Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Renaltube group"'
1
Akademický článek
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
Autor: Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Renaltube group, Leire Madariaga
Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping
Externí odkaz: https://doaj.org/article/0ac1cc5ac3334835ae6db97c8261d02f
Zobrazit plný text záznamu
2
Akademický článek
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
Autor: Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, RenalTube Group, Gema Ariceta
Publikováno v: PLoS ONE, Vol 12, Iss 3, p e0173581 (2017)
Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic c
Externí odkaz: https://doaj.org/article/dc0787dd88464a0599e86f65e6e64df2
Zobrazit plný text záznamu
3
Akademický článek
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Autor: Félix Claverie-Martín, Víctor García-Nieto, Cesar Loris, Gema Ariceta, Inmaculada Nadal, Laura Espinosa, Ángeles Fernández-Maseda, Montserrat Antón-Gamero, Africa Avila, Álvaro Madrid, Hilaria González-Acosta, Elizabeth Córdoba-Lanus, Fernando Santos, Marta Gil-Calvo, Mar Espino, Elena García-Martinez, Ana Sanchez, Rafael Muley, RenalTube Group
Publikováno v: PLoS ONE, Vol 8, Iss 1, p e53151 (2013)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the C
Externí odkaz: https://doaj.org/article/2c3ebfb9b36c483bb8d72f29164232c0
Zobrazit plný text záznamu
4
Akademický článek
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
Autor: Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Alvaro Madrid, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Luis Castaño, Gema Ariceta, RenalTube Group
Publikováno v: PLoS ONE, Vol 8, Iss 9, p e74673 (2013)
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride channel protein ClC-Kb, in a c
Externí odkaz: https://doaj.org/article/faf587e08eab4f2391b9c36e6dd05082
Zobrazit plný text záznamu
5
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
7
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
Autor: Blanco, Francisco J., García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga Domínguez, Leire, Aguirre, Mireia, Madrid, Álvaro, Chocrón, Sara, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, García Nieto, Víctor, Barajas de Frutos, David, Loza, Reyner, Pintos, Guillem, Castaño González, Luis Antonio, RenalTube Group, Ariceta, Gema
Publikováno v: Addi. Archivo Digital para la Docencia y la Investigación
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
PLoS ONE
Plos One
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
PLoS ONE, Vol 12, Iss 3, p e0173581 (2017)
Excreció; Genètica humana; Mutació Excreción; Genética humana; Mutación Excretion; Human genetics; Mutation Introduction Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de21d385cbbc79914e20d274cd1e007
http://hdl.handle.net/10810/32587
Zobrazit plný text záznamu
8
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
Autor: García Castaño, A., Pérez de Nanclares, G., Madariaga, L., Aguirre, M., Chocron, S., Madrid, A., Lafita Tejedor, F.J., Gil Campos, M., Sánchez del Pozo, J., Ruiz Cano, R., Espino, M., Gomez Vida, J.M., Santos, F., García Nieto, V.M., Loza, R., Rodríguez, L.M., Hidalgo Barquero, E., Printza, N., Camacho, J.A., Castaño, L., Ariceta, G., RenalTube Group
Publikováno v: European Journal of Pediatrics. 174:1373-1385
Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patien
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::670a491d3dc3ec10f64191634905e85a
https://doi.org/10.1007/s00431-015-2534-4
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje