Výsledky vyhledávání - "Elizabeth Acosta-Fernández"

Akademický článek

Utilidad de la técnica de MS-MLPA en el diagnóstico de los síndromes de Beckwith-Wiedemann y Silver-Russell

Autor: Elizabeth Acosta-Fernández, Jorge R. Corona-Rivera, Izabel M. Ríos-Flores, Elizabeth Torres-Anguiano, Alfredo Corona-Rivera, Christian Peña-Padilla, Lucina Bobadilla-Morales

Publikováno v: Gaceta Médica de México, Vol 158, Iss 4 (2022)

Introducción: Las alteraciones epigenéticas y genómicas de la región improntada 11p15.5 producen crecimiento excesivo o deficiente, que se manifiesta como síndrome de Beckwith-Wiedemann o síndrome de Silver-Russell, respectivamente. Objetivo: E

Externí odkaz: https://doaj.org/article/ea1a1616d60843078d577d510bd773fb

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Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Autor: Elizabeth, Acosta-Fernández, Jorge R, Corona-Rivera, Izabel M, Ríos-Flores, Elizabeth, Torres-Anguiano, Alfredo, Corona-Rivera, Christian, Peña-Padilla, Lucina, Bobadilla-Morales

Publikováno v: Gaceta de M�xico. 158

Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS), respectively.To evaluate the methylation-specific multiplex l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daab1be99ee9aa1feb8bee80c864ea25
https://doi.org/10.24875/gmm.m22000673

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[Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay]

Autor: Izabel Maryalexandra, Rios-Flores, Lucina, Bobadilla-Morales, Christian, Peña Padilla, Alfredo, Corona-Rivera, Elizabeth, Acosta-Fernández, Jennifer, Santana-Hernández, Sinhue Alejandro, Brukman-Jiménez, Jorge Román, Corona Rivera

Publikováno v: Revista medica del Instituto Mexicano del Seguro Social. 59(2)

Prader Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders caused by deletions or methylation defects, making a loss of expression of imprinted genes located in the 15q11-q13 region, and these can be assessed by different

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6f35fe02bfb242f411305ae0d9c12c21
https://pubmed.ncbi.nlm.nih.gov/34232598

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Compound heterozygous mutations in theIFT140gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

Autor: Gerónimo Tavares-Macías, Roberto Mendoza-Londono, Elizabeth Acosta‐Fernández, Gladys Razo‐Jiménez, Susan Walker, Christian Peña-Padilla, Jorge Román Corona-Rivera, Stephen W. Scherer, Alfredo Corona-Rivera, Christian R. Marshall, Lucina Bobadilla-Morales

Publikováno v: Clinical Genetics. 91:640-646

〈 We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6db65b5b6b4ab99fec97383347bbfaaa
https://doi.org/10.1111/cge.12924

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