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Page 1
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. Sarkozy A, et al. Among authors: ray p. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
Ovarian response in preimplantation genetic testing for myotonic dystrophy type 1.
Sonigo C, Ranisavljevic N, Guigui M, Anahory T, Mayeur A, Moutou C, Rongières C, Reignier A, Leperlier F, Melaye G, Girardet A, Ray PF, Steffann J, Pirrello O, Grynberg M. Sonigo C, et al. Among authors: ray pf. J Assist Reprod Genet. 2024 Dec 22. doi: 10.1007/s10815-024-03324-1. Online ahead of print. J Assist Reprod Genet. 2024. PMID: 39709315
Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice.
Zhou Y, Tu C, Coutton C, Tang J, Tian S, Tang S, Martinez G, Zhou D, Tebbakh C, Wang J, Zouari R, Zhou X, Ben Mustapha SF, Wang X, Wu B, Geng X, Liu S, Jin L, Shi H, Tan YQ, Ray PF, Wang L, Yang X, Zhang F, Liu C. Zhou Y, et al. Among authors: ray pf. Sci China Life Sci. 2024 Dec 18. doi: 10.1007/s11427-024-2757-7. Online ahead of print. Sci China Life Sci. 2024. PMID: 39704931
Prioritisation of infectious diseases from a public health perspective: a multi-criteria decision analysis study, France, 2024.
Ploin D, Alexandre M, Ventelou B, Che D, Coignard B, Boulanger N, Burucoa C, Caron F, Gallian P, Hansmann Y, Lienhardt C, Minodier P, Partouche H, Revest M, Saidani N, Salvat G, Vignier N, Floreani S; Collaborators’ group; Henry S, Pozzetto B, Hoen B; Experts of the criteria weighting group (alphabetically) Experts of the entity rating group (alphabetically) Experts from Santé publique France who provided the quantitative data (alphabetically). Ploin D, et al. Euro Surveill. 2024 Dec;29(50):2400074. doi: 10.2807/1560-7917.ES.2024.29.50.2400074. Euro Surveill. 2024. PMID: 39668764 Free PMC article.
2,774 results