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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: steffann j. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France].
Lamazou F, Steffann J, Frydman N, Burlet P, Gigarel N, Romana S, Bonnefont JP, Lelorch M, Hesters L, Fanchin R, Kerbrat V, Vekemans M, Munnich A, Frydman R. Lamazou F, et al. Among authors: steffann j. J Gynecol Obstet Biol Reprod (Paris). 2011 Nov;40(7):682-6. doi: 10.1016/j.jgyn.2011.08.007. Epub 2011 Sep 22. J Gynecol Obstet Biol Reprod (Paris). 2011. PMID: 21944578 Free article. French.
Successful pre-implantation genetic diagnosis for Hirschsprung disease.
Burlet P, Steichen C, Hesters L, Gigarel N, Kerbrat V, Frydman R, Munnich A, Amiel J, Frydman N, Steffann J. Burlet P, et al. Among authors: steffann j. Clin Genet. 2011 Oct;80(4):403-5. doi: 10.1111/j.1399-0004.2011.01634.x. Clin Genet. 2011. PMID: 23464651 No abstract available.
[Preimplantation genetic diagnosis (PGD): results from a Parisian center].
Feyereisen E, Romana S, Kerbrat V, Steffann J, Gigarel N, Lelorc'h M, Burlet P, Ray P, Hamamah S, Chevalier N, Fanchin R, Foix-L'hélias L, Tachdjian G, Munnich A, Frydman R, Vekemans M, Frydman N. Feyereisen E, et al. Among authors: steffann j. J Gynecol Obstet Biol Reprod (Paris). 2006 Jun;35(4):356-72. doi: 10.1016/s0368-2315(06)76408-0. J Gynecol Obstet Biol Reprod (Paris). 2006. PMID: 16940905 Free article. French.
ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update.
Lovell-Badge R, Anthony E, Barker RA, Bubela T, Brivanlou AH, Carpenter M, Charo RA, Clark A, Clayton E, Cong Y, Daley GQ, Fu J, Fujita M, Greenfield A, Goldman SA, Hill L, Hyun I, Isasi R, Kahn J, Kato K, Kim JS, Kimmelman J, Knoblich JA, Mathews D, Montserrat N, Mosher J, Munsie M, Nakauchi H, Naldini L, Naughton G, Niakan K, Ogbogu U, Pedersen R, Rivron N, Rooke H, Rossant J, Round J, Saitou M, Sipp D, Steffann J, Sugarman J, Surani A, Takahashi J, Tang F, Turner L, Zettler PJ, Zhai X. Lovell-Badge R, et al. Among authors: steffann j. Stem Cell Reports. 2021 Jun 8;16(6):1398-1408. doi: 10.1016/j.stemcr.2021.05.012. Epub 2021 May 27. Stem Cell Reports. 2021. PMID: 34048692 Free PMC article. Review.
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV. Conte MI, et al. Among authors: steffann j. Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12. Hum Mutat. 2014. PMID: 24339369
106 results