Results 61 to 70 of about 3,495 (229)

Estudio Antropológico y Patológico de Cementerios Altomedievales en el País Vasco.Los casos del despoblado de Aistra y el Castillo de Treviño. [PDF]

, 2011
En el presente artículo se exponen los resultados obtenidos del análisis paleopatológico y antropológico de los restos óseos recuperados en dos aldeas alto-medievales alavesas.
Mendizabal Gorostizu-Orkaiztegi, Amaia
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Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

5to. Congreso Internacional de Ciencia, Tecnología e Innovación para la Sociedad. Memoria académica [PDF]

, 2019
El V Congreso Internacional de Ciencia, Tecnología e Innovación para la Sociedad, CITIS 2019, realizado del 6 al 8 de febrero de 2019 y organizado por la Universidad Politécnica Salesiana, ofreció a la comunidad académica nacional e internacional una ...
Acurio Vásconez, Ramiro Daniel, Acuña Coello, Fausto Vinicio, Aguilar Romero, Yasmany, Alvarado Torres, María Cristina, Alvarado, Gino, Alves Ribeiro, Víctor Henrique, Alviar Malabet, José Domingo, Ampuño Avilés, Gary, Barcia Ayala, Orlando Giovanni, Barcia Ayala, Orlando Giovanni, Barrera Cordero, David Sebastián, Barrios Puerto, David, Beltrán Dávalos, Andrés Agustín, Beltrán Dávalos, Andrés Agustín, Beltrán Sinchiguano, Elena del Rosario, Bermeo Naula, Andrea Karina, Bermeo Naula, Andrea Karina, Bustillos, Janio, Cabrera Ortiz, Jorge Jacinto, Cadena Calvachi, Daniela Verónica, Cahuasqui, Lorena, Calderón Freire, Edison, Calle, Carolina, Campos Sarmiento, Nataly, Carrera Martínez, Bryan Enrique, Castillo Pazmiño, Víctor, Castillo Velázquez, José Ignacio, Cañadas Salazar, Irma Lucia, Chiluisa Utreras, Viviana Pamela, Chuquin Balseca, Silvia Lorena, Chávez Córdova, Carlos Fernando, Coello, Mateo, Collaguazo, Leidy Andrina, Contreras Urgiles, Wilmer, Coronel Feijó, Manuel Alberto, Coyago Cruz, Elena del Rocío, Cárdenas Villacrés, David Humberto, Díaz Heredia, Yolanda Dolores, Escobar Silva, Nelly Jacqueline, Espadero Bermeo, Mónica, Espinoza Chico, Dennise Elizabeth, Fajardo Seminario, Jorge, Fernández Palomeque, Efrén, Fernández, Gissella, Gallón Londoño, Luciano, Godoy Ponce, Sofía Carolina, Godoy Ponce, Sofía Carolina, Gordillo, Fátima, Guachamín Ushiña, Aida Graciela, Gualoto Tipantasig, Paola Elizabeth, Gutiérrez Salazar, Patricia, Guzmán Escalante, John Gregory, Gárate Montalvo, Danilo Abelardo, Gómez Guerrero, Pablo Andrés, Haro Zúñiga, Julio Andrés, Herrera Carrión, Madison Eduardo, Herrera, Katherine, Hincapié, Roberto, Huerta, Mónica, Huertas Cardozo, José Ignacio, Huiracocha Vivar, Sandra, Idrovo Rabian, Juan Miguel, Jara Cobos, Nelson Gustavo, Landacay Jaramillo, Cristian Mauricio, Lasluisa Naranjo, Héctor Geovanny, Lema Sánchez, Lizbeth Carolina, Letamendi, Fernando, León Chimbolema, José Gerardo, Lima Juma, Diego Fernando, Lozada-Venezuela, Mariela Cerrada, Luna Romero, Santiago Felipe, Macías López, Elsa, Maldonado Rodríguez, María Elena, Masache Almeida, Evelin, Matailo Vélez, Jean Carlos, Meneses Morillo, Johana, Mesa Quezada, Eliana, Miguitama Gonza, José Ricardo, Miranda Orellana, Marcos Enrique, Miranda Ramos, Mónica, Molina Patiño, Belén Anais, Mosquera Tayupanta, Tatiana, Márquez Villalba, Edgar, Méndez Silva, Gabriela Inés, Méndez Silva, Gabriela Inés, Nieto Londoño, Cesar, Nieto Londoño, César, Obando Herrera, Fabio Eduardo, Obando, Carolina, Ojeda, Isaac Leonardo, Orellana Ordóñez, Mónica Auxiliadora, Ortega