Natacci F - Search Results

1

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.

Di Fede E, Lettieri A, Taci E, Castiglioni S, Rebellato S, Parodi C, Colombo EA, Grazioli P, Natacci F, Marchisio P, Pezzani L, Fazio G, Milani D, Massa V, Gervasini C. Di Fede E, et al. Among authors: natacci f. Hum Genet. 2024 Jun;143(6):747-759. doi: 10.1007/s00439-024-02675-0. Epub 2024 May 16. Hum Genet. 2024. PMID: 38753158 Free PMC article.

2

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

Finelli P, Natacci F, Bonati MT, Gottardi G, Engelen JJ, de Die-Smulders CE, Sala M, Giardino D, Larizza L. Finelli P, et al. Among authors: natacci f. J Med Genet. 2004 Jul;41(7):e90. doi: 10.1136/jmg.2003.016311. J Med Genet. 2004. PMID: 15235033 Free PMC article. No abstract available.

3

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.

Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L. Russo S, et al. Among authors: natacci f. Clin Dysmorphol. 2000 Jul;9(3):157-62. doi: 10.1097/00019605-200009030-00001. Clin Dysmorphol. 2000. PMID: 10955473

4

Nasopharyngeal teratoma and diaphragmatic hernia: a non random association?

Natacci F, Moschetta M, Bedeschi MF, Spaccini L, Capelli A, Segni MD, Rizzuti T, Mosca F, Lalatta F. Natacci F, et al. Clin Dysmorphol. 2004 Oct;13(4):255-256. Clin Dysmorphol. 2004. PMID: 15365464

5

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.

Baranello G, Cesaretti C, Zambonin F, Casalone R, Granata P, Esposito S, Alfei E, Natacci F. Baranello G, et al. Among authors: natacci f. J Child Neurol. 2013 Nov;28(11):1463-1466. doi: 10.1177/0883073813483571. Epub 2013 Apr 22. J Child Neurol. 2013. PMID: 23611886

6

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P. Venturin M, et al. Among authors: natacci f. J Med Genet. 2004 Jan;41(1):35-41. doi: 10.1136/jmg.2003.014761. J Med Genet. 2004. PMID: 14729829 Free PMC article. No abstract available.

7

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

Colapietro P, Gervasini C, Natacci F, Rossi L, Riva P, Larizza L. Colapietro P, et al. Among authors: natacci f. Hum Genet. 2003 Nov;113(6):551-4. doi: 10.1007/s00439-003-1009-2. Epub 2003 Sep 6. Hum Genet. 2003. PMID: 13680360

8

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

Larizza L, Gervasini C, Natacci F, Riva P. Larizza L, et al. Among authors: natacci f. Curr Mol Med. 2009 Jun;9(5):634-53. doi: 10.2174/156652409788488801. Curr Mol Med. 2009. PMID: 19601812 Review.

9

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.

Bedeschi MF, Bianchi V, Colli AM, Natacci F, Cereda A, Milani D, Maitz S, Lalatta F, Selicorni A. Bedeschi MF, et al. Among authors: natacci f. Am J Med Genet A. 2011 Feb;155A(2):353-9. doi: 10.1002/ajmg.a.33819. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271653

10

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F. Tucci A, et al. Among authors: natacci f. J Hum Genet. 2017 Nov;62(11):1001-1004. doi: 10.1038/jhg.2017.78. Epub 2017 Jul 27. J Hum Genet. 2017. PMID: 28747691

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