Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A

Authors: Abelleyro, Miguel Martín, Radic, Claudia Pamela, Marchione, Vanina Daniela, Waisman, Karen, Tetzlaff, Tomas, Neme, Daniela, Rossetti, Liliana Carmen, De Brasi, Carlos Daniel

Source: Human mutation. 41(4):825-836

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106847759.0x000001&indx=1&recIds=ETOCvdc_100106847759.0x000001

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Authors: Ziegler, Betiana Michelle, Abelleyro, Miguel Martin, Marchione, Vanina Daniela, Lazarte, Nicolás, Ledesma, Martín Manuel, Elhelou, Ludmila, Neme, Daniela, Rossetti, Liliana Carmen, Medina-Acosta, Enrique, Giliberto, Florencia, De Brasi, Carlos, Radic, Claudia Pamela

Source: Journal of Medical Genetics; Aug2024, Vol. 61 Issue 8, p769-776, 15p

Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization

Authors: Giliberto, Florencia, Radic, Claudia Pamela, Luce, Leonela, Ferreiro, Verónica, de Brasi, Carlos, Szijan, Irene

Source: In Journal of the Neurological Sciences 15 January 2014 336(1-2):36-41

Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia

Authors: Abelleyro, Miguel Martín, Marchione, Vanina Daniela, Palmitelli, Micaela, Radic, Claudia Pamela, Neme, Daniela, Larripa, Irene Beatriz, Medina-Acosta, Enrique, De Brasi, Carlos Daniel, Rossetti, Liliana Carmen

Source: European Journal of Human Genetics: EJHG; April 2019, Vol. 27 Issue: 4 p603-611, 9p

Severe Hemophilia A in a Patient with Sexual Differentiation Disorder: A Case Report

Authors: Sánchez Lucero, Analía ^*, Veber, Samuel Ernesto ^*, Casanovas, Alejandra ^*, Martinez, Gabriela ^*, D'Aloi, Karina ^*, Elena, Graciela Onelda ^*, Radic, Claudia Pamela ^*, Abelleyro, Miguel Martín ^*, Bruno, Salvador

Source: In Blood 8 December 2017 130 Supplement 1:4884-4884

F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.

Authors: Abelleyro, Miguel Martín, Rossetti, Liliana Carmen, de los Ángeles Curto, María, Radic, Claudia Pamela, Marchione, Vanina Daniela, De Brasi, Carlos Daniel

Source: Thrombosis & Haemostasis; 2016, Vol. 115 Issue 5, p678-681, 4p

5^meCpG Epigenetic Marks Neighboring a Primate-Conserved Core Promoter Short Tandem Repeat Indicate X-Chromosome Inactivation.

Authors: Machado, Filipe Brum, Machado, Fabricio Brum, Faria, Milena Amendro, Lovatel, Viviane Lamim, Alves da Silva, Antonio Francisco, Radic, Claudia Pamela, De Brasi, Carlos Daniel, Rios, Álvaro Fabricio Lopes, de Sousa Lopes, Susana Marina Chuva, da Silveira, Leonardo Serafim, Ruiz-Miranda, Carlos Ramon, Ramos, Ester Silveira, Medina-Acosta, Enrique

Source: PLoS ONE; Jul2014, Vol. 9 Issue 7, p1-13, 13p

Subject Terms: EPIGENETICS, GENETIC markers, PROMOTERS (Genetics), TANDEM repeats, X chromosome, CYTOSINE

This result is not displayed to guests.
Login for full access.

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B

Authors: Radic, Claudia Pamela, Rossetti, Liliana Carmen, Abelleyro, Miguel Martín, Candela, Miguel, Bianco, Raúl Pérez, Pinto, Miguel de Tezanos, Larripa, Irene Beatriz, Goodeve, Anne, Brasi, Carlos Daniel De

Source: Thrombosis and Haemostasis; January 2013, Vol. 109 Issue: 1 p24-33, 10p

This result is not displayed to guests.
Login for full access.