Kalotina Machinis

Serge Amselem	grad student	2004	Université Paris 7
(Génétique moléculaire des maladies de la croissance et développement pituitaire)

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Blum WF, Machinis K, Shavrikova EP, et al. (2006) The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. The Journal of Clinical Endocrinology and Metabolism. 91: 4171-4
GÃ©rard-Blanluet M, Sheen V, Machinis K, et al. (2006) Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. American Journal of Medical Genetics. Part A. 140: 1041-6
Machinis K, Amselem S. (2005) Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. The Journal of Clinical Endocrinology and Metabolism. 90: 5456-62
Machinis K, Pantel J, Netchine I, et al. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. American Journal of Human Genetics. 69: 961-8
Pantel J, Machinis K, Sobrier ML, et al. (2000) Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. The Journal of Biological Chemistry. 275: 18664-9