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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.
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
104 results