Novelli A - 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. Among authors: novelli a. 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

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Zampino G, Ertel A, Fortina P, Surrey S, Dallapiccola B. Bernardini L, et al. Among authors: novelli a. Eur J Hum Genet. 2010 Feb;18(2):178-85. doi: 10.1038/ejhg.2009.154. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809473 Free PMC article.

3

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. Among authors: novelli a. 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

4

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. Among authors: novelli a. Gene. 2012 Sep 1;505(2):384-7. doi: 10.1016/j.gene.2012.05.031. Epub 2012 May 24. Gene. 2012. PMID: 22634100

5

Another patient with 12q13 microduplication.

Bertoli M, Alesi V, Gullotta F, Zampatti S, Abate MR, Palmieri C, Novelli A, Frontali M, Nardone AM. Bertoli M, et al. Among authors: novelli a. Am J Med Genet A. 2013 Aug;161A(8):2004-8. doi: 10.1002/ajmg.a.35991. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824684

6

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

Londin ER, Adijanto J, Philp N, Novelli A, Vitale E, Perria C, Serra G, Alesi V, Surrey S, Fortina P. Londin ER, et al. Among authors: novelli a. Am J Med Genet A. 2014 Sep;164A(9):2294-9. doi: 10.1002/ajmg.a.36629. Epub 2014 Jun 4. Am J Med Genet A. 2014. PMID: 24898194 Free PMC article.

7

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.

Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F. Grati FR, et al. Among authors: novelli a. Prenat Diagn. 2015 Aug;35(8):801-9. doi: 10.1002/pd.4613. Epub 2015 Jun 24. Prenat Diagn. 2015. PMID: 25962607

8

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: novelli a. 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

9

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: novelli a. 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.

10

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. Among authors: novelli a. 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

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