Publications by authors named "Susana Kofman"

12Publications

Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.

Authors:
Laura Gómez-Laguna Alejandro Martínez-Herrera Alejandra Del Pilar Reyes-de la Rosa Constanza García-Delgado Karem Nieto-Martínez Fernando Fernández-Ramírez Tania Yanet Valderrama-Atayupanqui Ariadna Berenice Morales-Jiménez Judith Villa-Morales Susana Kofman Alicia Cervantes Verónica Fabiola Morán-Barroso

Ophthalmic Genet 2018 Jan-Feb;39(1):56-62. Epub 2017 Sep 18.

c Department of Genetics , Hospital Infantil de México Federico Gómez , Mexico City , Mexico.

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March 2018

A Boolean network model of human gonadal sex determination.

Authors:
Osiris Ríos Sara Frias Alfredo Rodríguez Susana Kofman Horacio Merchant Leda Torres Luis Mendoza

Theor Biol Med Model 2015 Nov 16;12:26. Epub 2015 Nov 16.

Instituto de Investigaciones Biomédicas, UNAM, Mexico City, 04510, México.

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November 2015

Congenital hypertrichosis universalis in Mexican female twins.

Authors:
Alicia Cervantes Constanza García-Delgado Fernando Fernández-Ramírez Adriana Valencia-Herrera Susana Kofman Verónica Morán-Barroso

Int J Dermatol 2016 Jan 30;55(1):e29-31. Epub 2015 Oct 30.

Department of Genetics, Hospital General de México Dr. Eduardo Liceaga, Mexico City, Mexico.

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January 2016

Characterization of a group unrelated patients with arthrogryposis multiplex congenita.

Authors:
Margarita Valdés-Flores Leonora Casas-Avila Edgar Hernández-Zamora Susana Kofman Alberto Hidalgo-Bravo

J Pediatr (Rio J) 2016 Jan-Feb;92(1):58-64. Epub 2015 Oct 9.

Genetics Department, Instituto Nacional de Rehabilitación (INR), Mexico City, Mexico.

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July 2016

CDKN3 mRNA as a Biomarker for Survival and Therapeutic Target in Cervical Cancer.

Authors:
Eira Valeria Barrón Edgar Roman-Bassaure Ana Laura Sánchez-Sandoval Ana María Espinosa Mariano Guardado-Estrada Ingrid Medina Eligia Juárez Ana Alfaro Miriam Bermúdez Rubén Zamora Carlos García-Ruiz Juan Carlos Gomora Susana Kofman E Martha Pérez-Armendariz Jaime Berumen

PLoS One 2015 15;10(9):e0137397. Epub 2015 Sep 15.

Unidad de Medicina Genómica, Facultad de Medicina, Universidad Nacional Autónoma de México/ Hospital General de México, México City, México; Departamento de Medicina Experimental, Facultad de Medicina, Universidad Nacional Autónoma de México, México City, México.

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May 2016

19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype.

Authors:
Carlos Venegas-Vega Karem Nieto-Martínez Alejandro Martínez-Herrera Laura Gómez-Laguna Jaime Berumen Alicia Cervantes Susana Kofman Fernando Fernández-Ramírez

Mol Cytogenet 2014 12;7(1):61. Epub 2014 Dec 12.

Unidad de Genética, Hospital General de México, Dr. Balmis 148, México, D.F 06726 México.

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December 2014

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.

Authors:
Alicia Cervantes Constanza García-Delgado Fernando Fernández-Ramírez Carolina Galaz-Montoya Ariadna Berenice Morales-Jiménez Karem Nieto-Martínez Laura Gómez-Laguna Judith Villa-Morales Mónica Quintana-Palma Jaime Berúmen Susana Kofman Verónica F Morán-Barroso

BMC Med Genomics 2014 Sep 15;7:55. Epub 2014 Sep 15.

