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Page 1
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: maassen j. 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.
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: maassen ja. Diabetes. 2003 Jun;52(6):1573-8. doi: 10.2337/diabetes.52.6.1573. Diabetes. 2003. PMID: 12765973
Two naturally occurring insulin receptor tyrosine kinase domain mutants provide evidence that phosphoinositide 3-kinase activation alone is not sufficient for the mediation of insulin's metabolic and mitogenic effects.
Krook A, Whitehead JP, Dobson SP, Griffiths MR, Ouwens M, Baker C, Hayward AC, Sen SK, Maassen JA, Siddle K, Tavaré JM, O'Rahilly S. Krook A, et al. Among authors: maassen ja. J Biol Chem. 1997 Nov 28;272(48):30208-14. doi: 10.1074/jbc.272.48.30208. J Biol Chem. 1997. PMID: 9374504 Free article.
Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
Reiling E, van Vliet-Ostaptchouk JV, van 't Riet E, van Haeften TW, Arp PA, Hansen T, Kremer D, Groenewoud MJ, van Hove EC, Romijn JA, Smit JW, Nijpels G, Heine RJ, Uitterlinden AG, Pedersen O, Slagboom PE, Maassen JA, Hofker MH, 't Hart LM, Dekker JM. Reiling E, et al. Among authors: maassen ja. Eur J Hum Genet. 2009 Aug;17(8):1056-62. doi: 10.1038/ejhg.2009.4. Epub 2009 Feb 11. Eur J Hum Genet. 2009. PMID: 19209188 Free PMC article.
214 results