Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Carmen Palma-Milla"'
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f05999cb35a310e90585e218a81ce0a
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1b289f1210577d267a2c7359c7d26a
https://pubmed.ncbi.nlm.nih.gov/36126956
https://pubmed.ncbi.nlm.nih.gov/36126956
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bcf7d8bbddebd35679edc540b94a80
https://pubmed.ncbi.nlm.nih.gov/36122334
https://pubmed.ncbi.nlm.nih.gov/36122334
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::958d1027f15f7635df895ab947b0f1f0
https://doi.org/10.1080/21678421.2021.1927101
https://doi.org/10.1080/21678421.2021.1927101
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3c49380f8d6bf0ba7a675bd70ef3100
https://doi.org/10.1002/ajmg.a.61999
https://doi.org/10.1002/ajmg.a.61999
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec6a1269ad393a3e1b5f5bfd100822ad
https://pubmed.ncbi.nlm.nih.gov/35705147
https://pubmed.ncbi.nlm.nih.gov/35705147
Autor:
Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Irene Gómez-Manjón, Carmen Palma-Milla, Jose Miguel Lezana-Rosales, Ruben Pérez de la Fuente, Maria-Luisa Martin-Ramos, Manuela Fernández-Guijarro, Marta Moreno-García, Maria Isabel Alvarez-Mora
Publikováno v:
Genes. 13:1609
Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1 gene. Size and methylation mosaicisms are commonly observed in FXS patients. Both types of mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3efd01202f51828b24e06894e418439
https://doi.org/10.3390/genes13091609
https://doi.org/10.3390/genes13091609
Autor:
Sara, Llamas-Velasco, Ana, Arteche-López, Antonio, Méndez-Guerrero, Verónica, Puertas Martín, Juan Francisco, Quesada Espinosa, Jose Miguel, Lezana Rosales, Marta, González-Sánchez, Victor Antonio, Blanco-Palmero, Carmen, Palma Milla, Alejandro, Herrero-San Martín, Daniel, Borrego-Hernández, Alberto, García-Redondo, David Andrés, Pérez-Martínez, Alberto, Villarejo-Galende
Publikováno v:
Amyotrophic lateral sclerosisfrontotemporal degeneration. 22(7-8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e267219b5881e868a1ace232958d69d
https://pubmed.ncbi.nlm.nih.gov/34009082
https://pubmed.ncbi.nlm.nih.gov/34009082
Autor:
Jaime Cruz-Rojo, Ollalla Sierra-Tomillo, Marta Moreno-García, Rubén Pérez de la Fuente, Laura Rausell-Sánchez, Jesus Gallego-Merlo, Alexandra Juárez-Rufián, José Miguel Lezana-Rosales, Irene Gómez-Manjón, Ana Bustamante-Aragones, María Teresa Sánchez-Calvín, Patricia Ramos-Gómez, A. Camacho-Salas, J. Pozo, Montserrat Morales-Conejo, Lucía Garzón-Lorenzo, Rogelio Simón de las Heras, Maria Isabel Alvarez-Mora, Irene Lázaro-Rodríguez, Juan Francisco Quesada-Espinosa, Irene Hidalgo-Mayoral, María A. Gomez-Cano, Ana Arteche-López, Carmen Palma-Milla, N. Núñez-Enamorado, Maria José Gómez-Rodríguez
Publikováno v:
Neurogenetics. 22(4)
Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired thyroid metabolism and aberrant transport of thyroid hormones to the brain. Carrier female
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6307c1108292acf0151db700ceebe5e
https://pubmed.ncbi.nlm.nih.gov/34296368
https://pubmed.ncbi.nlm.nih.gov/34296368