Search Results - "Constanza García-Delgado"

Out-of-pocket expenditures and care time for children with Down Syndrome: A single-hospital study in Mexico City by Martínez-Valverde, Silvia, Salinas-Escudero, Guillermo, García-Delgado, Constanza, Garduño-Espinosa, Juan, Morán-Barroso, Verónica F, Granados-García, Víctor, Tiro-Sánchez, Ma Teresa, Toledano-Toledano, Filiberto, Aldaz-Rodríguez, Ma Vanessa

“…To examine the burden of out-of-pocket household expenditures and time spent on care by families responsible for children with Down Syndrome (DS). A…”
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Congenital hearing loss: a literature review of the genetic etiology in a Mexican population by Carlos De la Torre-González, Dina Villanueva-García, Constanza García-Delgado, Salvador Castillo-Castillo, Marisol Huante-Guido, Josefina Chichitz-Madrigal, María E. Juárez-Torres, Ana L. Sánchez-Sandoval, Eira V. Barrón-Palma, Verónica F. Morán-Barroso

“…Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic…”
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Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population by Cerón-Rodríguez, Magdalena, Vázquez-Martínez, Edgar Ricardo, García-Delgado, Constanza, Ortega-Vázquez, Alberto, Valencia-Mayoral, Pedro, Ramírez-Devars, Lyuva, Arias-Villegas, Christian, Monroy-Muñoz, Irma Eloísa, López, Marisol, Cervantes, Alicia, Cerbón, Marco, Morán-Barroso, Verónica Fabiola

“…AbstractIntroduction and ObjectivesNiemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000…”
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Congenital hypertrichosis universalis in Mexican female twins by Cervantes, Alicia, García‐Delgado, Constanza, Fernández‐Ramírez, Fernando, Valencia‐Herrera, Adriana, Kofman, Susana, Morán‐Barroso, Verónica

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Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature by Pastrana‐Ayala, Rodrigo, Peña‐Castro, Gretty L., Valencia‐Herrera, Adriana M., Mena‐Cedillos, Carlos A., Toussaint‐Caire, Sonia, Akaki‐Carreño, Yumiko I., García‐Delgado, Constanza, Morán‐Barroso, Veronica F., Toledo‐Bahena, Mirna

“…Introduction Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin…”
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Cytogenetic Profile in 1,921 Cases of Trisomy 21 Syndrome by Flores-Ramírez, Francisco, Palacios-Guerrero, Claudia, García-Delgado, Constanza, Morales-Jiménez, Ariadna Berenice, Arias-Villegas, Christian Martín, Cervantes, Alicia, Morán-Barroso, Verónica Fabiola

“…Background and Aims Trisomy 21 is the most frequent genetic cause of intellectual disability. It is caused by different cytogenetic aberrations: free trisomy,…”
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Silver–Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient by Paz-Ramírez, Monserrat, Muñoz-Martínez, Linda B., Morales-Jiménez, Ariadna B., Morán-Barroso, Verónica F., García-Delgado, Constanza, Azotla-Vilchis, Cuauhtli N., Márquez-Quiroz, Luz C., Astiazarán, Mirena C.

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Monosomy 9p24 in two non-related patients as result of a translocation (2;9) by León-Carlos, Nayla Y, García-Delgado, Constanza, Morales-Jiménez, Ariadna B, Serrano-Bello, Carlos, Cervantes, Alicia, Morán Barroso, Verónica F

“…In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the…”
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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 by Gómez-Laguna, Laura, Martínez-Herrera, Alejandro, Reyes-de la Rosa, Alejandra Del Pilar, García-Delgado, Constanza, Nieto-Martínez, Karem, Fernández-Ramírez, Fernando, Valderrama-Atayupanqui, Tania Yanet, Morales-Jiménez, Ariadna Berenice, Villa-Morales, Judith, Kofman, Susana, Cervantes, Alicia, Morán-Barroso, Verónica Fabiola

“…The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most…”
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High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia by García-Delgado, Constanza, Noriega-Juárez, Miguel, Cervantes, Alicia, Abad-Flores, José, Toledo-Bahena, Mirna, Valencia-Herrera, Adriana, Mena-Cedillos, Carlos, Villaseñor-Domínguez, América, Sánchez-Boiso, Adriana, Akaki-Carreño, Yumiko, Río-Navarro, Blanca, Aguirre-Hernández, Jesús, López-López, Marisol, Cerbón, Marco, Morán-Barroso, Verónica, Monroy-Jaramillo, Nancy

