Natacci F - Search Results

1

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

2

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

Tritto V, Bettinaglio P, Mangano E, Cesaretti C, Marasca F, Castronovo C, Bordoni R, Battaglia C, Saletti V, Ranzani V, Bodega B, Eoli M, Natacci F, Riva P. Tritto V, et al. Among authors: natacci f. Hum Genet. 2024 Jun;143(6):775-795. doi: 10.1007/s00439-024-02683-0. Epub 2024 Jun 14. Hum Genet. 2024. PMID: 38874808 Free PMC article.

3

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Paterra R, Bettinaglio P, Borghi A, Mangano E, Tritto V, Cesaretti C, Schettino C, Bordoni R, Santoro C, Avignone S, Moscatelli M, Melone MAB, Saletti V, Piluso G, Natacci F, Riva P, Eoli M. Paterra R, et al. Among authors: natacci f. Cancers (Basel). 2022 Dec 22;15(1):59. doi: 10.3390/cancers15010059. Cancers (Basel). 2022. PMID: 36612057 Free PMC article.

4

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.

5

Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.

Russo S, Selicorni A, Bedeschi MF, Natacci F, Viziello P, Fortuna R, Pagani G, Dalprà L, Larizza L. Russo S, et al. Among authors: natacci f. Am J Med Genet. 1998 Jan 23;75(3):304-8. Am J Med Genet. 1998. PMID: 9475603

6

New case of the Richieri-Costa/Guion-Almeida syndrome.

Natacci F, Pierri M, Rossetti M, Sala M, Larizza L. Natacci F, et al. Am J Med Genet. 1999 Apr 23;83(5):419-21. doi: 10.1002/(sici)1096-8628(19990423)83:5<419::aid-ajmg15>3.0.co;2-l. Am J Med Genet. 1999. PMID: 10232755

7

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L. Riva P, et al. Among authors: natacci f. Am J Hum Genet. 2000 Jan;66(1):100-9. doi: 10.1086/302709. Am J Hum Genet. 2000. PMID: 10631140 Free PMC article.

8

Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population.

Natacci F, Colapietro P, Riva P, Corrado L, Rossi LN, Maninetti MM, Casciati MC, Zambrino Ca, Lanzi G, Larizza L. Natacci F, et al. Mol Cell Probes. 1999 Dec;13(6):415-20. doi: 10.1006/mcpr.1999.0268. Mol Cell Probes. 1999. PMID: 10657145

9

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

Natacci F, Corrado L, Pierri M, Rossetti M, Zuccarini C, Riva P, Miozzo M, Larizza L. Natacci F, et al. Am J Med Genet. 2000 Dec 18;95(5):467-72. doi: 10.1002/1096-8628(20001218)95:5<467::aid-ajmg11>3.0.co;2-t. Am J Med Genet. 2000. PMID: 11146468

10

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome.

Finelli P, Giardino D, Russo S, Gottardi G, Cogliati F, Grugni G, Natacci F, Larizza L. Finelli P, et al. Among authors: natacci f. Am J Med Genet. 2001 Apr 1;99(4):308-13. doi: 10.1002/ajmg.1181. Am J Med Genet. 2001. PMID: 11251998

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