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845 results

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Page 1
Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype.
Inzaghi E, Deodati A, Loddo S, Mucciolo M, Verdecchia F, Sallicandro E, Catino G, Cappa M, Novelli A, Cianfarani S. Inzaghi E, et al. Among authors: novelli a. J Endocrinol Invest. 2022 Jan;45(1):79-87. doi: 10.1007/s40618-021-01617-1. Epub 2021 Jul 13. J Endocrinol Invest. 2022. PMID: 34255311
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.
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: novelli a. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC. Battaglia A, et al. Among authors: novelli a. Eur J Paediatr Neurol. 2013 Nov;17(6):589-99. doi: 10.1016/j.ejpn.2013.04.010. Epub 2013 May 24. Eur J Paediatr Neurol. 2013. PMID: 23711909
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Among authors: novelli a. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.
Primerano A, Colao E, Villella C, Nocera MD, Ciambrone A, Luciano E, D'Antona L, Vismara MFM, Loddo S, Novelli A, Perrotti N, Malatesta P. Primerano A, et al. Among authors: novelli a. Mol Cytogenet. 2015 Sep 2;8:70. doi: 10.1186/s13039-015-0172-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26336513 Free PMC article.
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
845 results