“…X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by EDA pathogenic variants. Female carriers show several clinical manifestations in variable…”
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Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease by Márquez-Ávila, Candy Sue, Vizcaíno-Alarcón, Alfredo, García-Delgado, Constanza, Núñez-Martínez, Paulina María, Flores-Ramírez, Francisco, Reyes-de la Rosa, Alejandra del Pilar, Mendelsberg-Fishbein, Paola, Ibarra-Grajeda, Diana, Medina-Bravo, Patricia, Balderrábano-Saucedo, Norma, Esteva-Solsona, Salvador, Márquez-Quiróz, Luz del Carmen, Flores-Cuevas, Arturo, Sánchez-Urbina, Rocío, Morales-Jiménez, Ariadna Berenice, Garibay-Nieto, Nayely, Del Bosque-Garza, Jesús, Pietropaolo-Cienfuegos, Dino, Gutiérrez-Camacho, Claudia, García-Morales, Leticia, Morán-Barroso, Verónica Fabiola

“…Abstract Introduction Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is…”
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Pallister-Killian syndrome in a Mexican mestizo patient. Case report by Mendelsberg-Fishbein, Paola, García-Delgado, Constanza, Muñoz-Martínez, Linda B, Robledo-Cayetano, Maura, Mejía-Marín, Leonardo J, Martínez-Barrera, Luis E, Cerrillo-Hinojosa, Mabel, Moran-Barroso, Verónica F

“…Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart…”
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Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study by Chico-Ponce de León, Fernando, Gordillo-Domínguez, Luis F., González-Carranza, Vicente, Torres-García, Samuel, García-Delgado, Constanza, Sánchez-Boiso, Adriana, Arenas-Huertero, Francisco, Perezpeña-Diazconti, Mario, Eguía-Aguilar, Pilar, Baqueiro-Hernández, César, Buenrostro-Márquez, Guillermo, Martínez-Rodríguez, Sonia, Dhellemmes, Patrick, Castro-Sierra, Eduardo

“…Purpose A 10-month-old girl with a Brachmann-Cornelia de Lange syndrome and a choroid plexus papilloma of the brain was studied at the Hospital Infantil de…”
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A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome by Morán-Barroso, V. F., Valencia-Mayoral, Pedro, Vázquez-Martínez, Edgar Ricardo, García-Delgado, C., Varela-Fascinetto, Gustavo, Reyes-de la Rosa, Alejandra del Pilar, Cerbón, Marco

“…Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis,…”
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Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes by Cervantes, Alicia, García-Delgado, Constanza, Fernández-Ramírez, Fernando, Galaz-Montoya, Carolina, Morales-Jiménez, Ariadna Berenice, Nieto-Martínez, Karem, Gómez-Laguna, Laura, Villa-Morales, Judith, Quintana-Palma, Mónica, Berúmen, Jaime, Kofman, Susana, Morán-Barroso, Verónica F

“…Trisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is…”
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Caudal duplication with multicystic dysplastic kidney: a case report by García-Delgado, Constanza, Mendelsberg-Fishbein, Paola, González-Ledón, Fernando, Moreno-Salgado, Rodrigo, Blanco-Aguirre, María E., Morán-Barroso, Verónica F.

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Síndrome de Pallister-Killian en una paciente mestiza mexicana: Reporte de caso by Mendelsberg-Fishbein, Paola, García-Delgado, Constanza, Muñoz-Martínez, Linda B, Robledo-Cayetano, Maura, Mejía-Marín, Leonardo J, Martínez-Barrera, Luis E, Cerrillo-Hinojosa, Mabel, Moran-Barroso, Verónica F

“…El síndrome de Pallister-Killian es una entidad poco frecuente causada por tetrasomía 12p en mosaico. Presenta facies tosca, alopecia frontotemporal, frente…”
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Macroglosia congénita: características clínicas y estrategias de tratamiento en la edad pediátrica by Paulina María Núñez-Martínez, Constanza García-Delgado, Verónica Fabiola Morán-Barroso, Luis Jasso-Gutiérrez

“…La macroglosia congénita es una condición que se caracteriza por una lengua que en posición de reposo protruye más allá del borde alveolar; se ha clasificado…”
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Perfil clínico de una cohorte de pacientes con síndrome de Silver-Russell atendidos en el Hospital Infantil de México Federico Gómez de 1998 a 2012 by Carolina Isabel Galaz-Montoya, Constanza García-Delgado, Alicia Cervantes-Peredo, Leticia García-Morales, Verónica Fabiola Morán-Barroso

“…Introducción: El síndrome de Silver-Russell presenta restricción del crecimiento intrauterino y posnatal, macrocefalia relativa y asimetría, entre otras…”
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Silver–Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient by Paz-Ramírez, Monserrat, Muñoz-Martínez, Linda B., Morales-Jiménez, Ariadna B., Morán-Barroso, Verónica F., García-Delgado, Constanza, Azotla-Vilchis, Cuauhtli N., Márquez-Quiroz, Luz C., Astiazarán, Mirena C.

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