Departamento de Genética, Hospital Infantil de México Federico Gómez, Calle Dr, Márquez 162, Col, Doctores, Del, Cuauhtémoc, 06720 México, D,F,, México.

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September 2014

Impact of gene dosage on gene expression, biological processes and survival in cervical cancer: a genome-wide follow-up study.

Authors:
Ingrid Medina-Martinez Valeria Barrón Edgar Roman-Bassaure Eligia Juárez-Torres Mariano Guardado-Estrada Ana María Espinosa Miriam Bermudez Fernando Fernández Carlos Venegas-Vega Lorena Orozco Edgar Zenteno Susana Kofman Jaime Berumen

PLoS One 2014 30;9(5):e97842. Epub 2014 May 30.

Unidad de Medicina Genómica, Facultad de Medicina, Universidad Nacional Autónoma de México/Hospital General de México, México, D.F. México; Departamento de Medicina Experimental, Facultad de Medicina, Universidad Nacional Autónoma de México, México, D.F. México.

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January 2015

Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.

Authors:
Carlos A Venegas-Vega Fernando Fernández-Ramírez Luis M Zepeda Karem Nieto-Martínez Laura Gómez-Laguna Luz M Garduño-Zarazúa Jaime Berumen Susana Kofman Alicia Cervantes

Biomed Res Int 2013 3;2013:209204. Epub 2013 Feb 3.

Servicio de Genética, Hospital General de México, Dr. Balmis No. 148, Colonia Doctores, 06726 México, DF, Mexico.

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September 2013

Mitosis is a source of potential markers for screening and survival and therapeutic targets in cervical cancer.

Authors:
Ana María Espinosa Ana Alfaro Edgar Roman-Basaure Mariano Guardado-Estrada Ícela Palma Cyntia Serralde Ingrid Medina Eligia Juárez Miriam Bermúdez Edna Márquez Manuel Borges-Ibáñez Sergio Muñoz-Cortez Avissai Alcántara-Vázquez Patricia Alonso José Curiel-Valdez Susana Kofman Nicolas Villegas Jaime Berumen

PLoS One 2013 6;8(2):e55975. Epub 2013 Feb 6.

Departamento de Medicina Experimental, Facultad de Medicina, Universidad Nacional Autónoma de México, México City, Mexico.

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August 2013

Amplified genes may be overexpressed, unchanged, or downregulated in cervical cancer cell lines.

Authors:
Oscar Vazquez-Mena Ingrid Medina-Martinez Eligia Juárez-Torres Valeria Barrón Ana Espinosa Nicolás Villegas-Sepulveda Laura Gómez-Laguna Karem Nieto-Martínez Lorena Orozco Edgar Roman-Basaure Sergio Muñoz Cortez Manuel Borges Ibañez Carlos Venegas-Vega Mariano Guardado-Estrada Angélica Rangel-López Susana Kofman Jaime Berumen

PLoS One 2012 7;7(3):e32667. Epub 2012 Mar 7.

Unidad de Medicina Genómica, Facultad de Medicina, Hospital General de México, Universidad Nacional Autónoma de México, México, Distrito Federal, México.

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August 2012

The Amerindian mtDNA haplogroup B2 enhances the risk of HPV for cervical cancer: de-regulation of mitochondrial genes may be involved.

Authors:
Mariano Guardado-Estrada Ingrid Medina-Martínez Eligia Juárez-Torres Edgar Roman-Bassaure Luis Macías Ana Alfaro Avissai Alcántara-Vázquez Patricia Alonso Guillermo Gomez Fernando Cruz-Talonia Luis Serna Sergio Muñoz-Cortez Manuel Borges-Ibañez Ana Espinosa Susana Kofman Jaime Berumen

J Hum Genet 2012 Apr 23;57(4):269-76. Epub 2012 Feb 23.

Unidad de Medicina Genómica, Hospital General de México, Universidad Nacional Autónoma de México, Mexico City, Mexico.

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April 2012