Castiglia L - Search Results

1

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

2

Genetic variations in human fetal globin gene microsatellites and their functional relevance.

Lapoumeroulie C, Castiglia L, Ruberto C, Fichera M, Amata S, Labie D, Ragusa A. Lapoumeroulie C, et al. Among authors: castiglia l. Hum Genet. 1999 Apr;104(4):307-14. doi: 10.1007/s004390050959. Hum Genet. 1999. PMID: 10369160

3

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

Fichera M, Romano C, Castiglia L, Failla P, Ruberto C, Amata S, Greco D, Cardoso C, Fontés M, Ragusa A. Fichera M, et al. Among authors: castiglia l. Hum Mutat. 1998;12(3):214. Hum Mutat. 1998. PMID: 10660327

4

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW. Friez MJ, et al. Among authors: castiglia l. Hum Genet. 2000 Jan;106(1):36-9. doi: 10.1007/s004390051006. Hum Genet. 2000. PMID: 10982179

5

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.

6

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R. Rossi E, et al. Among authors: castiglia l. J Med Genet. 2001 Jun;38(6):417-20. doi: 10.1136/jmg.38.6.417. J Med Genet. 2001. PMID: 11424927 Free PMC article. No abstract available.

7

Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype.

Ragusa A, Amata S, Lombardo T, Castiglia L, Maier-Redelsperger M, Labie D, Bernini L. Ragusa A, et al. Among authors: castiglia l. Haematologica. 2003 Oct;88(10):1099-105. Haematologica. 2003. PMID: 14555304

8

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

Fichera M, Falco M, Lo Giudice M, Castiglia L, Guarnaccia V, Calì F, Spalletta A, Scuderi C, Avola E. Fichera M, et al. Among authors: castiglia l. Clin Genet. 2005 May;67(5):446-7. doi: 10.1111/j.1399-0004.2005.00436.x. Clin Genet. 2005. PMID: 15811016 No abstract available.

9

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.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

58 results

Search Page

Filters