Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss
Martínez-Saucedo, Mirna, Mirna, Martínez-Saucedo, Rivera-Vega, María del Refugio, María Del Refugio, Rivera-Vega, Gonzalez--Huerta Luz, María, María, Gonzalez-Huerta Luz, Urueta-Cuellar, Héctor, Héctor, Urueta-Cuellar, Toral-López, Jaime, Jaime, Toral-López, Berruecos-Villalobos, Pedro, Pedro, Berruecos-Villalobos, Cuevas-Covarrubias, Sergio, Sergio, Cuevas-Covarrubias
Published in International journal of pediatric otorhinolaryngology (01.12.2015)
Published in International journal of pediatric otorhinolaryngology (01.12.2015)
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Journal Article
New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia
Toral López, Jaime, Gómez Martinez, Sandra, Rivera Vega, María Del Refugio, Hernández-Zamora, Edgar, Cuevas Covarrubias, Sergio, Ibarra Castrejón, Belem Arely, González Huerta, Luz María
Published in Biology (Basel, Switzerland) (08.03.2024)
Published in Biology (Basel, Switzerland) (08.03.2024)
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Journal Article
Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy
Martin-de Saro, Monica, Compean, Zyndia, Aguilar, Karina, González-Huerta, Luz María, Plaza-Benhumea, Lautaro, Messina-Baas, Olga, Cuevas-Covarrubiass, Sergio Alberto
Published in Molecular syndromology (01.08.2021)
Published in Molecular syndromology (01.08.2021)
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Journal Article
ADRB1 and ADBR2 Gene Polymorphisms and the Ocular Hypotensive Response to Topical Betaxolol in Healthy Mexican Subjects
Messina Baas, Olga, Pacheco Cuellar, Guillermo, Toral-López, Jaime, Lara Huerta, Silvia Fanny, Gonzalez-Huerta, Luz María, Urueta-Cuellar, Héctor, Rivera-Vega, Ma Refugio, Babayan-Mena, Ignacio, Cuevas-Covarrubias, Sergio A.
Published in Current eye research (01.11.2014)
Published in Current eye research (01.11.2014)
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Journal Article
Particular distribution of the GJB2 / GJB6 gene mutations in Mexican population with hearing impairment
Loeza-Becerra, Francisco, Rivera-Vega, María del Refugio, Martínez-Saucedo, Mirna, Gonzalez-Huerta, Luz María, Urueta-Cuellar, Héctor, Berrruecos-Villalobos, Pedro, Cuevas-Covarrubias, Sergio
Published in International journal of pediatric otorhinolaryngology (01.07.2014)
Published in International journal of pediatric otorhinolaryngology (01.07.2014)
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Journal Article
Novel 10q21.1-q22.1 duplication in a boy with minor facial dysmorphism, mild intellectual disability, autism spectrum disorder -like phenotype, and short stature
Toral-Lopez, Jaime, Gonzalez-Huerta, Luz María
Published in Cytogenetic and genome research (20.09.2024)
Published in Cytogenetic and genome research (20.09.2024)
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Journal Article
Identification of Two Novel Mutations in TRPS1 Gene in Families With Tricho-Rhino-Phalangeal Type I Syndrome
Flores-Cuevas, Arturo, Mutchinick, Oswaldo, Morales-Suárez, Jose J., González-Huerta, Luz Maria, Cuevas-Covarrubias, Sergio A.
Published in Journal of investigative medicine (01.06.2012)
Published in Journal of investigative medicine (01.06.2012)
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Journal Article
Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report
Toral-Lopez, Jaime, Huerta, Luz María González, Messina-Baas, Olga, Cuevas-Covarrubias, Sergio A
Published in World journal of clinical cases (06.11.2020)
Published in World journal of clinical cases (06.11.2020)
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Journal Article
Complete monosomy mosaic of chromosome 21: Case report and review of literature
Toral-Lopez, Jaime, Gonzalez-Huerta, Luz Maria, Cuevas-Covarrubias, Sergio A.
