Alesi V - Search Results

1

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

Alesi V, Sessini F, Genovese S, Calvieri G, Sallicandro E, Ciocca L, Mingoia M, Novelli A, Moi P. Alesi V, et al. Int J Mol Sci. 2021 Feb 20;22(4):2106. doi: 10.3390/ijms22042106. Int J Mol Sci. 2021. PMID: 33672664 Free PMC article.

2

A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.

Alesi V, Barrano G, Morara S, Darelli D, Petrilli K, Capalbo A, Pacella M, Haass C, Finocchi M, Novelli A, Bertoli M. Alesi V, et al. Am J Med Genet A. 2011 Oct;155A(10):2543-51. doi: 10.1002/ajmg.a.34201. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910230

3

335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.

Alesi V, Bertoli M, Barrano G, Torres B, Pusceddu S, Pastorino M, Perria C, Nardone AM, Novelli A, Serra G. Alesi V, et al. Gene. 2012 Sep 1;505(2):384-7. doi: 10.1016/j.gene.2012.05.031. Epub 2012 May 24. Gene. 2012. PMID: 22634100

4

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

Radio FC, Digilio MC, Capolino R, Dentici ML, Unolt M, Alesi V, Novelli A, Marino B, Dallapiccola B. Radio FC, et al. Among authors: alesi v. Am J Med Genet A. 2016 Mar;170(3):661-4. doi: 10.1002/ajmg.a.37503. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686844

5

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Travaglini L, Aiello C, Alesi V, Loddo S, Novelli A, Tozzi G, Bertini E, Leuzzi V, Brancati F. Travaglini L, et al. Among authors: alesi v. Brain Dev. 2017 Feb;39(2):182-183. doi: 10.1016/j.braindev.2016.08.010. Epub 2016 Sep 14. Brain Dev. 2017. PMID: 27639779 No abstract available.

6

Reassessment of the 12q15 deletion syndrome critical region.

Alesi V, Loddo S, Grispo M, Riccio S, Montella AC, Dallapiccola B, Ulgheri L, Novelli A. Alesi V, et al. Eur J Med Genet. 2017 Apr;60(4):220-223. doi: 10.1016/j.ejmg.2017.01.009. Epub 2017 Jan 31. Eur J Med Genet. 2017. PMID: 28159701

7

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.

Alesi V, Orlando V, Genovese S, Loddo S, Pisaneschi E, Pompili D, Surace C, Restaldi F, Digilio MC, Dallapiccola B, Dentici ML, Novelli A. Alesi V, et al. Cytogenet Genome Res. 2017;151(4):179-185. doi: 10.1159/000475490. Epub 2017 May 6. Cytogenet Genome Res. 2017. PMID: 28478456

8

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

Alesi V, Dentici ML, Restaldi F, Orlando V, Liambo MT, Calacci C, Capolino R, Digilio MC, El Hachem M, Novelli A, Diociaiuti A, Dallapiccola B. Alesi V, et al. Am J Med Genet A. 2017 Jul;173(7):1943-1946. doi: 10.1002/ajmg.a.38269. Epub 2017 May 10. Am J Med Genet A. 2017. PMID: 28489314

9

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Agolini E, Dentici ML, Bellacchio E, Alesi V, Radio FC, Torella A, Musacchia F, Tartaglia M, Dallapiccola B, Nigro V, Digilio MC, Novelli A. Agolini E, et al. Among authors: alesi v. Clin Genet. 2018 Mar;93(3):675-681. doi: 10.1111/cge.13137. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 28902392 Review.

10

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.

Napoli E, Russo S, Casula L, Alesi V, Amendola FA, Angioni A, Novelli A, Valeri G, Menghini D, Vicari S. Napoli E, et al. Among authors: alesi v. J Autism Dev Disord. 2018 Feb;48(2):442-449. doi: 10.1007/s10803-017-3329-4. J Autism Dev Disord. 2018. PMID: 29027068

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