Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2

Autor: Jl, San Millán, Viribay M, BELEN PERAL, Martínez I, Weissenbach J, Moreno F

Publikováno v: Europe PubMed Central

Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. At least two distinct forms of ADPKD are now well defined. In approximately 86% of affected European families, a gene defect localized to 16p13.3 was respon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::808757ad81a5bd017c2853476db48b4b
https://pubmed.ncbi.nlm.nih.gov/7825585

Non-targeted profiling of circulating microRNAs in women with polycystic ovary syndrome (PCOS): effects of obesity and sex hormones.

Autor: Murri M; Diabetes, Obesity and Human Reproduction Research Group, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain., Insenser M; Diabetes, Obesity and Human Reproduction Research Group, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain., Fernández-Durán E; Diabetes, Obesity and Human Reproduction Research Group, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain., San-Millán JL; Diabetes, Obesity and Human Reproduction Research Group, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain., Luque-Ramírez M; Diabetes, Obesity and Human Reproduction Research Group, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain., Escobar-Morreale HF; Diabetes, Obesity and Human Reproduction Research Group, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain. Electronic address: hectorfrancisco.escobar@salud.madrid.org.

Publikováno v: Metabolism: clinical and experimental [Metabolism] 2018 Sep; Vol. 86, pp. 49-60. Date of Electronic Publication: 2018 Feb 02.

The R453Q and D151A polymorphisms of hexose-6-phosphate dehydrogenase gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity.

Autor: Martínez-García MA; Diabetes, Obesity and Human Reproduction Research Group, Universidad de Alcalá & Hospital Universitario Ramon y Cajal & Instituto Ramón y Cajal de Investigación Sanitaria IRYCIS, 28034 Madrid, Spain., San-Millán JL, Escobar-Morreale HF

Publikováno v: Gene [Gene] 2012 Apr 10; Vol. 497 (1), pp. 38-44. Date of Electronic Publication: 2012 Jan 28.

Proteomic analysis of plasma in the polycystic ovary syndrome identifies novel markers involved in iron metabolism, acute-phase response, and inflammation.

Autor: Insenser M; Department of Endocrinology, Hospital Universitario Ramón y Cajal and Universidad de Alcalá, Carretera de Colmenar Viejo Km 9,1 Madrid E-28034, Spain., Martínez-García MA, Montes R, San-Millán JL, Escobar-Morreale HF

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2010 Aug; Vol. 95 (8), pp. 3863-70. Date of Electronic Publication: 2010 May 19.

Body iron stores and glucose intolerance in premenopausal women: role of hyperandrogenism, insulin resistance, and genomic variants related to inflammation, oxidative stress, and iron metabolism.

Autor: Martínez-García MA; Department of Endocrinology, Hospital Universitario Ramón y Cajal and Universidad de Alcala, Madrid, Spain., Luque-Ramírez M, San-Millán JL, Escobar-Morreale HF

Publikováno v: Diabetes care [Diabetes Care] 2009 Aug; Vol. 32 (8), pp. 1525-30. Date of Electronic Publication: 2009 Apr 28.