Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Carmen Palma"'
Autor:
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude, Aránzazu Díaz de Bustamante, Rebeca Villares, Carmen Palma Milla, Beatriz Puisac, Antonio Musio, Feliciano J. Ramos, Juan Pié
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow
Externí odkaz:
https://doaj.org/article/9d4e6302de974b37b68d6ed677076a23
Autor:
Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, Ana Rosa Arteche-Lopez, Sara Llamas-Velasco, Carmen Palma Milla, Jose Miguel Lezana Rosales, Irene Gomez-Manjon, Aurelio Hernandez-Lain, Justino Jimenez Almonacid, Belén Gil-Fournier, Soraya Ramiro-León, Marta González-Sánchez, Alejandro Octavio Herrero-San Martín, David Andrés Pérez-Martínez, Estrella Gómez-Tortosa, Eva Carro, Fernando Bartolomé, Maria Jose Gomez-Rodriguez, María Teresa Sanchez-Calvin, Alberto Villarejo-Galende, Marta Moreno-Garcia
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4230 (2022)
In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant demen
Externí odkaz:
https://doaj.org/article/fc0b0cbd907349918ab1ecb68b3326b7
Autor:
Luiz Evaristo Ricci Volpato, Maria Carmen Palma Faria Volpato, Lucas Antonio de Carvalho e Silva, Paulo Henrique de Souza Castro, Alvaro Henrique Borges
Publikováno v:
Revista Cubana de Estomatología, Vol 53, Iss 3, Pp 44-50 (2016)
A mutilação da face pode ocorrer devido à remoção cirúrgica de cânceres ou traumas na região, com importante prejuízo estético e funcional. Tais mutilações provocam alterações morfológicas, funcionais e psicossociais podendo levar o in
Externí odkaz:
https://doaj.org/article/86d958c3a4e147659a2d70008780911c
Autor:
Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A. Martín
Publikováno v:
Genes; Volume 13; Issue 10; Pages: 1835
Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We present two young adult female
Autor:
Emma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López, María de los Ángeles Gómez-Cano, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, José Miguel Lezana Rosales, Sonia Mayo de Andrés, María Teresa Sánchez-Calvín, María José Gómez-Rodríguez, Olalla Sierra Tomillo, Alexandra Juarez Rufian, Patricia Ramos Gomez, Clara Herrero-Forte, Maria Fenollar-Cortés, Carmen Cotarelo-Pérez, Adrián García Ron, Olga Pérez Rodríguez, Raluca Oancea-Ionescu, Marta Moreno-García
Publikováno v:
Neuropediatrics.
Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. H
Autor:
Maria C. Garrido, María Penalba Torres, Lucía Garzón Lorenzo, Marco Gil, Carmen Palma Milla, Jose Luis Rodriguez-Peralto, Sara I. Palencia Pérez
Publikováno v:
The American Journal of dermatopathology. 44(10)
We report a noteworthy case of a 10-year-old girl who presented with papular and nodular lesions on the skin that were clinically and histologically mistaken for progressive nodular histiocytosis. During the clinical management of the patient, the hi
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Autor:
Marta González-Sánchez, Antonio Mendez-Guerrero, Alejandro Herrero-San Martín, David A Pérez-Martínez, Juan Francisco Quesada Espinosa, Alberto García-Redondo, Daniel Borrego-Hernández, Sara Llamas-Velasco, Ana Arteche-López, José Miguel Lezana Rosales, Víctor Antonio Blanco-Palmero, Verónica Puertas Martín, Carmen Palma Milla, Alberto Villarejo-Galende
Publikováno v:
Re-Unir. Archivo Institucional de la Universidad Internacional de La Rioja
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Objective:SQSTM1-variants associated with frontotemporal lobar degeneration have been described recently. In this study, we investigated a heterozygous in-frame duplication c.436_462dup p. (Pro146_Cys154dup) in the SQSTM1 gene in a family with a new
Autor:
María Teresa Sánchez Calvín, José Miguel Lezana Rosales, Antonio Mendez-Guerrero, Irene Gómez Manjón, María José Gómez Rodríguez, Marta Moreno-García, Alberto Villarejo-Galende, Maria Isabel Alvarez-Mora, Juan Francisco Quesada Espinosa, Ana Arteche-López, Carmen Palma Milla
Publikováno v:
American Journal of Medical Genetics Part A. 185:591-595
Autor:
Irene Hidalgo Mayoral, Antonio Martínez-Salio, Sara Llamas-Velasco, Irene Gómez-Majón, Ana Arteche-López, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, Jose Miguel Lezana Rosales, Rubén Pérez de la Fuente, Alexandra Juárez Rufián, Olalla Sierra Tomillo, Maria Teresa Sánchez Calvín, Maria José Gómez Rodríguez, Patricia Ramos Gómez, Alberto Villarejo-Galende, Jaime Díaz-Guzmán, Maria Ángeles Ortega-Casarrubios, Patricia Calleja-Castaño, Marta Moreno-García
Publikováno v:
European journal of medical genetics. 65(8)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive vascular disorder caused by biallellic variants in HTRA1. Recently, it has been reported that several heterozygous mutatio