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657 results

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Page 1
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F. Bonnet C, et al. Among authors: lathrop m. Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21. Orphanet J Rare Dis. 2011. PMID: 21569298 Free PMC article.
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J, Delépine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M. Magré J, et al. Among authors: lathrop m. Diabetes. 2003 Jun;52(6):1573-8. doi: 10.2337/diabetes.52.6.1573. Diabetes. 2003. PMID: 12765973
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group. Magré J, et al. Among authors: lathrop m. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585. Nat Genet. 2001. PMID: 11479539
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S. Van Maldergem L, et al. Among authors: lathrop m. J Med Genet. 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. J Med Genet. 2002. PMID: 12362029 Free PMC article.
A multi-stage multi-design strategy provides strong evidence that the BAI3 locus is associated with early-onset venous thromboembolism.
Antoni G, Morange PE, Luo Y, Saut N, Burgos G, Heath S, Germain M, Biron-Andreani C, Schved JF, Pernod G, Galan P, Zelenika D, Alessi MC, Drouet L, Visvikis-Siest S, Wells PS, Lathrop M, Emmerich J, Tregouet DA, Gagnon F. Antoni G, et al. Among authors: lathrop m. J Thromb Haemost. 2010 Dec;8(12):2671-9. doi: 10.1111/j.1538-7836.2010.04092.x. J Thromb Haemost. 2010. PMID: 20946148 Free article.
Association between circadian genes, bipolar disorders and chronotypes.
Etain B, Jamain S, Milhiet V, Lajnef M, Boudebesse C, Dumaine A, Mathieu F, Gombert A, Ledudal K, Gard S, Kahn JP, Henry C, Boland A, Zelenika D, Lechner D, Lathrop M, Leboyer M, Bellivier F. Etain B, et al. Among authors: lathrop m. Chronobiol Int. 2014 Aug;31(7):807-14. doi: 10.3109/07420528.2014.906445. Epub 2014 Apr 9. Chronobiol Int. 2014. PMID: 24716566
The 1993-94 Généthon human genetic linkage map.
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J. Gyapay G, et al. Among authors: lathrop m. Nat Genet. 1994 Jun;7(2 Spec No):246-339. doi: 10.1038/ng0694supp-246. Nat Genet. 1994. PMID: 7545953
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.
Lambert JC, Grenier-Boley B, Harold D, Zelenika D, Chouraki V, Kamatani Y, Sleegers K, Ikram MA, Hiltunen M, Reitz C, Mateo I, Feulner T, Bullido M, Galimberti D, Concari L, Alvarez V, Sims R, Gerrish A, Chapman J, Deniz-Naranjo C, Solfrizzi V, Sorbi S, Arosio B, Spalletta G, Siciliano G, Epelbaum J, Hannequin D, Dartigues JF, Tzourio C, Berr C, Schrijvers EM, Rogers R, Tosto G, Pasquier F, Bettens K, Van Cauwenberghe C, Fratiglioni L, Graff C, Delepine M, Ferri R, Reynolds CA, Lannfelt L, Ingelsson M, Prince JA, Chillotti C, Pilotto A, Seripa D, Boland A, Mancuso M, Bossù P, Annoni G, Nacmias B, Bosco P, Panza F, Sanchez-Garcia F, Del Zompo M, Coto E, Owen M, O'Donovan M, Valdivieso F, Caffarra P, Scarpini E, Combarros O, Buée L, Campion D, Soininen H, Breteler M, Riemenschneider M, Van Broeckhoven C, Alpérovitch A, Lathrop M, Trégouët DA, Williams J, Amouyel P. Lambert JC, et al. Among authors: lathrop m. Mol Psychiatry. 2013 Apr;18(4):461-70. doi: 10.1038/mp.2012.14. Epub 2012 Mar 20. Mol Psychiatry. 2013. PMID: 22430674 Free PMC article.
657 results