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Page 1
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network. Lesca G, et al. Among authors: calender a. Hum Mutat. 2006 Jun;27(6):598. doi: 10.1002/humu.9421. Hum Mutat. 2006. PMID: 16705692
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H; French-Italian HHT Network. Lesca G, et al. Among authors: calender a. Eur J Hum Genet. 2008 Jun;16(6):742-9. doi: 10.1038/ejhg.2008.3. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285823
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hu… See abstract for full author list ➔ Coignard J, et al. Nat Commun. 2021 Feb 17;12(1):1078. doi: 10.1038/s41467-020-20496-3. Nat Commun. 2021. PMID: 33597508 Free PMC article.
Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis.
Coudurier M, Freymond N, Aissaoui S, Calender A, Pacheco Y, Devouassoux G. Coudurier M, et al. Among authors: calender a. Sarcoidosis Vasc Diffuse Lung Dis. 2009 Jul;26(2):162-6. Sarcoidosis Vasc Diffuse Lung Dis. 2009. PMID: 20560297
[Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome].
Van Denhove A, Guillot-Pouget I, Giraud S, Isaac S, Freymond N, Calender A, Pacheco Y, Devouassoux G. Van Denhove A, et al. Among authors: calender a. Rev Mal Respir. 2011 Mar;28(3):355-9. doi: 10.1016/j.rmr.2010.08.015. Epub 2011 Feb 23. Rev Mal Respir. 2011. PMID: 21482341 French.
170 results