Bellacchio E - Search Results

1

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.

Guzzetti C, Bizzarri C, Pisaneschi E, Mucciolo M, Bellacchio E, Ibba A, Casula L, Novelli A, Loche S, Cappa M. Guzzetti C, et al. Among authors: bellacchio e. Horm Res Paediatr. 2018;90(3):203-211. doi: 10.1159/000492496. Epub 2018 Sep 4. Horm Res Paediatr. 2018. PMID: 30179867

2

A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).

Fierabracci A, Bizzarri C, Palma A, Milillo A, Bellacchio E, Cappa M. Fierabracci A, et al. Among authors: bellacchio e. Gene. 2012 Dec 10;511(1):113-7. doi: 10.1016/j.gene.2012.09.029. Epub 2012 Sep 18. Gene. 2012. PMID: 23000069

3

Kabuki syndrome: clinical and molecular diagnosis in the first year of life.

Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Dentici ML, et al. Among authors: bellacchio e. Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Arch Dis Child. 2015. PMID: 25281733 Review.

4

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L. Zanni G, et al. Among authors: bellacchio e. Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14. Hum Mutat. 2015. PMID: 26290468

5

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G. Dentici ML, et al. Among authors: bellacchio e. Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8. Gene. 2017. PMID: 28698159 Free PMC article.

6

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: bellacchio e. Clin Genet. 2018 Mar;93(3):675-681. doi: 10.1111/cge.13137. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 28902392 Review.

7

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Dentici ML, Terracciano A, Bellacchio E, Capolino R, Novelli A, Digilio MC, Dallapiccola B. Dentici ML, et al. Among authors: bellacchio e. Clin Genet. 2018 Jun;93(6):1223-1228. doi: 10.1111/cge.13232. Epub 2018 Apr 11. Clin Genet. 2018. PMID: 29427453

8

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: bellacchio 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.

9

Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.

Rinelli M, Bellacchio E, Berardinelli F, Pascolini G, Grammatico P, Sgura A, Iori AP, Quattrocchi L, Novelli A, Majore S, Agolini E. Rinelli M, et al. Among authors: bellacchio e. Ann Hematol. 2019 Mar;98(3):805-807. doi: 10.1007/s00277-018-3415-5. Epub 2018 Jul 6. Ann Hematol. 2019. PMID: 29980875 No abstract available.

10

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

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