Published in Gene (01.12.2012)
Published in Gene (01.12.2012)
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Journal Article
Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis
Singh, Ankur, Cuevas-Covarrubias, Sergio, Pradhan, Gaurav, Gautam, V. K., Messina-Baas, Olga, Gonzalez-Huerta, Luz Maria, Goyal, Manisha, Kapoor, Seema
Published in Indian journal of pediatrics (01.05.2015)
Published in Indian journal of pediatrics (01.05.2015)
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Journal Article
Familial Pycnodysostosis: Identification of a Novel Mutation in the CTSK Gene (Cathepsin K)
Toral-López, Jaime, Gonzalez-Huerta, Luz Maria, Sosa, Blanca, Orozco, Sócrates, González, Hugo Peláez, Cuevas-Covarrubias, Sergio A.
Published in Journal of investigative medicine (01.02.2011)
Published in Journal of investigative medicine (01.02.2011)
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Journal Article
Erratum to “Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss” International Journal of Pediatric Otorhinolaryngology, Volume 79, Issue 12, December 2015, Pages 2295–2299
Martínez-Saucedo, Mirna, Rivera-Vega, María del Refugio, Gonzalez-Huerta, Luz María, Urueta-Cuellar, Héctor, Toral-López, Jaime, Berruecos-Villalobos, Pedro, Cuevas-Covarrubias, Sergio
Published in International journal of pediatric otorhinolaryngology (01.04.2016)
Published in International journal of pediatric otorhinolaryngology (01.04.2016)
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Journal Article
Somatic and Germinal Mosaicism for the Steroid Sulfatase Gene Deletion in a Steroid Sulfatase Deficiency Carrier
Cuevas-Covarrubias, Sergio Alberto, Jiménez-Vaca, Ana Luisa, González-Huerta, Luz María, del Refugio Rivera-Vega, Maria, Kofman-Alfaro, Susana H., Valdes-Flores, Margarita, Maya-Nunez, Guadalupe
Published in Journal of investigative dermatology (01.10.2002)
Published in Journal of investigative dermatology (01.10.2002)
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Journal Article
New Genetic Variants of IRUNX2/I in Mexican Families Cause Cleidocranial Dysplasia
Toral López, Jaime, Gómez Ma, Rivera Vega, María del Refugio, Hernández-Zamora, Edgar, Cuevas Covarrubias, Sergio, Ibarra Castrejón, Belem Arely, González Huerta, Luz María
Published in Biology (Basel, Switzerland) (01.03.2024)
Published in Biology (Basel, Switzerland) (01.03.2024)
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Journal Article
Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia
Serrano-Ahumada, Ana Silvia, Cortes-González, Vianney, González-Huerta, Luz María, Cuevas, Sergio, Aguilar-Lozano, Luis, Villanueva-Mendoza, Cristina
Published in Cornea (01.02.2018)
Published in Cornea (01.02.2018)
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Journal Article
Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation
González-Huerta, Norma Celia, Valdés-Miranda, Juan Manuel, Pérez-Cabrera, Adrián, Pacheco-Cuellar, Guillermo, González-Huerta, Luz Maria, Cuevas-Covarrubias, Sergio Alberto
Published in The journal of maternal-fetal & neonatal medicine (01.07.2010)
Published in The journal of maternal-fetal & neonatal medicine (01.07.2010)
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Journal Article
Relevancia de la secuenciación de nueva generación en el diagnóstico de cáncer de mama y dos mutaciones descritas por primera vez en población mexicana
González-Huerta, Luz María, Hernández-Vázquez, Alfonso, Toral-López, Jaime, Rivera-Vega, María Del Refugio, Escobar-Gómez, Mario, Hernández-Zamora, Edgar
Published in Salud pública de México (10.03.2023)
Published in Salud pública de México (10.03.2023)
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