E. Khallouf

发表

Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13

J. Papp, E. Sobel, M. Lathrop, 2001, Nature Genetics.

Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency

C. Levy-marchal, C. Vigouroux, J. Capeau, 2010 .

Human peroxisome proliferator-activated receptor-gamma2: genetic mapping, identification of a variant in the coding sequence, and exclusion as the gene responsible for lipoatrophic diabetes.

G. Gyapay, J. Weissenbach, J. Weissenbach, 1998, Diabetes.

Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.

C. Levy-marchal, C. Vigouroux, J. Capeau, 2010, The Journal of clinical endocrinology and metabolism.

Extremely low values of serum leptin in children with congenital generalized lipoatrophy.

P. Czernichow, C. Levy-marchal, D. Jaquet, 1999, European journal of endocrinology.

ESPE Bulletin Board

F. Santilli, K. Lindsten, E. Chouery, 2000, Hormone Research in Paediatrics.

Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.

Y. Chrétien, J. Capeau, M. Prot, 2009, Biochimie.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

P. Chanson, M. Polak, S. Lyonnet, 2019, Human mutation.

Mutational Analysis in Lebanese Patients with Congenital Adrenal Hyperplasia due to a Deficit in 21-Hydroxylase

E. Chouery, A. Mégarbané, J. Loiselet, 2000, Hormone Research in Paediatrics.

Genetic exclusion of 14 candidate genes in lipoatropic diabetes using linkage analysis in 10 consanguineous families.

J. Weissenbach, J. Weissenbach, C. Vigouroux, 1997, The Journal of clinical endocrinology and metabolism.