Výsledky vyhledávání - "Angela Ragusa"

Annotated Definition of BCL11A and HMIP-2 Haplotypes Through the Analysis of Sicilian β-Thalassemia Patients with High Levels of Fetal Hemoglobin

Autor: Concetta Ruberto, Dominique Labie, Sonia Spina, And Angela Ragusa, Maria Antonietta Buccheri, Turi Lombardo

Publikováno v: Hemoglobin. 37:423-434

Fetal hemoglobin (Hb F) is the principal ameliorating factor of β-thalassemia (β-thal) and sickle cell disease. Persistent production in adult life is a quantitative trait regulated by loci inside or outside the β-globin gene cluster. From genome-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b38c5d5f5f68dcb79a1c425c511abe
https://doi.org/10.3109/03630269.2013.800823

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Relationship of MTHFR gene polymorphisms with renal and cardiac disease

Autor: Angela Ragusa, Maria Antonietta Buccheri, Guglielmo M. Trovato, Daniela Catalano, Clara Pirri, Francesca M. Trovato, G. Fabio Martines, Concetta Di Nora

AIM: To investigate the effects of different methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism and hyperhomocysteinemia for the development of renal failure and cardiovascular events, which are controversial. METHODS: We challenged

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8b95ae2e328e635dc84c5a9b13e5b3
https://europepmc.org/articles/PMC4317623/

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

Autor: Angela Ragusa, Angela Spalletta, Ornella Galesi, Lucia Castiglia, Eugenia Borgione, Maurizio Sturnio, Marco Fichera, Maria Angela Lo Giudice

Publikováno v: Human Mutation. 21:529-534

Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d49ebc4da627710c13c963cd44910c6
https://doi.org/10.1002/humu.10183

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Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation

Autor: Marcella Zollino, Silvana Guerneri, Mario Ventura, Angelo Selicorni, Roberto Giorda, Giuliana Gregato, Holger Tönnies, Angela Ragusa, Sabrina Giglio, Mariano Rocchi, Silvia Camanini, Vladimiro Calvari, Dagmar Wieczorek, Giorgio Gimelli, Orsetta Zuffardi, John C K Barber, Giovanni Neri, Marcus Stumm

Publikováno v: The American Journal of Human Genetics. 71:276-285

The t(4;8)(p16;p23) translocation, in either the balanced form or the unbalanced form, has been reported several times. Taking into consideration the fact that this translocation may be undetected in routine cytogenetics, we find that it may be the m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::323c48d4492914ec8dd5a118df6b7963
https://doi.org/10.1086/341610

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Renal insufficiency in non-diabetic subjects: relationship of MTHFR C677t gene polymorphism and left ventricular hypertrophy

Autor: Clara Pirri, Francesca M. Trovato, Concetta Di Nora, G. Fabio Martines, Guglielmo M. Trovato, Daniela Catalano, Antonia Tonzuso, Maria Antonietta Buccheri, Angela Ragusa

Association of methylenetetrahydrofolate reductase (MTHFR) 677CT gene polymorphism with hyperhomocysteinemia, renal failure, and cardiovascular events is controversial. We investigated the relationship of MTHFR 677CT polymorphisms with left ventricul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56004d837b112e250ccda619dd1d8a50
http://hdl.handle.net/20.500.11769/13829

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Celiac Disease in Down's Syndrome with HLA Serological and Molecular Studies

Autor: M. C. Pagano, Corrado Romano, Pinella Failla, Bottaro G, Bruno Perichon, M. Lombardo, Rajagopal Krishnamoorthy, C. Ruberto, Angela Ragusa

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition. 23:303-306

The association between Down's syndrome (DS) and celiac disease (CD) has been confirmed by several authors. The sensitivity and specificity of antigliadin antibodies (AGAs), the clinical features of subjects with DS and CD (DS-CD+), the incidence of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d965491e52f4dfdff11a9c313d9e3a2
https://doi.org/10.1097/00005176-199610000-00016

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

Autor: Valentino Romano, Donatella Greco, Marinella Zingale, Maria Antonietta Di Bella, Regina Regan, Alessia Gallo, Rosalba D'Anna, Francesco Calì, Giovanna Gambino, Angela Ragusa, Mario G. Mirisola, Maria Carmela Carbone, Alda Ragalmuto, Ornella Galesi, Maurizio Elia, Gregorio Seidita

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (6)

Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56018fe459f06ab0a926e0c8c2886f15
https://pubmed.ncbi.nlm.nih.gov/16823807

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