Castiglia L - Search Results

1

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

Bartocci A, Striano P, Mancardi MM, Fichera M, Castiglia L, Galesi O, Michelucci R, Elia M. Bartocci A, et al. Among authors: castiglia l. Brain Dev. 2008 Jun;30(6):425-9. doi: 10.1016/j.braindev.2007.11.004. Epub 2007 Dec 31. Brain Dev. 2008. PMID: 18166284

2

How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation.

Borgione E, Giudice ML, Galesi O, Castiglia L, Failla P, Romano C, Ragusa A, Fichera M. Borgione E, et al. Among authors: castiglia l. J Med Genet. 2001 Jan;38(1):E1. doi: 10.1136/jmg.38.1.e1. J Med Genet. 2001. PMID: 11134240 Free PMC article. No abstract available.

3

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

Borgione E, Sturnio M, Spalletta A, Angela Lo Giudice M, Castiglia L, Galesi O, Ragusa A, Fichera M. Borgione E, et al. Among authors: castiglia l. Hum Mutat. 2003 May;21(5):529-34. doi: 10.1002/humu.10183. Hum Mutat. 2003. PMID: 12673795

4

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism.

Striano P, Elia M, Castiglia L, Galesi O, Pelligra S, Striano S. Striano P, et al. Among authors: castiglia l. Epilepsia. 2005 Aug;46(8):1322-4. doi: 10.1111/j.1528-1167.2005.64304.x. Epilepsia. 2005. PMID: 16060948 Free article. No abstract available.

5

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

Castiglia L, Fichera M, Romano C, Galesi O, Grillo L, Sturnio M, Failla P. Castiglia L, et al. Am J Hum Genet. 2005 Nov;77(5):892-4; author reply 894-5. doi: 10.1086/497082. Am J Hum Genet. 2005. PMID: 16252246 Free PMC article. No abstract available.

6

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. Elia M, et al. Among authors: castiglia l. Epilepsia. 2006 May;47(5):830-8. doi: 10.1111/j.1528-1167.2006.00522.x. Epilepsia. 2006. PMID: 16686647 Free article.

7

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q.

Failla P, Romano C, Alberti A, Vasta A, Buono S, Castiglia L, Luciano D, Di Benedetto D, Fichera M, Galesi O. Failla P, et al. Among authors: castiglia l. Clin Genet. 2007 Jun;71(6):599-601. doi: 10.1111/j.1399-0004.2007.00819.x. Clin Genet. 2007. PMID: 17539913 No abstract available.

8

Three new patients with dup(17)(p11.2p11.2) without autism.

Greco D, Romano C, Reitano S, Barone C, Benedetto DD, Castiglia L, Fichera M, Galesi O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, Hayek G, Renieri A. Greco D, et al. Among authors: castiglia l. Clin Genet. 2008 Mar;73(3):294-6. doi: 10.1111/j.1399-0004.2007.00959.x. Epub 2008 Jan 23. Clin Genet. 2008. PMID: 18218042 No abstract available.

9

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. Sharp AJ, et al. Among authors: castiglia l. Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17. Nat Genet. 2008. PMID: 18278044 Free PMC article.

10

12q12 deletion: a new patient contributing to genotype-phenotype correlation.

Failla P, Romano C, Reitano S, Di Benedetto D, Grillo L, Fichera M, Castiglia L. Failla P, et al. Among authors: castiglia l. Am J Med Genet A. 2008 May 15;146A(10):1354-7. doi: 10.1002/ajmg.a.32280. Am J Med Genet A. 2008. PMID: 18412123 No abstract available.

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