Search Results - "Llamos Paneque, Arianne"

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador by Pozo-Palacios, Juan, Llamos-Paneque, Arianne, Rivas, Christian, Onofre, Emily, López-Cáceres, Andrea, Villareal, Jenniffer

“…Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic…”
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Rubinstein–Taybi syndrome in diverse populations by Tekendo‐Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho‐Ming, Lo, Ivan F. M., Hon‐Yin Chung, Brian, Fung, Jasmine L. F., Moretti‐Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz‐Esquivel, Stephanie, Saborio‐Rocafort, Manuel, Badilla‐Porras, Ramses, Penon Portmann, Monica, Jones, Kelly L., Abdul‐Rahman, Omar A., Uwineza, Annette, Prijoles, Eloise J., Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D., Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz‐Kuan, Alicia, Thong, Meow‐Keong, Obregon, María Gabriela, Mutesa, Leon, Dissanayake, Vajira H. W., El Ruby, Mona O., Brunetti‐Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E., Muenke, Maximilian, Kruszka, Paul

“…Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss‐of‐function variants in CREBBP or EP300. Affected individuals present with…”
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Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology by Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome by Klingbeil, Kyle D, Greenland, Christopher M, Arslan, Selcuk, Llamos Paneque, Arianne, Gurkan, Hakan, Demir Ulusal, Selma, Maroofian, Reza, Carrera-Gonzalez, Andrea, Montufar-Armendariz, Stefany, Paredes, Rosario, Elcioglu, Nursel, Menendez, Ibis, Behnam, Mahdiyeh, Foster, Joseph, Guo, Shengru, Escarfuller, Sebastian, Cengiz, Filiz Basak, Duman, Duygu, Bademci, Guney, Tekin, Mustafa

“…Abstract Introduction Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing…”
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Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms by Paz‐y‐Miño, César, Yumiceba, Verónica, Moreta, Germania, Paredes, Rosario, Ruiz, Mónica, Ocampo, Ligia, Llamos Paneque, Arianne, Ochoa Pérez, Catalina, Ruiz‐Cabezas, Juan Carlos, Álvarez Vidal, Jenny, Jiménez Torres, Idarmis, Vargas‐Vera, Ramón, Cruz, Fernando, Guapi N, Víctor Hugo, Montalván, Martha, Meneses Álvarez, Sara, Garzón Castro, Maribel, Lamar Segura, Elizabeth, Recalde Báez, María Augusta, Naranjo, María Elena, Tambaco Jijón, Nina, Sinche, María, Licuy, Pedro, Burgos, Ramiro, Porras‐Borja, Fabián, Echeverría‐Garcés, Gabriela, Pérez‐Villa, Andy, Armendáriz‐Castillo, Isaac, García‐Cárdenas, Jennyfer M., Guerrero, Santiago, Guevara‐Ramírez, Patricia, López‐Cortés, Andrés, Zambrano, Ana Karina, Leone, Paola E.

“…Background Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among…”
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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology by Elouej, Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

“…Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction…”
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Turner syndrome associated with Down syndrome: about a case by Llamos-Paneque, Arianne, Pozo-Palacios, Juan C., Sancan-Jalca, Byron, Garzón-Castro, Maribel, Lamar-Segura, Elizabeth, Óacato-Pachacama, Karen L., Tiehr, Thomas L.

“…Abstract The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the…”
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Análisis de las malformaciones congénitas detectadas por el programa alfafetoproteína-ultrasonido genético by Llamos Paneque, Aicha Julia, Llamos Paneque, Arianne, Martínez de Santelises Cuervo, Alicia, Powell Castro, Zaymar L., Pérez Olivera, Eldys

“…La alfafetoproteína es una glicoproteína específica del plasma fetal, cuya determinación en suero materno se realiza entre las 15 y 19 semanas de gestación…”
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Variantes citogenéticas en pacientes con síndrome de Turner diagnosticadas en un hospital de tercer nivel de atención en Ecuador by Llamos-Paneque, Arianne, Óacato, Karen L., Lamar-Segura, Elizabeth, Garzón-Castro, Maribel, Recalde-Báez, María A., Román-Naranjo, María E., Vásquez, Gabriel

“…Resumen Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además de…”
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Premisas éticas en el diagnóstico prenatal de defectos congénitos en Cuba by Rojas Betancourt, Iris Andrea, Llamos Paneque, Arianne, Marcheco Teruel, Beatriz

“…El propósito de este trabajo es presentar una propuesta de premisas éticas para la práctica del diagnóstico prenatal de defectos congénitos. Se realizó un…”
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Análisis de las malformaciones congénitas detectadas por el programa alfafetoproteína-ultrasonido genético Analysis of the congenital malformations detected by the alpha-fetoprotein-genetic ultrasound program by Aicha Julia Llamos Paneque, Arianne Llamos Paneque, Alicia Martínez de Santelises Cuervo, Zaymar L. Powell Castro, Eldys Pérez Olivera

“…La alfafetoproteína es una glicoproteína específica del plasma fetal, cuya determinación en suero materno se realiza entre las 15 y 19 semanas de gestación…”
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