Natacci F - Search Results

1

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Ronzoni L, Boito S, Meossi C, Cesaretti C, Rinaldi B, Agolini E, Rizzuti T, Pezzoli L, Silipigni R, Novelli A, Iascone M, Persico N, Natacci F. Ronzoni L, et al. Among authors: natacci f. Prenat Diagn. 2022 Nov;42(12):1493-1502. doi: 10.1002/pd.6204. Epub 2022 Jul 19. Prenat Diagn. 2022. PMID: 35788948 Review.

2

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. Natacci F, et al. Prenat Diagn. 2007 Jun;27(6):568-72. doi: 10.1002/pd.1728. Prenat Diagn. 2007. PMID: 17367103

3

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. Bedeschi MF, et al. Among authors: natacci f. Am J Med Genet A. 2008 Jul 1;146A(13):1718-24. doi: 10.1002/ajmg.a.32365. Am J Med Genet A. 2008. PMID: 18512229

4

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. Natacci F, et al. Clin Dysmorphol. 2009 Jan;18(1):45-48. doi: 10.1097/MCD.0b013e328317c867. Clin Dysmorphol. 2009. PMID: 19050404 No abstract available.

5

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. Cesaretti C, et al. Among authors: natacci f. Am J Med Genet A. 2013 Feb;161A(2):386-8. doi: 10.1002/ajmg.a.35720. Epub 2013 Jan 16. Am J Med Genet A. 2013. PMID: 23325535 No abstract available.

6

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

7

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. Natacci F, et al. Cytogenet Genome Res. 2015;146(1):44-50. doi: 10.1159/000435796. Epub 2015 Jul 22. Cytogenet Genome Res. 2015. PMID: 26201389

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. Bianchessi D, et al. Among authors: natacci f. Mol Genet Genomic Med. 2015 Jul 7;3(6):513-25. doi: 10.1002/mgg3.161. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740943 Free PMC article.

9

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

10

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. Tucci A, et al. Among authors: natacci f. J Hum Genet. 2018 Mar;63(3):391. doi: 10.1038/s10038-017-0369-8. Epub 2018 Feb 7. J Hum Genet. 2018. PMID: 29479078

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