further refining the critical region.

Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F. Forzano F, et al. Among authors: malacarne m. Eur J Med Genet. 2012 Jun;55(6-7):429-32. doi: 10.1016/j.ejmg.2012.03.002. Epub 2012 Apr 10. Eur J Med Genet. 2012. PMID: 22510526

4

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F. Mandrile G, et al. Among authors: malacarne m. Eur J Med Genet. 2013 Apr;56(4):216-21. doi: 10.1016/j.ejmg.2013.01.005. Epub 2013 Jan 26. Eur J Med Genet. 2013. PMID: 23357683 Free article.

5

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.

Lantieri F, Malacarne M, Gimelli S, Santamaria G, Coviello D, Ceccherini I. Lantieri F, et al. Among authors: malacarne m. Int J Mol Sci. 2017 Mar 10;18(3):609. doi: 10.3390/ijms18030609. Int J Mol Sci. 2017. PMID: 28287439 Free PMC article.

6

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Lantieri F, Gimelli S, Viaggi C, Stathaki E, Malacarne M, Santamaria G, Grossi A, Mosconi M, Sloan-Béna F, Prato AP, Coviello D, Ceccherini I. Lantieri F, et al. Among authors: malacarne m. Orphanet J Rare Dis. 2019 Nov 25;14(1):270. doi: 10.1186/s13023-019-1205-3. Orphanet J Rare Dis. 2019. PMID: 31767031 Free PMC article.

7

Intervertebral disc and endplate cell characterisation highlights annulus fibrosus cells as the most promising for tissue-specific disc degeneration therapy.

De Luca P, Castagnetta M, de Girolamo L, Coco S, Malacarne M, Ragni E, Viganò M, Lugano G, Brayda-Bruno M, Coviello D, Colombini A. De Luca P, et al. Among authors: malacarne m. Eur Cell Mater. 2020 Mar 3;39:156-170. doi: 10.22203/eCM.v039a10. Eur Cell Mater. 2020. PMID: 32125689 Free article.

8

1p31.1 microdeletion including only NEGR1 gene in two patients.

Tassano E, Uccella S, Giacomini T, Fiorio P, Tavella E, Malacarne M, Gimelli G, Coviello D, Ronchetto P. Tassano E, et al. Among authors: malacarne m. Eur J Med Genet. 2020 Jun;63(6):103919. doi: 10.1016/j.ejmg.2020.103919. Epub 2020 Mar 21. Eur J Med Genet. 2020. PMID: 32209393

9

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.

Tassano E, Uccella S, Severino M, Giacomini T, Nardi F, Gimelli G, Tavella E, Ronchetto P, Malacarne M, Coviello D. Tassano E, et al. Among authors: malacarne m. J Genet. 2021;100:9. J Genet. 2021. PMID: 33707360 Free article. Review.

10

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.

Catusi I, Garzo M, Capra AP, Briuglia S, Baldo C, Canevini MP, Cantone R, Elia F, Forzano F, Galesi O, Grosso E, Malacarne M, Peron A, Romano C, Saccani M, Larizza L, Recalcati MP. Catusi I, et al. Among authors: malacarne m. Genes (Basel). 2021 Apr 27;12(5):652. doi: 10.3390/genes12050652. Genes (Basel). 2021. PMID: 33925474 Free PMC article.

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