Imperati F - Search Results

1

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

Titomanlio L, Pierri NB, Romano A, Imperati F, Borrelli M, Barletta V, Diano AA, Castaldo I, Santoro L, Del Giudice E. Titomanlio L, et al. Among authors: imperati f. Am J Med Genet A. 2005 Jul 15;136(2):198-200. doi: 10.1002/ajmg.a.30795. Am J Med Genet A. 2005. PMID: 15940696

2

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E. Terrone G, et al. Among authors: imperati f. Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29. Eur J Med Genet. 2012. PMID: 22659270

3

Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?

Del Giudice E, Bianchi MC, Tosetti M, Varrone A, Romano A, Crisanti AF, Titomanlio L, Imperati F. Del Giudice E, et al. Among authors: imperati f. Epileptic Disord. 2006 Dec;8(4):289-93. Epileptic Disord. 2006. PMID: 17150443 Free article.

4

Hormonal and neuropsychological evaluation of two 47,XYY patients with pituitary abnormalities.

Lettiero T, Del Giudice E, Imperati F, Ciao A, Capalbo D, Salerno M. Lettiero T, et al. Among authors: imperati f. Am J Med Genet A. 2008 Feb 1;146A(3):397-400. doi: 10.1002/ajmg.a.32123. Am J Med Genet A. 2008. PMID: 18203161 No abstract available.

5

An emerging phenotype of proximal 11q deletions.

Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G. Melis D, et al. Among authors: imperati f. Eur J Med Genet. 2010 Sep-Oct;53(5):340-3. doi: 10.1016/j.ejmg.2010.07.010. Epub 2010 Aug 3. Eur J Med Genet. 2010. PMID: 20688202

6

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.

Melis D, Genesio R, Boemio P, Del Giudice E, Cappuccio G, Mormile A, Ronga V, Conti A, Imperati F, Nitsch L, Andria G. Melis D, et al. Among authors: imperati f. Am J Med Genet A. 2012 Apr;158A(4):832-5. doi: 10.1002/ajmg.a.34133. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407589

7

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Among authors: imperati f. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372

8

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.

Terrone G, Pinelli M, Bernardo P, Parrini E, Imperati F, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Among authors: imperati f. Eur J Paediatr Neurol. 2020 Sep;28:237-239. doi: 10.1016/j.ejpn.2020.07.008. Epub 2020 Aug 3. Eur J Paediatr Neurol. 2020. PMID: 32811770

9

Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients.

Broccoletti T, Del Giudice E, Amorosi S, Russo I, Di Bonito M, Imperati F, Romano A, Pignata C. Broccoletti T, et al. Among authors: imperati f. Eur J Neurol. 2008 Mar;15(3):223-8. doi: 10.1111/j.1468-1331.2008.02060.x. Eur J Neurol. 2008. PMID: 18290844 Clinical Trial.

10

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.

Pinelli M, Terrone G, Troglio F, Squeo GM, Cappuccio G, Imperati F, Pignataro P, Genesio R, Nitch L, Del Giudice E, Merla G, Testa G, Brunetti-Pierri N. Pinelli M, et al. Among authors: imperati f. Clin Genet. 2020 Jun;97(6):940-942. doi: 10.1111/cge.13753. Epub 2020 Apr 29. Clin Genet. 2020. PMID: 32349160 Free PMC article.

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