Malacarne M - Search Results

1

High-Throughput Gene and Protein Analysis Revealed the Response of Disc Cells to Vitamin D, Depending on the VDR FokI Variants.

Colombini A, De Luca P, Cangelosi D, Perucca Orfei C, Ragni E, Viganò M, Malacarne M, Castagnetta M, Brayda-Bruno M, Coviello D, de Girolamo L. Colombini A, et al. Among authors: malacarne m. Int J Mol Sci. 2021 Sep 4;22(17):9603. doi: 10.3390/ijms22179603. Int J Mol Sci. 2021. PMID: 34502510 Free PMC article.

2

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.

3

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.

4

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.

5

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.

Catusi I, Recalcati MP, Bestetti I, Garzo M, Valtorta C, Alfonsi M, Alghisi A, Cappellani S, Casalone R, Caselli R, Ceccarini C, Ceglia C, Ciaschini AM, Coviello D, Crosti F, D'Aprile A, Fabretto A, Genesio R, Giagnacovo M, Granata P, Longo I, Malacarne M, Marseglia G, Montaldi A, Nardone AM, Palka C, Pecile V, Pessina C, Postorivo D, Redaelli S, Renieri A, Rigon C, Tiberi F, Tonelli M, Villa N, Zilio A, Zuccarello D, Novelli A, Larizza L, Giardino D. Catusi I, et al. Among authors: malacarne m. Mol Genet Genomic Med. 2020 Jan;8(1):e1056. doi: 10.1002/mgg3.1056. Epub 2019 Dec 18. Mol Genet Genomic Med. 2020. PMID: 31851782 Free PMC article.

6

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.

7

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

8

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.

9

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.

Poeta L, Malacarne M, Padula A, Drongitis D, Verrillo L, Lioi MB, Chiariello AM, Bianco S, Nicodemi M, Piccione M, Salzano E, Coviello D, Miano MG. Poeta L, et al. Among authors: malacarne m. Int J Mol Sci. 2022 Mar 13;23(6):3084. doi: 10.3390/ijms23063084. Int J Mol Sci. 2022. PMID: 35328505 Free PMC article. Review.

10

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.

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