Espín, Andrés, Pachacama Durán, Edwin Paul, Padilla Peralta, Jenny, Paltán Zhingre, César, Pantoja Vaca, Jefferson Wladimir, Parra Rosero, Pablo, Parra Vega, Vicente, Pazmiño, Alexandra Karina, Pazmiño, Marcela, Peñaranda Arcentales, César Augusto, Pilco Carrasco, Dennis Javier, Pillajo Angos, Carlos, Pillajo Angos, Carlos, Pillajo Angos, Carlos, Pinos Chuya, Brian Josué, Pinos Pinos, Esteban Fabricio, Ponce Ochoa, Katherine Elizabeth, Portilla, Fredi, Pugo Calle, Kevin Jacinto, Páez Fiallos, Ana Lucía, Pérez Gosende, Pablo, Quijije Mejía, Pablo Augusto, Quinsasamin Pillalaza, Santiago David, Quitiaquez Sarzosa, William, Ramírez Loaiza, Josué, Reinoso Avecillas, Fran Zhovani, Reynoso Meza, Gilberto, Rivera Campoverde, Néstor Diego, Rivera Campoverde, Néstor Diego, Robles Bykbaev, Vladimir, Robles Bykbaev, Vladimir Espartaco, Rockwood, Robert, Sablón Cossío, Neyfe, Samaniego, Hernán, Sandoval Moreira, María Isabel, Santillán Carranza, Holger, Sañaicela Cueva, Jorge Ariel, Serpa Andrade, Luis Javier, Simba, Erika, Simbaña Tasintuña, Jessica Geovanna, Solís Delgado, Jaime Edison, Soto Pérez, Antonio Alexandre, Sumba Nacipucha, Nicolás, Suárez Sarmiento, Álvaro, Sánchez Robalino, Cristofer Wilson, Sánchez, Cristian, Tenorio Moya, Estefany Michelle, Toapanta Ramos, Luis Fernando, Torres Gallegos, Sandino, Uguña, Víctor Hugo, Ulloa Vaca, Carlos Andrés, Ushiña Simbaña, Christian Fernando, Vaca Suquillo, Ivonne, Valdés Silverio, Luis Alberto, Valladares López, Kevin Ismael, Velarde Garcés, Esteban Eduardo, Villacís Tuza, Michael Eduardo, Viloria Ávila, Tony Jesús, Viloria Ávila, Tony Jesús, Vintimilla León, Gustavo Fernando, Vintimilla Sarmiento, Blanca Cumandá, Vivar Bravo, Fernando Andrés, Vizhco Sigua, Christian Andrés, Vázquez Martínez, Andrea, Xavier Ramírez, Lenin, Yaulema Garcés, Fausto Manolo, Yumiseba Gobaya, Adelaida Denisse, Zapata, Diego, Zea Cobos, Angélica Geovanna, Zhagñay Narváez, Betty, Zhindón, Jorge, Zúñiga Pacheco, María Marlene, Álvarez Mendoza, César Iván, Álvarez Triana, Carlos Josué   +164 more
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Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Marcapassos Dupla-Câmara com Resposta de Freqüência Melhoram a Qualidade de Vida dos Pacientes? [PDF]

, 2002
O objetivo principal deste estudo foi avaliar a qualidade de vida de pacientes portadores de marcapassos cardíacos dupla-câmara com sensor acelerômetro, em comparaçao com os duplacâmaras convencionais, cujo sensor é o próprio nó sinusal do paciente ...
José Rufino Costa dos SANTOS
core   +4 more sources

Retraso Diagnóstico en Oncología Pediátrica [PDF]

, 2007
Fueron revisados retrospectivamente las historias clínicas de 550 pacientes menores de 19 años de edad con diagnóstico citohistológico de malignidad, admitidos entre 01/01/1980 a 31/12/2000.
Armendariz, Federico, Astudillo, Luciano, Lancioni, Eduardo, Pardini, Gabriela, Pollono, Agustina, Pollono, Daniel G., Tomarchio, Silvia   +6 more
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Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Season, Age and Sex-Related Differences in Incidental Magnetic Resonance Imaging Findings of Paranasal Sinuses in Adults

Turkish Archives of Otorhinolaryngology, 2019
Objective: The purpose of the current study was to investigate the prevalence of incidental paranasal sinus abnormalities on brain magnetic resonance imaging (MRI).
Meltem Özdemir, Rasime Pelin Kavak
doaj   +1 more source