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Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.
Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A. Barcia G, et al. Among authors: steffann j. Mol Genet Metab Rep. 2019 Oct 23;21:100522. doi: 10.1016/j.ymgmr.2019.100522. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31687337 Free PMC article. No abstract available.
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.
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: steffann j. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398
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
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
Gigarel N, Frydman N, Burlet P, Kerbrat V, Steffann J, Frydman R, Munnich A, Ray PF. Gigarel N, et al. Among authors: steffann j. Hum Genet. 2004 Feb;114(3):298-305. doi: 10.1007/s00439-003-1063-9. Epub 2003 Dec 12. Hum Genet. 2004. PMID: 14673643
Novel CFTR mutations in black cystic fibrosis patients.
Feuillet-Fieux MN, Ferrec M, Gigarel N, Thuillier L, Sermet I, Steffann J, Lenoir G, Bonnefont JP. Feuillet-Fieux MN, et al. Among authors: steffann j. Clin Genet. 2004 Apr;65(4):284-7. doi: 10.1111/j.1399-0004.2004.00230.x. Clin Genet. 2004. PMID: 15025720
105 results