Search Results - "García‐Ortiz, José E."

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis by Juárez‐Osuna, Jesús A., Mendoza‐Ruvalcaba, Sandra C., Porras‐Dorantes, Angela, Da Silva‐José, Thiago D., García‐Ortiz, José E.

“…Background Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to…”
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Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q by Vásquez-Velásquez, Ana I, Rivera, Horacio, Castro, Ana G, Jaloma-Cruz, Ana R, Juárez, Clara I, Lara-Navarro, Irving J, Córdova-Fletes, Carlos, Mendoza- Pérez, Paul, García-Ortiz, José E

“…Abstract Objective: We report on two rare Xq rearrangements, namely a t(X;9)(q24;q12) found in a mildly-affected girl (Patient 1) and a rea(X)dup q concomitant…”
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Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel–Chen–Johnson syndrome) by Becerra-Solano, Luis E., Chacon, Liliana, Morales-Mata, Dinorah, Ramírez-Dueñas, Maria de Lourdes, García-Ortiz, José E.

“…Spondylospinal thoracic dysostosis can be considered a type of spondylocostal dysostosis because of the occurrence of vertebral defects (hemivertebrae and…”
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Análisis del ADN nuclear y mitocondrial libre de células circulantes en plasma de pacientes mexicanas con cáncer de mama by Rodríguez-Torres, Dalia E., Saucedo-Sariñana, Anilu M., Palacios-Ramírez, Alejandra, Godínez-Rodríguez, Miriam Y., Salas-González, Efraín, Alcaraz-Wong, Aldo A., García-Ortiz, José E., Rosales-Reynoso, Mónica A.

“…Antecedentes: La utilidad del ADN circulante libre (ADNcl), el ADN nuclear (ADNn) y mitocondrial (ADNmt) como posibles biomarcadores en cáncer aún sigue siendo…”
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Alopecia Areata. Current situation and perspectives by Juárez-Rendón, Karina J, Rivera Sánchez, Gildardo, Reyes-López, Miguel Á, García-Ortiz, José E, Bocanegra-García, Virgilio, Guardiola-Avila, Iliana, Altamirano-García, María L

“…Alopecia areata (AA) is a dermatological disease characterized by non-scarring hair loss of the scalp and/or body, with an unpredictable and variable evolution…”
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Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder by García-Ortiz, José E., Zarazúa-Niño, Ana I., Hernández-Orozco, Angélica A., Reyes-Oliva, Edwin A., Pérez-Ávila, Carlos E., Becerra-Solano, Luis E., Galán-Huerta, Kame A., Rivas-Estilla, Ana M., Córdova-Fletes, Carlos

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Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies by Córdova-Fletes, Carlos, Becerra-Solano, Luis E., Rangel-Sosa, Martha M., Rivas-Estilla, Ana María, Alberto Galán-Huerta, Kame, Ortiz-López, Rocío, Rojas-Martínez, Augusto, Juárez-Vázquez, Clara I., García-Ortiz, José E.

“…We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal…”
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Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6 by Becerra-Solano, Luis E., Chacón, Liliana, Morales-Mata, Dinorah, Zenteno, Juan C., Ramírez-Dueñas, Maria L., García-Ortiz, Jose E.

“…The association of anophthalmia, arrhinia, and hypogonadism constitutes the major clinical features for Bosma arrhinia microphthalmia syndrome. However, there…”
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome by Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E

“…Michael Talkowski, David FitzPatrick, Erica Davis and colleagues report rare inherited or de novo missense variants in SMCHD1 in arhinia patients. Some of the…”
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Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome by García-Ortiz, Jose E., Banda-Espinoza, Felipe, Zenteno, Juan C., Galván-Uriarte, Luz M., Ruiz-Flores, Pablo, García-Cruz, Diana

“…Split hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation that may be isolated or associated with other malformations. More than 50…”
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Jose Maria Cantu (1938-2007) by Garcia-Ortiz, Jose E.

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Alopecia areata: Actualidad y perspectivas by Juárez-Rendón, Karina J, Rivera Sánchez, Gildardo, Reyes-López, Miguel A, García-Ortiz, José E, Bocanegra-García, Virgilio, Guardiola-Avila, Iliana, Altamirano-García, María L

“…La alopecia areata es un padecimiento dermatológico caracterizado por la pérdida de pelo no cicatricial del cuero cabelludo y/o del cuerpo, con una evolución…”
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Hipertricosis cervical anterior: caso dínico by Orozco-Gutiérrez, Mario H, Sánchez-Corona, José, García-Ortiz, José E, Castañeda-Cisneros, Gema, Dávalos-Rodríguez, Nory O, Corona-Rivera, Jorge R, García-Cruz, Diana

“…La hipertricosis cervical anterior no sindrómica (OMIM N° 600457) es un desorden genético caracterizado por un parche de pelo a nivel de la prominencia…”
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Anterior cervical hypertrichosis: case report by Orozco-Gutiérrez, Mario H, Sánchez-Corona, José, García-Ortiz, José E, Castañeda-Cisneros, Gema, Dávalos-Rodríguez, Nory O, Corona-Rivera, Jorge R, García-Cruz, Diana

“…The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal…”
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