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Page 1
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.
Salomon J, Espinosa-Parrilla Y, Goulet O, Al-Qabandi W, Guigue P, Canioni D, Bruneau J, Alzahrani F, Almuhsen S, Cerf-Bensussan N, Jeanpierre M, Brousse N, Lyonnet S, Munnich A, Smahi A. Salomon J, et al. Among authors: jeanpierre m. Eur J Med Genet. 2011 May-Jun;54(3):319-22. doi: 10.1016/j.ejmg.2011.01.009. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21315192
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
Charbit-Henrion F, Bègue B, Sierra A, Hanein S, Stolzenberg MC, Li Z, Pellegrini S, Garcelon N, Jeanpierre M, Neven B, Loge I, Picard C, Rosain J, Bustamante J, Le Lorc'h M, Pigneur B, Fernandes A; GENIUS Group; Rieux-Laucat F, Amil Dias J, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. Among authors: jeanpierre m. PLoS One. 2018 Oct 26;13(10):e0205826. doi: 10.1371/journal.pone.0205826. eCollection 2018. PLoS One. 2018. PMID: 30365510 Free PMC article.
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM. Hanein S, et al. Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26. Am J Hum Genet. 2009. PMID: 19327736 Free PMC article.
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Viollet L, et al. Among authors: jeanpierre m. Eur J Hum Genet. 2004 Jun;12(6):483-8. doi: 10.1038/sj.ejhg.5201177. Eur J Hum Genet. 2004. PMID: 15054395
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J. Gerber S, et al. Among authors: jeanpierre m. Hum Genet. 2000 Sep;107(3):276-84. doi: 10.1007/s004390000350. Hum Genet. 2000. PMID: 11071390 Free article.
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M. Carrié A, et al. Among authors: jeanpierre m. J Med Genet. 1997 Jun;34(6):470-5. doi: 10.1136/jmg.34.6.470. J Med Genet. 1997. PMID: 9192266 Free PMC article.
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM. Perrault I, et al. PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7. PLoS One. 2013. PMID: 23308101 Free PMC article.
108 results