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315 results

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Page 1
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, Munnich A, Lyonnet S, Desguerre I, Amiel J. De Pontual L, et al. Among authors: crow y. Pediatr Res. 2008 Dec;64(6):689-94. doi: 10.1203/PDR.0b013e318187dd0e. Pediatr Res. 2008. PMID: 18670370
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. Among authors: crow yj. 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.
JAK Inhibition in the Aicardi-Goutières Syndrome.
Neven B, Al Adba B, Hully M, Desguerre I, Pressiat C, Boddaert N, Duffy D, Rice GI, Seabra L, Frémond ML, Blanche S, Crow YJ. Neven B, et al. N Engl J Med. 2020 Nov 26;383(22):2190-2191. doi: 10.1056/NEJMc2031081. N Engl J Med. 2020. PMID: 33252884 No abstract available.
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study; Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L. Mircsof D, et al. Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16. Nat Neurosci. 2015. PMID: 26571461 Free PMC article.
Detection of interferon alpha protein reveals differential levels and cellular sources in disease.
Rodero MP, Decalf J, Bondet V, Hunt D, Rice GI, Werneke S, McGlasson SL, Alyanakian MA, Bader-Meunier B, Barnerias C, Bellon N, Belot A, Bodemer C, Briggs TA, Desguerre I, Frémond ML, Hully M, van den Maagdenberg AMJM, Melki I, Meyts I, Musset L, Pelzer N, Quartier P, Terwindt GM, Wardlaw J, Wiseman S, Rieux-Laucat F, Rose Y, Neven B, Hertel C, Hayday A, Albert ML, Rozenberg F, Crow YJ, Duffy D. Rodero MP, et al. Among authors: crow yj. J Exp Med. 2017 May 1;214(5):1547-1555. doi: 10.1084/jem.20161451. Epub 2017 Apr 18. J Exp Med. 2017. PMID: 28420733 Free PMC article.
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ. Rodero MP, et al. Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3. Nat Commun. 2017. PMID: 29259162 Free PMC article.
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Gitiaux C, Bondet V, Bekaddour N, Nusbaum P, Hubas A, Melki I, Bodemer C, Quartier P, Desguerre I, Crow YJ, Herbeuval JP, Duffy D, Bader Meunier B, Rodero MP. Gitiaux C, et al. Rheumatology (Oxford). 2020 May 1;59(5):1171-1174. doi: 10.1093/rheumatology/kez508. Rheumatology (Oxford). 2020. PMID: 31665500 Free article. No abstract available.
315 results