Search Results - "De Brasi, D"

Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity by Siano, M A, Marchetti, V, Pagano, S, Di Candia, F, Alessio, M, De Brasi, D, De Luca, A, Pinna, V, Sestito, S, Concolino, D, Tartaglia, M, Strisciuglio, P, D'Esposito, V, Cabaro, S, Perruolo, G, Formisano, P, Melis, D

“…Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of…”
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Endocrine system involvement in patients with RASopathies: A case series by Siano, M A, Pivonello, R, Salerno, M, Falco, M, Mauro, C, De Brasi, D, Klain, A, Sestito, S, De Luca, A, Pinna, V, Simeoli, C, Concolino, D, Mainolfi, Ciro Gabriele, Mannarino, T, Strisciuglio, P, Tartaglia, M, Melis, D

“…Endocrine complications have been described in patients affected by RASopathies but no systematic assessment has been reported. In this study, we investigate…”
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Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR by Rossetti, Liliana C, Radic, Claudia P, Abelleyro, Miguel M, Larripa, Irene B, De Brasi, Carlos D

“…The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe…”
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Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update by DE BRASI, C. D., BOWEN, D. J.

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Developing a new generation of tests for genotyping hemophilia‐causative rearrangements involving int22h and int1h hotspots in the factor VIII gene by ROSSETTI, L. C., RADIC, C. P., LARRIPA, I. B., DE BRASI, C. D.

“…Background: Inversions of F8‐intron 22 (Inv22) and F8‐intron 1 (Inv1) are responsible for 45–50% of severe hemophilia A cases. Objective: In order to improve…”
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Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association by Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F., Cacchiarelli, D.

“…The application of next-generation sequencing (NGS) to clinical practice is still hampered by the ability to interpret the clinical relevance of novel variants…”
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Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects by Rossetti, Liliana C, Radic, Claudia Pamela, Candela, Miguel, Bianco, Raul Perez, de Tezanos Pinto, Miguel, Goodeve, Anne, Larripa, Irene B, De Brasi, Carlos D

“…From the Instituto de Investigaciones Hematológicas Mariano R. Castex, Academia Nacional de Medicina de Buenos Aires, Argentina (LCR, CPR, MC, RPB, MdTP, IBL,…”
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Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis by MACHADO, F. B., ALVES DA SILVA, A. F., ROSSETTI, L. C., DE BRASI, C. D., MEDINA-ACOSTA, E.

“…The extraordinary heterogeneous nature of the deleterious mutations in the F8 gene that lead to functional deficiency of clotting factor VIII in haemophilia A…”
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SOCRATIC IGNORANCE, INTELLECTUAL HUMILITY AND INTELLECTUAL AUTONOMY by BRASI, LEANDRO DE, BOERI, MARCELO D.

“…Abstract A recent stream of epistemology gives special relevance to ignorance within the framework of an epistemological theory. Indeed, some want to give a…”
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Haemophilia B, severe childhood obesity and other extra‐haematological features associated with similar 4Mb‐deletions on Xq27: Clinical findings, molecular insights and literature update by Radic, Claudia P., Abelleyro, Miguel M., Ziegler, Betiana, Marchione, Vanina D., Nevado, Julián, Lapunzina, Pablo, Sciuccati, Gabriela, Neme, Daniela, Rossetti, Liliana C., Bonduel, Mariana, De Brasi, Carlos D.

“…Introduction Haemophilia B (HB) is associated with pathogenic variants in F9. Hemizygous deletions encompassing the entire F9 and proximate genes may express…”
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Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: proof of concept by Gutiérrez, Leandro G, Abelleyro, Miguel M, Ruiz, María Sol, Anchordoqui, María Sol, Freitas, Josefina, Bianchini, Michele, De Brasi, Carlos D, Larripa, Irene B

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A new polymorphism in the human factor VIII gene : implications for linkage analysis in haemophilia A and for the evolution of int22h sequences by BOWEN, Derrick J, DE BRASI, Carlos D, LARRIPA, Irene B, COLLINS, Peter W

“…A new polymorphism in the human factor VIII gene has been localized and characterized. It is a biallelic, single nucleotide polymorphism located in intron 22…”
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Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature by Garavelli, L., Zollino, M., Mainardi, P. Cerruti, Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., Faravelli, F., Forzano, F., Seri, M., Wischmeijer, A., Turchetti, D., Pompilii, E., Gnoli, M., Cocchi, G., Mazzanti, L., Bergamaschi, R., De Brasi, D., Sperandeo, M.P., Mari, F., Uliana, V., Mostardini, R., Cecconi, M., Grasso, M, Sassi, S., Sebastio, G., Renieri, A., Silengo, M., Bernasconi, S., Wakamatsu, N., Neri, G.

“…Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical…”
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The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males by De Brasi, Carlos D, Bowen, Derrick J, Collins, Peter W, Larripa, Irene B

“…The inactivation of one of the two X chromosomes in females is a random process associated with methylation principally in CpG islands. The methylation status…”
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Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long‐distance PCR by De Brasi, Carlos D., Bowen, Derrick J., Collins, Peter W., Larripa, Irene B.

“…A rapid, non‐radioactive, PCR‐based method to genotype the XbaI restriction fragment length polymorphism of the human factor VIII gene is described. The method…”
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Phenotype–genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X‐chromosome inactivation by Radic, C. P., Rossetti, L. C., Abelleyro, M. M., Tetzlaff, T., Candela, M., Neme, D., Sciuccati, G., Bonduel, M., Medina‐Acosta, E., Larripa, I. B., Tezanos Pinto, M., De Brasi, C. D.

“…Summary Background The recessive X‐linked disorder hemophilia A (HA) is rarely expressed in female carriers, most of whom express about half of normal…”
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A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A by Marchione, V. D., Zuccoli, J. R., Abelleyro, M. M., Radic, C. P., Neme, D., Candela, M., Tezanos Pinto, M., De Brasi, C. D., Rossetti, L. C.

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Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4 by Shaw, MA, Brunetti-Pierri, N, Kádasi, L, Kovácová, V, Van Maldergem, L, De Brasi, D, Salerno, M, Gécz, J

“…Spondyloepiphyseal dysplasia tarda (SEDT) is an X‐linked recessive disorder, characterized by disproportionately short stature and degenerative joint disease,…”
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Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism by Citterio, Cintia E., Rossetti, Liliana C., Souchon, Pierre F., Morales, Cecilia, Thouvard-Viprey, Mathilde, Salmon-Musial, Anne S., Mauran, Pierre L.A., Doco-Fenzy, Martine, González-Sarmiento, Rogelio, Rivolta, Carina M., De Brasi, Carlos D., Targovnik, Héctor M.

“…•We report patients with hypothyroidism due to a thyroglobulin (TG) gene mutation.•Molecular analysis reveals a novel imperfect DNA inversion within the TG…”
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Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene by Titomanlio, L., De Brasi, D., Buoninconti, A., Sperandeo, M.P., Pepe, A., Andria, G., Sebastio, G.

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