Tenenbaum-Rakover Y - Search Results

1

A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.

Grasberger H, Van Sande J, Hag-Dahood Mahameed A, Tenenbaum-Rakover Y, Refetoff S. Grasberger H, et al. J Clin Endocrinol Metab. 2007 Jul;92(7):2816-20. doi: 10.1210/jc.2007-0366. Epub 2007 Apr 24. J Clin Endocrinol Metab. 2007. PMID: 17456567

2

Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.

Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S. Tenenbaum-Rakover Y, et al. Clin Endocrinol (Oxf). 2007 May;66(5):695-702. doi: 10.1111/j.1365-2265.2007.02804.x. Epub 2007 Mar 23. Clin Endocrinol (Oxf). 2007. PMID: 17381485

3

Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.

Hess O, Hujeirat Y, Wajnrajch MP, Allon-Shalev S, Zadik Z, Lavi I, Tenenbaum-Rakover Y. Hess O, et al. J Clin Endocrinol Metab. 2007 Nov;92(11):4387-93. doi: 10.1210/jc.2007-0684. Epub 2007 Sep 4. J Clin Endocrinol Metab. 2007. PMID: 17785368

4

Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.

Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, Ringkananont U, Montanelli L, Barkoff MS, Dahood AM, Refetoff S. Tenenbaum-Rakover Y, et al. J Clin Endocrinol Metab. 2009 May;94(5):1706-12. doi: 10.1210/jc.2008-1938. Epub 2009 Feb 24. J Clin Endocrinol Metab. 2009. PMID: 19240155 Free PMC article.

5

A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

Lietman SA, Tenenbaum-Rakover Y, Jap TS, Yi-Chi W, De-Ming Y, Ding C, Kussiny N, Levine MA. Lietman SA, et al. J Clin Endocrinol Metab. 2009 Nov;94(11):4372-9. doi: 10.1210/jc.2008-2484. Epub 2009 Sep 29. J Clin Endocrinol Metab. 2009. PMID: 19789209 Free PMC article.

6

The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.

Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S. Sriphrapradang C, et al. J Clin Endocrinol Metab. 2011 Jun;96(6):E1001-6. doi: 10.1210/jc.2011-0127. Epub 2011 Apr 13. J Clin Endocrinol Metab. 2011. PMID: 21490078 Free PMC article.

7

Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.

Tenenbaum-Rakover Y, Almashanu S, Hess O, Admoni O, Hag-Dahood Mahameed A, Schwartz N, Allon-Shalev S, Bercovich D, Refetoff S. Tenenbaum-Rakover Y, et al. Thyroid. 2015 Mar;25(3):292-9. doi: 10.1089/thy.2014.0311. Epub 2015 Jan 28. Thyroid. 2015. PMID: 25557138 Free PMC article.

8

Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54.

Tenenbaum-Rakover Y, Commenges-Ducos M, Iovane A, Aumas C, Admoni O, de Roux N. Tenenbaum-Rakover Y, et al. J Clin Endocrinol Metab. 2007 Mar;92(3):1137-44. doi: 10.1210/jc.2006-2147. Epub 2006 Dec 12. J Clin Endocrinol Metab. 2007. PMID: 17164310

9

The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

Derr MA, Aisenberg J, Fang P, Tenenbaum-Rakover Y, Rosenfeld RG, Hwa V. Derr MA, et al. J Clin Endocrinol Metab. 2011 Nov;96(11):E1896-904. doi: 10.1210/jc.2011-1597. Epub 2011 Sep 7. J Clin Endocrinol Metab. 2011. PMID: 21900382

10

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.

Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y. Admoni O, et al. Clin Endocrinol (Oxf). 2006 Jun;64(6):645-51. doi: 10.1111/j.1365-2265.2006.02521.x. Clin Endocrinol (Oxf). 2006. PMID: 16712666

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