Novelli A - Search Results

1

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H. Jia X, et al. Among authors: novelli a. Sci Adv. 2022 Aug 19;8(33):eabo7112. doi: 10.1126/sciadv.abo7112. Epub 2022 Aug 17. Sci Adv. 2022. PMID: 35977029 Free PMC article.

2

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

Leoni C, Cesarini L, Dittoni S, Battaglia D, Novelli A, Bernardini L, Losurdo A, Vollono C, Testani E, Della Marca G, Zampino G. Leoni C, et al. Among authors: novelli a. Am J Med Genet A. 2010 Mar;152A(3):708-12. doi: 10.1002/ajmg.a.32700. Am J Med Genet A. 2010. PMID: 20186811

3

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: novelli a. 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

4

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: novelli a. 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.

5

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: novelli a. Clin Genet. 2019 Jan;95(1):165-171. doi: 10.1111/cge.13458. Epub 2018 Oct 24. Clin Genet. 2019. PMID: 30288735

6

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: novelli a. Psychiatr Genet. 2019 Jun;29(3):86-90. doi: 10.1097/YPG.0000000000000217. Psychiatr Genet. 2019. PMID: 30724859

7

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: novelli a. Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967. Genes (Basel). 2019. PMID: 31775249 Free PMC article.

8

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.

Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M. Barresi S, et al. Among authors: novelli a. Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31836334

9

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Agolini E, Cherchi C, Bellacchio E, Martinelli D, Cocciadiferro D, Cutrera R, Chiarini Testa MB, Barone C, Bianca S, Novelli A. Agolini E, et al. Among authors: novelli a. Clin Genet. 2020 Apr;97(4):649-654. doi: 10.1111/cge.13691. Epub 2020 Feb 20. Clin Genet. 2020. PMID: 31846058

10

Pediatric gastrointestinal stromal tumor: Report of two novel patients harboring germline variants in SDHB and SDHC genes.

Rinelli M, Agolini E, Milano GM, Russo I, Crocoli A, De Vito R, Di Giannatale A, Di Paolo PL, Novelli A. Rinelli M, et al. Among authors: novelli a. Cancer Genet. 2020 Feb;241:61-65. doi: 10.1016/j.cancergen.2019.12.002. Epub 2019 Dec 16. Cancer Genet. 2020. PMID: 31883676

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