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Recurrent KIF2A mutations are responsible for classic lissencephaly.
Cavallin M, Bijlsma EK, El Morjani A, Moutton S, Peeters EA, Maillard C, Pedespan JM, Guerrot AM, Drouin-Garaud V, Coubes C, Genevieve D, Bole-Feysot C, Fourrage C, Steffann J, Bahi-Buisson N. Cavallin M, et al. Among authors: steffann j. Neurogenetics. 2017 Apr;18(2):73-79. doi: 10.1007/s10048-016-0499-8. Epub 2016 Oct 17. Neurogenetics. 2017. PMID: 27747449
A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Philbert M, Maillard C, Cavallin M, Goldenberg A, Masson C, Boddaert N, El Morjani A, Steffann J, Chelly J, Gerard X, Bahi-Buisson N. Philbert M, et al. Among authors: steffann j. Am J Med Genet A. 2017 Feb;173(2):561-564. doi: 10.1002/ajmg.a.38041. Epub 2016 Nov 27. Am J Med Genet A. 2017. PMID: 27891766 No abstract available.
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Among authors: steffann j. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
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.
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z, Jambou M, Rio M, Bole-Feysot C, de Lonlay P, Barnerias C, Desguerre I, Bonnemains C, Guillermet C, Steffann J, Munnich A, Bonnefont JP, Rötig A, Lebre AS. Assouline Z, et al. Among authors: steffann j. Biochim Biophys Acta. 2012 Jun;1822(6):1062-9. doi: 10.1016/j.bbadis.2012.01.013. Epub 2012 Feb 3. Biochim Biophys Acta. 2012. PMID: 22326555 Free article.
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.
Rodari MM, Cazals-Hatem D, Uzzan M, Martin Silva N, Khiat A, Ta MC, Lhermitte L, Touzart A, Hanein S, Rouillon C, Joly F, Elmorjani A, Steffann J, Cerf-Bensussan N, Parlato M, Charbit-Henrion F. Rodari MM, et al. Among authors: steffann j. J Clin Immunol. 2023 Aug;43(6):1403-1413. doi: 10.1007/s10875-023-01495-7. Epub 2023 May 9. J Clin Immunol. 2023. PMID: 37156989 Free PMC article.
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: steffann j. Am J Hum Genet. 2001 Dec;69(6):1370-7. doi: 10.1086/324342. Epub 2001 Oct 10. Am J Hum Genet. 2001. PMID: 11595972 Free PMC article.
NDP gene mutations in 14 French families with Norrie disease.
Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP. Royer G, et al. Among authors: steffann j. Hum Mutat. 2003 Dec;22(6):499. doi: 10.1002/humu.9204. Hum Mutat. 2003. PMID: 14635119
108 results