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Items: 43

1.

NF1 Alterations are Linked to Increased HER2 Expression in Breast Cancer-Letter.

Gambini D, Natacci F, Cesaretti C, Fusco N.

Cancer Prev Res (Phila). 2019 Mar;12(3):195-196. doi: 10.1158/1940-6207.CAPR-18-0392. Epub 2019 Feb 21. No abstract available.

PMID:
30792346
2.

Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1).

Filopanti M, Verga U, Ulivieri FM, Giavoli C, Rodari G, Arosio M, Natacci F, Spada A.

Calcif Tissue Int. 2019 Feb;104(2):207-213. doi: 10.1007/s00223-018-0488-z. Epub 2018 Nov 12.

PMID:
30421324
3.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O.

Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22.

PMID:
30412329
4.

Correction: 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.

J Hum Genet. 2018 Mar;63(3):391. doi: 10.1038/s10038-017-0369-8. Epub 2018 Feb 7.

PMID:
29479078
5.

Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.

Biasucci G, Morelli N, Natacci F, Mastrangelo M.

Ital J Pediatr. 2018 Jan 15;44(1):8. doi: 10.1186/s13052-018-0450-8.

6.

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.

J Hum Genet. 2017 Nov;62(11):1001-1004. doi: 10.1038/jhg.2017.78. Epub 2017 Jul 27. Erratum in: J Hum Genet. 2018 Mar;63(3):391.

PMID:
28747691
7.

COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma.

Galbiati S, Monguzzi A, Damin F, Soriani N, Passiu M, Castellani C, Natacci F, Curcio C, Seia M, Lalatta F, Chiari M, Ferrari M, Cremonesi L.

J Med Genet. 2016 Jul;53(7):481-7. doi: 10.1136/jmedgenet-2015-103229. Epub 2016 Feb 24.

PMID:
26912453
8.

126 novel mutations in Italian patients with neurofibromatosis type 1.

Bianchessi D, Morosini S, Saletti V, Ibba MC, Natacci F, Esposito S, Cesaretti C, Riva D, Finocchiaro G, Eoli M.

Mol Genet Genomic Med. 2015 Jul 7;3(6):513-25. doi: 10.1002/mgg3.161. eCollection 2015 Nov.

9.

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

Natacci F, Alfei E, Tararà L, D'Arrigo S, Zuffardi O, Gentilin B, Pantaleoni C.

Eur J Paediatr Neurol. 2016 Jan;20(1):183-7. doi: 10.1016/j.ejpn.2015.09.010. Epub 2015 Oct 22.

PMID:
26565673
10.

Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue.

Natacci F, Melloni G, Motta F, Silipigni R, Doniselli F, Rizzuti T, Frigerio M, Guerneri S.

Cytogenet Genome Res. 2015;146(1):44-50. doi: 10.1159/000435796. Epub 2015 Jul 22.

PMID:
26201389
11.

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Ferri L, Donati MA, Funghini S, Cavicchi C, Pensato V, Gellera C, Natacci F, Spaccini L, Gasperini S, Vaz FM, Cooper DN, Guerrini R, Morrone A.

Eur J Hum Genet. 2015 Dec;23(12):1708-12. doi: 10.1038/ejhg.2015.50. Epub 2015 Mar 18.

12.

Healthcare transition in patients with rare genetic disorders with and without developmental disability: neurofibromatosis 1 and Williams-Beuren syndrome.

Van Lierde A, Menni F, Bedeschi MF, Natacci F, Guez S, Vizziello P, Costantino MA, Lalatta F, Esposito S.

Am J Med Genet A. 2013 Jul;161A(7):1666-74. doi: 10.1002/ajmg.a.35982. Epub 2013 May 21.

PMID:
23696535
13.

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.

J Child Neurol. 2013 Nov;28(11):1463-1466. Epub 2013 Apr 22.

PMID:
23611886
14.

Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis.

Cesaretti C, Melloni G, Quagliarini D, Fogliani R, Zaina B, Bedeschi MF, Lalatta F, Trespidi L, Natacci F.

Am J Med Genet A. 2013 Feb;161A(2):386-8. doi: 10.1002/ajmg.a.35720. Epub 2013 Jan 16. No abstract available.

PMID:
23325535
15.

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.

Dilena R, Abicht A, Sergi P, Comi GP, Di Fonzo A, Chidini G, Natacci F, Barbieri S, Lochmüller H.

J Child Neurol. 2014 Mar;29(3):389-93. doi: 10.1177/0883073812470000. Epub 2013 Jan 4.

PMID:
23292760
16.

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.

Finelli P, Sirchia SM, Masciadri M, Crippa M, Recalcati MP, Rusconi D, Giardino D, Monti L, Cogliati F, Faravelli F, Natacci F, Zoccante L, Bernardina BD, Russo S, Larizza L.

Mol Cytogenet. 2012 Apr 4;5:16. doi: 10.1186/1755-8166-5-16.

17.

Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.

Viola F, Villani E, Natacci F, Selicorni A, Melloni G, Vezzola D, Barteselli G, Mapelli C, Pirondini C, Ratiglia R.

