Search Results - "Abelleyro, M M"

Analysis of complex structural variants in the DMD gene in one family by Luce, Leonela, Abelleyro, Martín M., Carcione, Micaela, Mazzanti, Chiara, Rossetti, Liliana, Radic, Pamela, Szijan, Irene, Menazzi, Sebastián, Francipane, Liliana, Nevado, Julián, Lapunzina, Pablo, De Brasi, Carlos, Giliberto, Florencia

“…•DMD complex structural variant molecular characterization by SNP-array and WGS.•Familial study showed mutational timeline, ancestral duplication and de novo…”
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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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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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Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR by Abelleyro, M. M., Radic, C. P., Tetzlaff, T., Marchione, V., Fundia, A. F., Larripa, I. B., Rossetti, L. C., De Brasi, C. D.

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Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks by Rossetti, L. C., Szurkalo, I., Radic, C. P., Abelleyro, M. M., Primiani, L., Neme, D., Candela, M., Bianco, R. P., de Tezanos Pinto, M., Larripa, I. B., De Brasi, C. D.

“…Summary Inhibitor development against exogenous factor VIII is a severe impairment of replacement therapy affecting 18% of Argentine patients with severe…”
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Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms by Pio, Mauricio Gomes, Siffo, Sofia, Scheps, Karen G., Molina, Maricel F., Adrover, Ezequiela, Abelleyro, Miguel M., Rivolta, Carina M., Targovnik, Héctor M.

“…Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the…”
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Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review by Molina, Maricel F., Pio, Mauricio Gomes, Scheps, Karen G., Adrover, Ezequiela, Abelleyro, Miguel M., Targovnik, Héctor M., Rivolta, Carina M.

“…Thyroid peroxidase (TPO) is a membrane-bound glycoprotein located at the apical side of the thyroid follicular cells that catalyzes both iodination and…”
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Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples by Radic, Claudia P., Rossetti, Liliana C., Zuccoli, Johanna R., Abelleyro, Martín M., Larripa, Irene B., De Brasi, Carlos D.

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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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CARACTERIZACIÓN DE VARIANTES ESTRUCTURALES Y SUS MECANISMOS MOLECULARES ASOCIADOS. ANÁLISIS BIOINFOMÁTICO EN PACIENTES CON HEMOFILIA by Abelleyro, M

“…La hemofilia A (HA) es una coagulopatía hereditaria ligada al cromosoma X, que afecta a 1 de cada 10.000 varones y es causada por variantes en el gen del…”
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PB0164 Full Characterization of Three F8 Deletions Causing Severe Hemophilia A with High Responding FVIII Inhibitors may be Associated with the Mechanism of Microhomology-Mediated Break-Induced Replication by Abelleyro, M., Ziegler, B., Neme, D., Rossetti, L., Radic, C., De Brasi, C.

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EP.62A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman by Luce, L., Carcione, M., Mazzanti, C., Szijan, I., Menazzi, S., Francipane, L., Nevado, J., Lapunzina, P., Rossetti, L., Radic, P., Abelleyro, M., De Brasi, C., Giliberto, F.

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ANÁLISIS FARMACOGENÉTICO DE LAS VARIANTES RS4680 Y RS4633 DEL GEN COMT EN PACIENTES ARGENTINOS CON DOLOR by Fontecha, M B, Abelleyro, M M, Fontanini, E A, Anadón, M R, De Brasi, C D, Sivanto, M V, Fundia, A F

“…Las variantes del gen de la catecol-metiltransferasa (COMT) actúan como reguladores de las vías de señalización del dolor y están asociadas con las diferencias…”
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ANÁLISIS BIOINFORMÁTICO DE PUNTOS DE RUPTURA DE UNA VARIANTE ESTRUCTURAL DEL F8 ORIGINADA POR RECOMBINACIÓN NO-HOMÓLOGA CAUSAL DE HEMOFILIA A SEVERA by Waisman, K, Ziegler, B M, Marchione, V D, Radic, P, Rossetti, L, Abelleyro, M

“…Aunque el 8-15% de las Hemofilias A severas (HAS) son causadas por grandes deleciones del F8, muy pocas son caracterizadas y menos aún investigadas para…”
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FARMACOGENÉTICA DE LA ANALGESIA CON OPIÁCEOS EN PACIENTES ARGENTINOS CON DOLOR CRÓNICO by Abelleyro, M, Fontanini, E A, Fontecha, M B, De Brasi, C D, Sivanto, M D V, Fundia, A F

“…El dolor crónico es una enfermedad multifactorial que afecta al 22% de los pacientes en el mundo que es tratado con opiáceos. La heterogeneidad en la respuesta…”
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ANÁLISIS DE FENOTIPOS METABOLIZADORES EN PACIENTES ARGENTINOS CON DOLOR CRÓNICO TRATADOS CON OPIOIDES by Fontecha, MB, Fontanini, EA, Abelleyro, MM, Anadón, MDR, De Brasi, CD, Sivanto, M, Fundia, AF

“…Los opioides se utilizan frecuentemente para el dolor crónico (DC), aunque hay gran variabilidad en la eficacia terapéutica. La principal enzima metabolizadora…”
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CORRELACIÓN FENOTÍPICA/MOSAICO GERMINAL Y SOMÁTICO EN UNA FAMILIA AFECTADA POR HEMOFILIA A SEVERA-LEVE: IMPLICANCIAS CLÍNICAS Y DIAGNÓSTICAS by Marchione, VD, Abelleyro, MM, Radic, CP, Rossetti, LC, Neme, D, Elhelou, L, Brasi, CD De, VD, Marchione

“…La Hemofilia A (HA) es una coagulopatía ligada al X recesiva prevalente (1:5000) causada por defectos en el F8 que se expresa en varones hemicigotas y muy…”
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