Lymphomatoid granulomatosis in a patient with DOCK8 deficiency
Liquidano‐Perez, Eduardo, Alva‐Chaire, Adriana del Carmen, Yamazaki‐Nakashimada, Marco Antonio, Pesantez Abril, Ángela Andrea, Solorzano Morales, Sara Alejandra, Ramírez Ristori, Alfonso G., Barragán Arévalo, Tania, Gonzalez‐Serrano, María Edith, Scheffler‐Mendoza, Selma C., Rodríguez‐Jurado, Rodolfo
Published in Pediatric allergy and immunology (01.06.2022)
Published in Pediatric allergy and immunology (01.06.2022)
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Inmunodeficiencia combinada debida a deficiencia de DOCK8. Lo que sabemos hasta ahora
Liquidano-Pérez, Eduardo, Maza-Ramos, Gibert, Yamazaki-Nakashimada, Marco, Barragán-Arévalo, Tania, Lugo-Reyes, Saúl Oswaldo, Scheffler-Mendoza, Selma C., Espinosa-Padilla, Sara Elva, González-Serrano, María Edith
Published in Revista alergia Mexico (Tecamachalco, Pueblo, Mexico : 1993) (31.01.2023)
Published in Revista alergia Mexico (Tecamachalco, Pueblo, Mexico : 1993) (31.01.2023)
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Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency
Liquidano‐Perez, Eduardo, Maza‐Ramos, Gibert, Perez Arias, Bethy Alexandra, Lugo Reyes, Saul Oswaldo, Barragan Arevalo, Tania, Solorzano‐Morales, Sara Alejandra, Venegas Montoya, Edna, Staines‐Boone, Aidé Tamara, Guzmán Cotaya, Rogelio, Okada, Satoshi, Picard, Capucine, Patin, Etienne, Ramirez‐Uribe, Nideshda, Bustamante‐Ogando, Juan Carlos, Scheffler‐Mendoza, Selma Cecilia, Yamazaki‐Nakashimada, Marco Antonio, Saez‐de‐Ocariz, Marimar, Espinosa Padilla, Sara Elva, Gonzalez‐Serrano, Maria Edith
Published in Pediatric allergy and immunology (01.02.2024)
Published in Pediatric allergy and immunology (01.02.2024)
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Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing
Matías-Pérez, Diana, García-Montaño, Leopoldo A, Cruz-Aguilar, Marisa, García-Montalvo, Iván A, Nava-Valdéz, Jessica, Barragán-Arevalo, Tania, Villanueva-Mendoza, Cristina, Villarroel, Camilo E, Guadarrama-Vallejo, Clavel, la Cruz, Rocío Villafuerte-de, Chacón-Camacho, Oscar, Zenteno, Juan C
Published in Journal of human genetics (01.11.2018)
Published in Journal of human genetics (01.11.2018)
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Combined immunodeficiency due to DOCK8 deficiency. State of the art
Liquidano-Pérez, Eduardo, Maza-Ramos, Gibert, Yamazaki-Nakashimada, Marco Antonio, Barragán-Arévalo, Tania, Lugo-Reyes, Saúl Oswaldo, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara Elva, González-Serrano, María Edith
Published in Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) (01.07.2022)
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Published in Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) (01.07.2022)
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Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome
Ruiz-Chavolla, Diego, Barragán-Arévalo, Tania, Cortes-Muñoz, Daniel, Sánchez-Ruiz, Jhoana, Zenteno, Juan Carlos, Ledesma-Gil, Gerardo
Published in Ophthalmic genetics (03.05.2024)
Published in Ophthalmic genetics (03.05.2024)
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Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis
Villarroel, Camilo E., Zenteno, Juan C., Barragán-Arévalo, Tania, Leal-Anaya, Paula, Pérez-Muñoz, Estela, Frías-Soria, Christian L., López-Corella, Eduardo, Yokoyama, Emiy
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.07.2024)
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.07.2024)
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Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy
Leal-Rodríguez, Ricardo, Barragán-Arévalo, Tania, Pérez-Torres, Armando, Giraldo-Gómez, David M, Zenteno, Juan Carlos
Published in Clinical dysmorphology (01.04.2023)
Published in Clinical dysmorphology (01.04.2023)
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Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome
Chacon-Camacho, Oscar F., Barragán-Arévalo, Tania, Villarroel, Camilo E., Almanza-Monterrubio, Mónica, Zenteno, Juan Carlos
Published in European journal of medical genetics (01.05.2020)
Published in European journal of medical genetics (01.05.2020)
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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
Chacón-Camacho, Oscar F., Salgado-Medina, Acatzin, Alcaraz-Lares, Nayeli, López-Moreno, Daniel, Barragán-Arévalo, Tania, Nava-Castañeda, Angel, Rodríguez-Uribe, Genaro, Lieberman, Esther, Rodríguez-Cabrera, Lourdes, González-Del Angel, Ariadna, Borbolla, Ana María, Fernández-Hernández, Liliana, Graue-Hernández, Enrique O., Zenteno, Juan Carlos
Published in Gene (20.07.2019)
Published in Gene (20.07.2019)
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First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations
Corona-Rivera, Jorge Román, Zenteno, Juan Carlos, López-Pérez, Leopoldo Gildardo, Yokoyama-Rebollar, Emiy, Villarroel, Camilo E., Barragán-Arévalo, Tania, Montes-Almanza, Luis Ángel, Zepeda-Romero, Luz Consuelo, Morales-Domínguez, Guadalupe Elena, Peña-Padilla, Christian, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo
Published in Molecular syndromology (01.04.2023)
Published in Molecular syndromology (01.04.2023)
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First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations
Corona-Rivera, Jorge Román, Zenteno, Juan Carlos, López-Pérez, Leopoldo Gildardo, Yokoyama-Rebollar, Emiy, Villarroel, Camilo E, Barragán-Arévalo, Tania, Montes-Almanza, Luis Ángel, Zepeda-Romero, Luz Consuelo, Morales-Domínguez, Guadalupe Elena, Peña-Padilla, Christian, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo
Published in Molecular syndromology (01.04.2023)
Published in Molecular syndromology (01.04.2023)
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Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature
Quiroz-Casian, Natalia, Chacon-Camacho, Oscar F, Barragan-Arevalo, Tania, Nava-Valdez, Jessica, Lieberman, Esther, Salgado-Medina, Acatzin, Navas, Alejandro, Graue-Hernandez, Enrique O, Zenteno, Juan C
Published in Cornea (01.09.2018)
Published in Cornea (01.09.2018)
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