A. Ragusa

发表

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Dagmar Wieczorek, Roberto Giorda, Marcella Zollino, 2002, American journal of human genetics.

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

C. Romano, R. Borgatti, R. Tenconi, 2001, Journal of medical genetics.

CCR5 and CCR3 expression on T CD3+ lymphocytes from HIV/Leishmania co-infected subjects

C. Vancheri, A. Ragusa, B. Cacopardo, 2007, Medical Microbiology and Immmunology.

Presence of an African β‐globin gene cluster haplotype in normal chromosomes in sicily

D. Labie, R. Nagel, A. Ragusa, 1992 .

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

R. Stevenson, C. Schwartz, M. Friez, 1999, Human Genetics.

Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS 2 + 1 G > A mutation : role of the β-globin gene haplotype

D. Labie, L. Bernini, M. Maier‐Redelsperger, 2003 .

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

D. Labie, L. Bernini, M. Maier‐Redelsperger, 2003, Haematologica.

Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution.

C. Tyler-Smith, K. Kidd, S. Q. Mehdi, 1998, American journal of human genetics.

Relationship of MTHFR gene polymorphisms with renal and cardiac disease.

G. Trovato, F. Trovato, D. Catalano, 2015, World journal of nephrology.

The -158 site 5' to the G gamma gene and G gamma expression.

D. Labie, R. Nagel, A. Ragusa, 1985, Blood.

Prenatal diagnosis of ATR‐X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR‐X gene

M. Fichera, C. Romano, M. Lo Giudice, 2001, Prenatal diagnosis.

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

M. Fichera, C. Romano, N. Philip, 1999, Journal of medical genetics.

Fetal Hemoglobin Expression

D. Labie, A. Ragusa, R. Krishnamoorthy, 2006 .

Nucleotide Variations inthe3'A'y Enhancer RegionAreLinked to IB-Gene Cluster Haplotypes andAreUnrelated to Fetal Hemoglobin Expression

D. Labie, C. Beldjord, A. Ragusa, 1989 .

βS gene in sicily is in linkage disequilibrium with the benin haplotype: Implications for gene flow

D. Labie, R. Nagel, A. Ragusa, 1988, American journal of hematology.

Chemosensitivity of nonleukemic clonogenic precursors in AML patients in complete remission: association with CD34(+) mobilization and with disease-free survival.

D. Tibullo, G. Milone, A. Ragusa, 2012, Experimental hematology.

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

M. Fichera, C. Romano, P. Failla, 2001, Journal of medical genetics.

Intriguing Prevalence of Benin‐Type Sickle Cell Gene on Atypical Haplotypes in Sickle Cell/β‐Thalassemia But Not in Sickle Cell Anemia in Sicily a

J. Elion, A. Ragusa, R. Krishnamoorthy, 1990 .

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

M. Fichera, D. Labie, A. Ragusa, 1999, Human Genetics.

Heterogeneity of haplotypes among patients with severe Cooley disease in Eastern Sicily

D. Labie, A. Ragusa, M. Lombardo, 1986, Human Genetics.

Genetic epidemiology of β‐thalassemia in sicily: Do sequences 5′ to the Gγ gene and 5′ to the β gene interact to enhance HbF expression in β‐thalassemia?

R. Nagel, J. Elion, C. Beldjord, 1992 .

Genetic epidemiology of beta-thalassemia in Sicily: do sequences 5' to the G gamma gene and 5' to the beta gene interact to enhance HbF expression in beta-thalassemia?

R. Nagel, J. Elion, C. Beldjord, 1992, American journal of hematology.

Molecular basis of α-thalassemia in Sicily

M. Fichera, D. Labie, R. Tamouza, 1997, Human Genetics.

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

M. Fichera, C. Romano, D. Condorelli, 2010, BMC Medical Genomics.

Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].

M. Fichera, J. Traeger-Synodinos, E. Kanavakis, 2001, Haematologica.

Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

R. Regan, F. Calì, G. Seidita, 2006, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Celiac disease in Down's syndrome with HLA serological and molecular studies.

C. Romano, G. Bottaro, P. Failla, 1996, Journal of pediatric gastroenterology and nutrition.

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

R. Stevenson, C. Schwartz, M. Friez, 2000 .

Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients

D. Labie, J. Elion, P. Moi, 1993, Human Genetics.

Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression.

D. Labie, R. Nagel, E. Bouhassira, 1989, American Journal of Human Genetics.

Renal Insufficiency in Non-Diabetic Subjects: Relationship of MTHFR C677t Gene Polymorphism and Left Ventricular Hypertrophy

G. Trovato, F. Trovato, D. Catalano, 2013, Renal failure.

Non-alcoholic fatty liver disease (NAFLD) and MTHFR 1298A > C gene polymorphism.

G. Trovato, F. Trovato, D. Catalano, 2014, European review for medical and pharmacological sciences.

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

M. Fichera, A. Ragusa, L. Castiglia, 2003, Human mutation.

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

M. Fichera, C. Romano, M. Fontès, 1998, Human Mutation.

Medial Telangiectatic Sacral Nevi (Types A and C) Associated with Williams Syndrome

P. Bosco, C. Romano, A. Ragusa, 2000, Dermatology.