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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Allali S, et al. J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415077 Free PMC article.
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Among authors: allali s. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.
Clinical, biological and genetic analysis of anorchia in 26 boys.
Brauner R, Neve M, Allali S, Trivin C, Lottmann H, Bashamboo A, McElreavey K. Brauner R, et al. Among authors: allali s. PLoS One. 2011;6(8):e23292. doi: 10.1371/journal.pone.0023292. Epub 2011 Aug 10. PLoS One. 2011. PMID: 21853106 Free PMC article.
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
Allali S, Muller JB, Brauner R, Lourenço D, Boudjenah R, Karageorgou V, Trivin C, Lottmann H, Lortat-Jacob S, Nihoul-Fékété C, De Dreuzy O, McElreavey K, Bashamboo A. Allali S, et al. PLoS One. 2011;6(10):e24117. doi: 10.1371/journal.pone.0024117. Epub 2011 Oct 20. PLoS One. 2011. PMID: 22028768 Free PMC article.
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.
de Cevins C, Luka M, Smith N, Meynier S, Magérus A, Carbone F, García-Paredes V, Barnabei L, Batignes M, Boullé A, Stolzenberg MC, Pérot BP, Charbit B, Fali T, Pirabakaran V, Sorin B, Riller Q, Abdessalem G, Beretta M, Grzelak L, Goncalves P, Di Santo JP, Mouquet H, Schwartz O, Zarhrate M, Parisot M, Bole-Feysot C, Masson C, Cagnard N, Corneau A, Brunaud C, Zhang SY, Casanova JL, Bader-Meunier B, Haroche J, Melki I, Lorrot M, Oualha M, Moulin F, Bonnet D, Belhadjer Z, Leruez M, Allali S, Gras-Leguen C, de Pontual L; Pediatric-Biocovid Study Group; Fischer A, Duffy D, Rieux-Laucat F, Toubiana J, Ménager MM. de Cevins C, et al. Among authors: allali s. Med. 2021 Sep 10;2(9):1072-1092.e7. doi: 10.1016/j.medj.2021.08.002. Epub 2021 Aug 14. Med. 2021. PMID: 34414385 Free PMC article.
Association between SARS-CoV-2 infection and Kawasaki-like multisystem inflammatory syndrome: a retrospective matched case-control study, Paris, France, April to May 2020.
Toubiana J, Levy C, Allali S, Jung C, Leruez-Ville M, Varon E, Bajolle F, Ouldali N, Chareyre J, Béchet S, Elbez A, Casanova JL, Chalumeau M, Cohen R, Cohen JF. Toubiana J, et al. Among authors: allali s. Euro Surveill. 2020 Dec;25(48):2001813. doi: 10.2807/1560-7917.ES.2020.25.48.2001813. Euro Surveill. 2020. PMID: 33272357 Free PMC article.
80 results