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Page 1
Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21.
McKay JD, Lesueur F, Jonard L, Pastore A, Williamson J, Hoffman L, Burgess J, Duffield A, Papotti M, Stark M, Sobol H, Maes B, Murat A, Kääriäinen H, Bertholon-Grégoire M, Zini M, Rossing MA, Toubert ME, Bonichon F, Cavarec M, Bernard AM, Boneu A, Leprat F, Haas O, Lasset C, Schlumberger M, Canzian F, Goldgar DE, Romeo G. McKay JD, et al. Among authors: jonard l. Am J Hum Genet. 2001 Aug;69(2):440-6. doi: 10.1086/321979. Epub 2001 Jul 2. Am J Hum Genet. 2001. PMID: 11438887 Free PMC article.
Screening of SLC26A4 gene in autoimmune thyroid diseases.
Kallel R, Niasme-Grare M, Belguith-Maalej S, Mnif M, Abid M, Ayadi H, Masmoudi S, Jonard L, Hadj Kacem H. Kallel R, et al. Among authors: jonard l. Int J Immunogenet. 2013 Aug;40(4):284-91. doi: 10.1111/iji.12035. Epub 2012 Dec 22. Int J Immunogenet. 2013. PMID: 23280318
H syndrome with histological features of Langerhans cell histiocytosis.
Korbi M, Aounallah A, Hmida D, Ghariani N, Saidi W, Boussofara L, Belajouza C, Jonard L, Sriha B, Saad A, Denguezli M, Nouira R. Korbi M, et al. Among authors: jonard l. Indian J Dermatol Venereol Leprol. 2016 Nov-Dec;82(6):702-704. doi: 10.4103/0378-6323.185044. Indian J Dermatol Venereol Leprol. 2016. PMID: 27364927 Free article. No abstract available.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rötig A, Delahodde A, Marlin S. Paul A, et al. Among authors: jonard l. Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965846 Free PMC article.
Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.
Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portnoï MF, Couderc R, Vazquez MP, Bahuau M. Lirussi F, et al. Among authors: jonard l. Am J Med Genet A. 2007 Dec 1;143A(23):2796-803. doi: 10.1002/ajmg.a.31768. Am J Med Genet A. 2007. PMID: 17994567
Phenotype and genotype in females with POU3F4 mutations.
Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A. Marlin S, et al. Among authors: jonard l. Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x. Clin Genet. 2009. PMID: 19930154
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Brémont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L. Flamein F, et al. Among authors: jonard l. Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7. Hum Mol Genet. 2012. PMID: 22068586 Free PMC article.
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.
Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Da Costa B, Le Guédard M, Stojkovic T, Loundon N, Rouillon I, Nadjar Y, Letellier T, Jonard L, Marlin S, Rocher C. Gutiérrez Cortés N, et al. Among authors: jonard l. Hum Mol Genet. 2020 Apr 15;29(6):980-989. doi: 10.1093/hmg/ddaa020. Hum Mol Genet. 2020. PMID: 32011699
New surfactant protein C gene mutations associated with diffuse lung disease.
Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D. Guillot L, et al. Among authors: jonard l. J Med Genet. 2009 Jul;46(7):490-4. doi: 10.1136/jmg.2009.066829. Epub 2009 May 13. J Med Genet. 2009. PMID: 19443464 Free article.
50 results