Search Results - "Furforo, Lilian"

Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies by Massara, Lucía S, Delea, Marisol, Espeche, Lucía, Bruque, Carlos D, Oliveri, Jaen, Brun, Paloma, Furforo, Lilian, Dain, Liliana, Rozental, Sandra

“…Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the…”
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease by Delea, Marisol, Massara, Lucia S, Espeche, Lucia D, Bidondo, María Paz, Barbero, Pablo, Oliveri, Jaen, Brun, Paloma, Fabro, Mónica, Galain, Micaela, Fernández, Cecilia S, Taboas, Melisa, Bruque, Carlos D, Kolomenski, Jorge E, Izquierdo, Agustín, Berenstein, Ariel, Cosentino, Viviana, Martinoli, Celeste, Vilas, Mariana, Rittler, Mónica, Mendez, Rodrigo, Furforo, Lilian, Liascovich, Rosa, Groisman, Boris, Rozental, Sandra, Dain, Liliana, On Behalf Of The Pid Acm-Cc Group

“…Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA)…”
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A der(11)t(4;11)(q21;p15) in a T-ALL/LBL patient by Colli, Sandra, Furforo, Lilian, Rojo Pisarello, Eduardo, Maidana, Marcela, Martín, Carlos, Bordone, Javier, Slavutsky, Irma

“…Translocation t(4;11)(q21;p15) is a rare recurrent change associated to T-cell acute leukemia. In most cases, this alteration appears as the only abnormality…”
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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects by Delea, Marisol, Espeche, Lucía D, Bruque, Carlos D, Bidondo, María Paz, Massara, Lucía S, Oliveri, Jaen, Brun, Paloma, Cosentino, Viviana R, Martinoli, Celeste, Tolaba, Norma, Picon, Claudina, Ponce Zaldua, María Eugenia, Ávila, Silvia, Gutnisky, Viviana, Perez, Myriam, Furforo, Lilian, Buzzalino, Noemí D, Liascovich, Rosa, Groisman, Boris, Rittler, Mónica, Rozental, Sandra, Barbero, Pablo, Dain, Liliana

“…Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its…”
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ANALISIS DE ANOMALIAS CROMOSOMICAS, DESBALANCES GENÓMICOS Y VARIANTES DE SECUENCIA COMO CAUSA DE CARDIOPATÍAS CONGÉNITAS by Delea, Marisol, Massara, Soledad, Bruque, Carlos David, Espeche, Lucía Daniela, Taboas, Melisa Ivana, Barbero, Pablo, Bidondo, María Paz, Liascovich, Rosa, Groisman, Boris, Cosentino, Viviana, Martinoli, Celeste, Furforo, Lilian, Ritler, Mónica, Kolomenski, Emilio, Oliveri, Jaen, Brun, Paloma, Rozental, Sandra, Dain, Liliana Beatriz

“…RESUMEN INTRODUCCIÓN: Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embriofetal. Abarcan un amplio…”
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Asociación MURCS con anomalías no habituales en una recién nacida y su madre. Discusión Etiopatogénica by María Cecilia Martín, Nancy Mazzitelli, Liliana Vauthay, Lilian Furforo, Mónica Rittler

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Proximal trisomy 1q in a girl with developmental delay and minor anomalies by Furforo, Lilian, Rittler, Mónica, Slavutsky, Irma R.

“…We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short…”
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Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas by Marisol Delea, Soledad Massara, Carlos David Bruque, Lucía Daniela Espeche, Melisa Ivana Taboas, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Boris Groisman, Viviana Cosentino, Celeste Martinoli, Lilian Furforo, Mónica Ritler, Emilio Kolomenski, Jaen Oliveri, Paloma Brun, Sandra Rozental, Liliana Beatriz Dain

“…INTRODUCCIÓN: Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embriofetal. Abarcan un amplio espectro de…”
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