Del Giudice E - Search Results

1

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: del giudice e. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472

2

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.

Scala I, Titomanlio L, Del Giudice E, Passemard S, Figliuolo C, Annunziata P, Granese B, Scarpato E, Verloes A, Andria G. Scala I, et al. Among authors: del giudice e. Am J Med Genet A. 2010 Nov;152A(11):2882-5. doi: 10.1002/ajmg.a.33672. Am J Med Genet A. 2010. PMID: 20949544 No abstract available.

3

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: del giudice e. 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

4

Cerebellar agenesis.

Titomanlio L, Romano A, Del Giudice E. Titomanlio L, et al. Among authors: del giudice e. Neurology. 2005 Mar 22;64(6):E21. doi: 10.1212/wnl.64.6.e21. Neurology. 2005. PMID: 15781801 No abstract available.

5

Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.

Titomanlio L, De Brasi D, Romano A, Genesio R, Diano AA, Del Giudice E. Titomanlio L, et al. Among authors: del giudice e. Acta Paediatr. 2006 Jul;95(7):861-3. doi: 10.1080/08035250500527307. Acta Paediatr. 2006. PMID: 16801186

6

Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.

Del Giudice E, Striano S, Andria G. Del Giudice E, et al. Clin Neurol Neurosurg. 1983;85(3):165-8. doi: 10.1016/0303-8467(83)90046-x. Clin Neurol Neurosurg. 1983. PMID: 6315290

7

Megalocornea and mental retardation syndrome: two new cases.

Del Giudice E, Sartorio R, Romano A, Carrozzo R, Andria G. Del Giudice E, et al. Am J Med Genet. 1987 Feb;26(2):417-20. doi: 10.1002/ajmg.1320260220. Am J Med Genet. 1987. PMID: 3812592

8

Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

Titomanlio L, Romano A, Conti A, Genesio R, Salerno M, De Brasi D, Nitsch L, Del Giudice E. Titomanlio L, et al. Among authors: del giudice e. Am J Med Genet A. 2004 Jun 1;127A(2):197-200. doi: 10.1002/ajmg.a.20667. Am J Med Genet A. 2004. PMID: 15108211

9

Diagnosis delay in West syndrome: misdiagnosis and consequences.

Auvin S, Hartman AL, Desnous B, Moreau AC, Alberti C, Delanoe C, Romano A, Terrone G, Kossoff EH, Del Giudice E, Titomanlio L. Auvin S, et al. Among authors: del giudice e. Eur J Pediatr. 2012 Nov;171(11):1695-701. doi: 10.1007/s00431-012-1813-6. Epub 2012 Aug 15. Eur J Pediatr. 2012. PMID: 22892960

10

Familial occurrence of early-onset childhood absence epilepsy.

Titomanlio L, Romano A, Bellini G, Pascotto A, Iuliano R, Miraglia Del Giudice E, Del Giudice E. Titomanlio L, et al. Among authors: del giudice e. Eur J Paediatr Neurol. 2007 May;11(3):178-80. doi: 10.1016/j.ejpn.2006.12.005. Epub 2007 Jan 30. Eur J Paediatr Neurol. 2007. PMID: 17267250

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