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Lumbroso, S.

( S. Lumbroso)


mutation receptor patient protein level endocrinol hormone leydig expression ovary cycle follicle mccune-albright syndrome metab syndrome library erasmus mc result mccune-albright luteinizing study lhr gene leydig cell hypoplasia binding lhr protein development phenotype transfected wt-lhr leydig cell adenoma activity wild-type analysis right ovary leydig cell hyperplasia erasmu themmen 578h mutation absence gonadotropin luteinizing hormone receptor addition splice downloaded cells transfected right puberty cause signal fraction function lh receptor processing surface erasmus university rotterdam hyperplasia minigene membrane phase university november adenoma signal transduction pathways localization product endometrial transduction serum control tissue wild-type lhr department sister inhibin caveolae concentration plasmid pathway 44/42 exon 11 range netherland




5 Most Recent Publications

Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene (Article)
Boot, A.M. Lumbroso, S. Verhoef-Post, M. Richter-Unruh, A. Looijenga, L.H.J. Funaro, A. Beishuizen, A. Van Marle, A. Drop, S.L.S. Themmen, A.P.N.
2011-07-01
A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister (Article)
Bruysters, M.W.P. Christin-Maitre, S. Verhoef-Post, M. Sultan, C. Auger, J. Faugeron, I. Larue, L. Lumbroso, S. Themmen, A.P.N. Bouchard, P.
2008-08-01
Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome (Article)
Laven, J.S.E. Lumbroso, S. Sultan, C. Fauser, B.C.J.M.
2004-01-01
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency (Article)
Martens, J.W.M. Lumbroso, S. Verhoef-Post, M. Georget, V. Richter-Unruh, A. Szarras-Czapnik, M. Romer, T.E. Brunner, H.G. Themmen, A.P.N. Sultan, Ch.
2002-01-01
Dynamics of ovarian function in an adult woman with McCune--Albright syndrome (Article)
Laven, J.S.E. Lumbroso, S. Sultan, C. Fauser, B.C.J.M.
2001-01-01
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