Ophthalmology. 2012 Feb;119(2):369-75. doi: 10.1016/j.ophtha.2011.07.046. Epub 2011 Oct 2.

18.

Double pituitary and conserved function in an adult patient with neurofibromatosis type 1.

Filopanti M, Verga U, Ermetici F, Natacci F, Lalatta F, Avignone S, Trespidi L, Beck-Peccoz P, Mantovani G, Lania AG, Spada A.

J Clin Endocrinol Metab. 2011 Jul;96(7):1953-4. doi: 10.1210/jc.2011-0451. No abstract available.

PMID:
21734002
19.

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F.

Orphanet J Rare Dis. 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7.

20.

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.

Am J Med Genet A. 2011 Feb;155A(2):353-9. doi: 10.1002/ajmg.a.33819. Epub 2011 Jan 13.

PMID:
21271653
21.

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

Larizza L, Gervasini C, Natacci F, Riva P.

Curr Mol Med. 2009 Jun;9(5):634-53. Review.

PMID:
19601812
22.

Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings.

Natacci F, Bianchi V, Guerneri S, Rizzuti T, Boito S, Gentilin B, Bedeschi MF, Lalatta F.

Clin Dysmorphol. 2009 Jan;18(1):45-8. doi: 10.1097/MCD.0b013e328317c867. No abstract available.

PMID:
19050404
23.

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.

Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, Natacci F, Giuffrida MG, Ficarazzi P, Dallapiccola B, Lalatta F.

Am J Med Genet A. 2008 Jul 1;146A(13):1718-24. doi: 10.1002/ajmg.a.32365.

PMID:
18512229
24.

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

Gentilin B, Guerneri S, Bianchi V, Natacci F, Colombo A, Fogliani R, Fortuna R, Coviello DA, Curcio C, Lalatta F.

Twin Res Hum Genet. 2008 Jun;11(3):352-6. doi: 10.1375/twin.11.3.352. Review.

PMID:
18498214
25.

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

Natacci F, Baffico M, Cavallari U, Bedeschi MF, Mura I, Paffoni A, Setti PL, Baldi M, Lalatta F.

Am J Med Genet A. 2008 Mar 15;146A(6):784-6. doi: 10.1002/ajmg.a.32228.

PMID:
18266238
26.

Norman-Roberts syndrome: characterization of the phenotype in early fetal life.

Natacci F, Bedeschi MF, Righini A, Inverardi F, Rizzuti T, Boschetto C, Triulzi F, Spreafico R, Frassoni C, Lalatta F.

Prenat Diagn. 2007 Jun;27(6):568-72.

PMID:
17367103
27.

Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression.

Bedeschi MF, Escande F, Bellini M, Natacci F, Cavallari U, Lalatta F.

Clin Dysmorphol. 2006 Oct;15(4):239-41.

PMID:
16957482
28.

Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations.

Ruggeri A, Dulcetti F, Miozzo M, Grati FR, Grimi B, Bellato S, Natacci F, Maggi F, Simoni G.

Prenat Diagn. 2004 Dec 15;24(12):997-1000.

PMID:
15614836
29.

Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes.

Bedeschi MF, Spaccini L, Rizzuti T, Coviello DA, Castorina P, Natacci F, Lalatta F.

Am J Med Genet A. 2005 Jan 30;132A(3):329-30. Review. No abstract available.

PMID:
15523630
30.

The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration.

Nicolini U, Lalatta F, Natacci F, Curcio C, Bui TH.

Hum Reprod Update. 2004 Nov-Dec;10(6):541-8. Review.

PMID:
15514017
31.

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.

Clin Dysmorphol. 2004 Oct;13(4):255-6.

PMID:
15365464
32.

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.

J Med Genet. 2004 Jul;41(7):e90. No abstract available.

33.

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.

J Med Genet. 2004 Jan;41(1):35-41. No abstract available.

34.

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.

Hum Genet. 2003 Nov;113(6):551-4. Epub 2003 Sep 6.

PMID:
13680360
35.

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.

Giardino D, Finelli P, Russo S, Gottardi G, Rodeschini O, Atza MG, Natacci F, Larizza L.

Am J Med Genet. 2002 Aug 15;111(3):319-23.

PMID:
12210331
36.

FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts.

Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L.

Am J Med Genet. 2001 Nov 22;104(2):157-64.

PMID:
11746048
37.

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.

Am J Med Genet. 2001 Apr 1;99(4):308-13.

PMID:
11251998
38.

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.

Am J Med Genet. 2000 Dec 18;95(5):467-72.

PMID:
11146468
39.

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.

Clin Dysmorphol. 2000 Jul;9(3):157-62.

PMID:
10955473
40.

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.

Mol Cell Probes. 1999 Dec;13(6):415-20.

PMID:
10657145
41.

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.

Am J Hum Genet. 2000 Jan;66(1):100-9.

42.

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

Natacci F, Pierri M, Rossetti M, Sala M, Larizza L.

Am J Med Genet. 1999 Apr 23;83(5):419-21.

PMID:
10232755
43.

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.

Am J Med Genet. 1998 Jan 23;75(3):304-8.

PMID:
9475603

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