Search Results - "Urzua, Abraham"

Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family by Pollak C, Felipe, Lagos L, Marcela, Santos M, José L, Poggi, Helena, Urzúa C, Abraham, Rumié C, Hana

“…Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects…”
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Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion by Urzua, Abraham, Catena, Sofía, Morales, Paulina, Lay-Son, Guillermo

“…Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features…”
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Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome by Urzua, Abraham, Burattini, Sofia, Pinochet, Constanza, Benavides, Felipe, Repetto, Gabriela M.

“…Abstract Beckwith–Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes…”
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Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico by Pollak C., Felipe, Lagos L., Marcela, Santos M., José L., Poggi, Helena, Urzúa C., Abraham, Rumié C., Hana

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Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome by Urzua, Abraham, Burattini, Sofia, Pinochet, Constanza, Benavides, Felipe, Repetto, Gabriela M

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Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico by Pollak C., Felipe, Lagos L., Marcela, Santos M., José L., Poggi, Helena, Urzúa C., Abraham, Rumié C., Hana

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