Publications by authors named "Esther Lieberman"

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Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.
Namibia Guadalupe Mendiola-Vidal, Cecilia Contreras-Cubas, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Ana Lucia Yañez-Felix, Esther Lieberman

Life (Basel)· November 2024

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Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
Paula Leal-Anaya, Tamara N Kimball, Ana Lucia Yanez-Felix, Moisés Ó Fiesco-Roa, Benilde García-de Teresa, Esther Lieberman

Front Genet· January 2024

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Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Esther Lieberman

Mol Cytogenet· January 2023

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Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.
Oscar F Chacón-Camacho, Acatzin Salgado-Medina, Nayeli Alcaraz-Lares, Daniel López-Moreno, Tania Barragán-Arévalo, Esther Lieberman

Gene· July 2019

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Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Natalia Quiroz-Casian, Oscar F Chacon-Camacho, Tania Barragan-Arevalo, Jessica Nava-Valdez, Esther Lieberman

Cornea· September 2018

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7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.
Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Esther Lieberman

Mol Cytogenet· November 2017

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Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.
Consuelo Salas-Labadía, Esther Lieberman, Roberto Cruz-Alcívar, Pilar Navarrete-Meneses, Samuel Gómez

Mol Cytogenet· October 2014

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Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.
Gloria Queipo, Juan C Zenteno, Rocío Peña, Karen Nieto, Alejandro Radillo, Esther Lieberman

Hum Genet· September 2002

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