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1991 1
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87 results

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Page 1
Preclinical quality, safety, and efficacy of a human embryonic stem cell-derived product for the treatment of Parkinson's disease, STEM-PD.
Kirkeby A, Nelander J, Hoban DB, Rogelius N, Bjartmarz H; Novo Nordisk Cell Therapy R&D; Storm P, Fiorenzano A, Adler AF, Vale S, Mudannayake J, Zhang Y, Cardoso T, Mattsson B, Landau AM, Glud AN, Sørensen JC, Lillethorup TP, Lowdell M, Carvalho C, Bain O, van Vliet T, Lindvall O, Björklund A, Harry B, Cutting E, Widner H, Paul G, Barker RA, Parmar M. Kirkeby A, et al. Cell Stem Cell. 2023 Oct 5;30(10):1299-1314.e9. doi: 10.1016/j.stem.2023.08.014. Cell Stem Cell. 2023. PMID: 37802036 Free article.
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
International Genetics of Ankylosing Spondylitis Consortium (IGAS); Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2); Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA. International Genetics of Ankylosing Spondylitis Consortium (IGAS), et al. Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9. Nat Genet. 2013. PMID: 23749187 Free PMC article.
Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis.
Udler MS, Kim J, von Grotthuss M, Bonàs-Guarch S, Cole JB, Chiou J; Christopher D. Anderson on behalf of METASTROKE and the ISGC; Boehnke M, Laakso M, Atzmon G, Glaser B, Mercader JM, Gaulton K, Flannick J, Getz G, Florez JC. Udler MS, et al. PLoS Med. 2018 Sep 21;15(9):e1002654. doi: 10.1371/journal.pmed.1002654. eCollection 2018 Sep. PLoS Med. 2018. PMID: 30240442 Free PMC article.
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.
Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group; Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J. Schormair B, et al. Nat Genet. 2024 Jun;56(6):1090-1099. doi: 10.1038/s41588-024-01763-1. Epub 2024 Jun 5. Nat Genet. 2024. PMID: 38839884 Free PMC article.
Sex-specific meta-analyses revealed largely overlapping genetic predispositions of the sexes (r(g) = 0.96). Locus annotation prioritized druggable genes such as glutamate receptors 1 and 4, and Mendelian randomization indicated RLS as a causal risk factor for diabetes. ...
Sex-specific meta-analyses revealed largely overlapping genetic predispositions of the sexes (r(g) = 0.96). Locus annotation prioritized dru …
[Clinical characteristics of multiple endocrine neoplasia].
Conte-Devolx B, Niccoli P; Groupe d'étude des Tumeurs Endocrines. Conte-Devolx B, et al. Bull Acad Natl Med. 2010 Jan;194(1):69-78; discussion 78-9. Bull Acad Natl Med. 2010. PMID: 20669560 Review. French.
[Genetics of endocrine tumours].
Calender A, Dupasquier S, Cordier M, Zhang CX; Groupe d'Etude des Tumeurs Endocrines. Calender A, et al. Ann Pathol. 2005 Dec;25(6):463-86. doi: 10.1016/s0242-6498(05)86161-9. Ann Pathol. 2005. PMID: 16735973 Review. French.
The responsible gene, known as MEN-1, encodes an original protein, menin, involved in several major cellular functions, such as the control of cell proliferation and differentiation. ...Finally, isolated familial syndromes of endocrine tumors have been described: isolated …
The responsible gene, known as MEN-1, encodes an original protein, menin, involved in several major cellular functions, such as the c …
[HER2 gene amplification assay: is CISH an alternative to FISH?].
Denoux Y, Arnould L, Fiche M, Lannes B, Couturier J, Vincent-Salomon A, Penault-Llorca F, Antoine M, Balaton A, Baranzelli MC, Becette V, Bellocq JP, Bibeau F, Ettore F, Fridman V, Gnassia JP, Jacquemier J, MacGrogan G, Mathieu MC, Migeon C, Rigaud C, Roger P, Sigal-Zafrani B, Simony-Lafontaine J, Trassard M, Treilleux I, Verriele V, Voigt JJ; Groupe d'Etude des Facteurs Pronostiques en Immunohistochimie dans le Cancer du Sein. Denoux Y, et al. Ann Pathol. 2003 Dec;23(6):617-22. Ann Pathol. 2003. PMID: 15094603 Review. French.
Overexpression of this protein found by immunohistochemistry in about 20% of infiltrating breast carcinomas, has a predictive value of response to treatment by trastuzumab, an anti-HER2 humanized monoclonal antibody. Search for HER2 gene amplification is necessary to adapt …
Overexpression of this protein found by immunohistochemistry in about 20% of infiltrating breast carcinomas, has a predictive value of respo …
[Recommendations for hypercholesterolemic children].
Luc G, Girardet JP, Bruckert É, Rieu D, Farnier M, Darmaun D; Nouvelle Société Française d’Athérosclérose; Société Française de Pédiatrie. Luc G, et al. Presse Med. 2011 Feb;40(2):138-50. doi: 10.1016/j.lpm.2010.12.001. Presse Med. 2011. PMID: 21391309 French.
The monogenic dominantly inherited hypercholesterolemias such as the familial hypercholesterolemia due to mutations on LDL receptor gene corresponds to these diseases. This article, jointly elaborated by the Nouvelle Societe Francaise d'Atherosclerose together with the Nut …
The monogenic dominantly inherited hypercholesterolemias such as the familial hypercholesterolemia due to mutations on LDL receptor gene …
Deregulation of genetic pathways in neuroendocrine tumors.
Calender A, Vercherat C, Gaudray P, Chayvialle JA; GENEM (Groupe d' Etude des Neoplasies Endocriniennes Multiples). Calender A, et al. Ann Oncol. 2001;12 Suppl 2:S3-11. doi: 10.1093/annonc/12.suppl_2.s3. Ann Oncol. 2001. PMID: 11762348 Free article. Review.
Carney and uncommonly Recklinghausen and Tuberous Sclerosis syndromes represent almost the whole panel of genetic diseases for which genes have been cloned and most of the functional knowledge has been collected. All the endocrine glands are concerned in these diseases, bu …
Carney and uncommonly Recklinghausen and Tuberous Sclerosis syndromes represent almost the whole panel of genetic diseases for which gene …
Sclerosing Epithelioid Fibrosarcoma (SEF) versus Low Grade Fibromyxoid Sarcoma (LGFMS): Presentation and outcome in the nationwide NETSARC+ series of 330 patients over 13 years.
Blay JY, Tlemsani C, Toulmonde M, Italiano A, Rios M, Bompas E, Valentin T, Duffaud F, Le Nail LR, Watson S, Firmin N, Dubray-Longeras P, Ropars M, Perrin C, Hervieu A, Lebbe C, Saada-Bouzid E, Soibinet P, Fiorenza F, Bertucci F, Boudou P, Vaz G, Bonvalot S, Honoré C, Marec-Berard P, Minard V, Cleirec M, Biau D, Meeus P, Babinet A, Dumaine V, Carriere S, Fau M, Decanter G, Gouin F, Ngo C, Le Loarer F, Karanian M, Meurgey A, Dufresne A, Brahmi M, Chemin-Airiau C, Ducimetiere F, Penel N, Le Cesne A; NETSARC/REPPS/RESOS and French Sarcoma Group- Groupe d′Etude des Tumeurs Osseuses (GSF-GETO) networks. Blay JY, et al. Eur J Cancer. 2024 Jan;196:113454. doi: 10.1016/j.ejca.2023.113454. Epub 2023 Nov 23. Eur J Cancer. 2024. PMID: 38008029 Free article.
87 results