Agolini E - Search Results

1

Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation.

Alteri C, Scutari R, Costabile V, Colagrossi L, Yu La Rosa K, Agolini E, Lanari V, Chiurchiù S, Romani L, Markowich AH, Bernaschi P, Russo C, Novelli A, Bernardi S, Campana A, Villani A, Perno CF. Alteri C, et al. Among authors: agolini e. Sci Rep. 2022 Jun 17;12(1):10194. doi: 10.1038/s41598-022-14426-0. Sci Rep. 2022. PMID: 35715488 Free PMC article.

2

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

Pascolini G, Agolini E, Majore S, Novelli A, Grammatico P, Digilio MC. Pascolini G, et al. Among authors: agolini e. Eur J Paediatr Neurol. 2018 May;22(3):552-557. doi: 10.1016/j.ejpn.2018.01.024. Epub 2018 Feb 3. Eur J Paediatr Neurol. 2018. PMID: 29475819

3

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Radio FC, Di Meglio L, Agolini E, Bellacchio E, Rinelli M, Toscano P, Boldrini R, Novelli A, Di Meglio A, Dallapiccola B. Radio FC, et al. Among authors: agolini e. Mol Genet Genomic Med. 2018 May;6(3):446-451. doi: 10.1002/mgg3.376. Epub 2018 Mar 3. Mol Genet Genomic Med. 2018. PMID: 29500860 Free PMC article.

4

Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.

Gentile M, Agolini E, Cocciadiferro D, Ficarella R, Ponzi E, Bellacchio E, Antonucci MF, Novelli A. Gentile M, et al. Among authors: agolini e. Clin Genet. 2019 Jan;95(1):165-171. doi: 10.1111/cge.13458. Epub 2018 Oct 24. Clin Genet. 2019. PMID: 30288735

5

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A, Guglielmi G, Bertini E. Castori M, et al. Among authors: agolini e. Am J Med Genet A. 2019 Feb;179(2):317-321. doi: 10.1002/ajmg.a.61006. Epub 2018 Dec 18. Am J Med Genet A. 2019. PMID: 30561154

6

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F. de Billy E, et al. Among authors: agolini e. Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569626

7

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Pascolini G, Majore S, Valiante M, Bottillo I, Laino L, Agolini E, Novelli A, Grammatico B, Calvani M, Grammatico P. Pascolini G, et al. Among authors: agolini e. Psychiatr Genet. 2019 Jun;29(3):86-90. doi: 10.1097/YPG.0000000000000217. Psychiatr Genet. 2019. PMID: 30724859

8

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Paglietti MG, Cherchi C, Porcaro F, Agolini E, Schiavino A, Petreschi F, Novelli A, Cutrera R. Paglietti MG, et al. Among authors: agolini e. Ital J Pediatr. 2019 Apr 18;45(1):49. doi: 10.1186/s13052-019-0636-8. Ital J Pediatr. 2019. PMID: 30999961 Free PMC article.

9

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M. Micale L, et al. Among authors: agolini e. Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967. Genes (Basel). 2019. PMID: 31775249 Free PMC article.

10

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.

Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P. Giannantonio S, et al. Among authors: agolini e. Int J Pediatr Otorhinolaryngol. 2020 Feb;129:109790. doi: 10.1016/j.ijporl.2019.109790. Epub 2019 Nov 22. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31786483

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