Zobrazeno 1 - 10
of 21
pro vyhledávání: '"J Ramón, Bilbao"'
Autor:
María Bargadá, P. Martul, Guiomar Perez de Nanclares, Christian M. Moya, Pilar Santisteban, Enric Vicens-Calvet, Raquel Coya, J. Ramón Bilbao, Luis Castaño, Neus Potau, Antonio Carrascosa
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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instname
10 pages, 8 figures.-- et al.
[Context]: We studied two sisters with congenital hypothyroidism and choreoathetosis but not respiratory distress. [Objective]: The aim of this study was to establish the genetic defect that causes this phenotype an
[Context]: We studied two sisters with congenital hypothyroidism and choreoathetosis but not respiratory distress. [Objective]: The aim of this study was to establish the genetic defect that causes this phenotype an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d7e1f385c7dab613e0076bffe54037
https://doi.org/10.1210/jc.2005-1497
https://doi.org/10.1210/jc.2005-1497
Autor:
Luis Castaño, Begoña Calvo, J. Ramón Bilbao, Guiomar Perez de Nanclares, Ainhoa Martín-Pagola, Gepv-N
Publikováno v:
Annals of the New York Academy of Sciences. 958:321-324
The maximum genetic susceptibility to type 1 diabetes (T1DM) in Basques is conferred by extended HLA haplotype F1C30-DR3-DQ2-DPB1*0202. Due to the strong linkage disequilibrium within the haplotype, it is difficult to determine which individual allel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcf43dc5679cc7da18bc86d5f510d01
https://doi.org/10.1111/j.1749-6632.2002.tb02996.x
https://doi.org/10.1111/j.1749-6632.2002.tb02996.x
Publikováno v:
Annals of the New York Academy of Sciences. 1037:127-130
Type 1 diabetes is associated with autoimmune responses against insulin, with insulin autoantibodies (IAA) being a hallmark of the disease. Genetic susceptibility to type 1 diabetes is polygenic and includes the INS VNTR-IDDM2 locus, which has been s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e662de7c57eaaf205dd07a6754f615
https://doi.org/10.1196/annals.1337.020
https://doi.org/10.1196/annals.1337.020
Autor:
Ainhoa Martín-Pagola, Rosa Zaballa, Idoia Hualde, Luis Castaño, Lourdes Ortiz, J. Ramón Bilbao, Juan Carlos Vitoria, Enriqueta Preciado, Gustavo Pérez-Nanclares
Publikováno v:
Immunogenetics. 56:549-554
MHC class I chain-related gene A (MICA), a putative independent susceptibility gene in autoimmune diseases, encodes a surface protein present in epithelial cells that binds to NKG2D, an activating receptor of NK, alphabeta and gammadelta T cells, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aeacc29183e5370030433fdb1f9f116
https://doi.org/10.1007/s00251-004-0724-8
https://doi.org/10.1007/s00251-004-0724-8
Autor:
Federico Vázquez, J. Ramón Bilbao, Luis Castaño, Guiomar Perez de Nanclares, Ainhoa Martín-Pagola
Publikováno v:
Autoimmunity. 37:453-456
Background: Addison’s disease (AD) is an autoimmune disorder caused by the destruction of the adrenal gland by the lymphocytes in genetically susceptible individuals. The contribution of HLA genes to the genetic risk to AD has been known for a long
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44d145cb22b37bc4720d2bcd8f680770
https://doi.org/10.1080/08916930400001917
https://doi.org/10.1080/08916930400001917
Autor:
Luis Castaño, P. Martul, Juan Carlos Vitoria, Itxaso Rica, Javier Nunez, J. Ramón Bilbao, Elisabeth Blarduni, Lourdes Ortiz
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition. 39:80-84
Celiac disease (CD) is an autoimmune enteropathy that develops in genetically susceptible individuals exposed to gliadin. Early diagnosis of CD may reduce the risk of complications, and several studies have related the duration of gluten exposure to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f81929a0f8c3bb5c5cde973bfd2e2305
https://doi.org/10.1097/00005176-200407000-00016
https://doi.org/10.1097/00005176-200407000-00016
Autor:
Ainhoa Martín-Pagola, Juan Carlos Vitoria, Luis Castaño, J. Ramón Bilbao, Guiomar Perez de Nanclares, Federico Vázquez, Begoña Calvo
Publikováno v:
Annals of the New York Academy of Sciences. 1005:314-318
Autoimmune disorders such as type 1 diabetes (T1DM), celiac disease (CD), and Addison's disease (ADD) develop in individuals with genetic susceptibility that are exposed to environmental triggering factors not completely defined. Patients with an aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53a054ebae197cc45b4f1c15c2b3cb36
https://doi.org/10.1196/annals.1288.049
https://doi.org/10.1196/annals.1288.049
Autor:
Federico Vázquez, Luis Castaño, Juan Carlos Vitoria, Begoña Calvo, J. Ramón Bilbao, Guiomar Perez de Nanclares
Publikováno v:
Annals of the New York Academy of Sciences. 1005:319-323
The VNTR region located at the 5′-end of the insulin gene on chromosome 11p15.5 is linked to susceptibility to type 1 diabetes mellitus (T1DM), and class I alleles have been associated with increased risk of disease, whereas class III alleles are c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b51feb7f73d3c73d149faac176a5d0c4
https://doi.org/10.1196/annals.1288.050
https://doi.org/10.1196/annals.1288.050
Publikováno v:
Annals of the New York Academy of Sciences. 1037
Although multiple sclerosis (MS) usually appears isolated from other autoimmune disorders, an overlap with type 1 diabetes mellitus (T1DM) has been described in Sardinia, where T1DM-associated haplotype HLA-B18-DR3-DQ2 contributes to MS risk. To dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646b5bda17268d7e66ef7759a85f5818
https://pubmed.ncbi.nlm.nih.gov/15699507
https://pubmed.ncbi.nlm.nih.gov/15699507
Publikováno v:
Human Genetics. 97:537-539
The Y chromosome gene SRY plays an important role in normal male sexual development and is thought to be the testis-determining factor. We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0bd6e2b04b5ea330717579092967534
https://doi.org/10.1007/bf02267082
https://doi.org/10.1007/bf02267082