Bianco SD - Search Results

1

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.

Bianco SD, Kaiser UB. Bianco SD, et al. Nat Rev Endocrinol. 2009 Oct;5(10):569-76. doi: 10.1038/nrendo.2009.177. Epub 2009 Aug 25. Nat Rev Endocrinol. 2009. PMID: 19707180 Free PMC article. Review.

2

KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation.

Bianco SD, Vandepas L, Correa-Medina M, Gereben B, Mukherjee A, Kuohung W, Carroll R, Teles MG, Latronico AC, Kaiser UB. Bianco SD, et al. Endocrinology. 2011 Apr;152(4):1616-26. doi: 10.1210/en.2010-0903. Epub 2011 Feb 1. Endocrinology. 2011. PMID: 21285314 Free PMC article.

3

Mutations of the KISS1 gene in disorders of puberty.

Silveira LG, Noel SD, Silveira-Neto AP, Abreu AP, Brito VN, Santos MG, Bianco SD, Kuohung W, Xu S, Gryngarten M, Escobar ME, Arnhold IJ, Mendonca BB, Kaiser UB, Latronico AC. Silveira LG, et al. Among authors: bianco sd. J Clin Endocrinol Metab. 2010 May;95(5):2276-80. doi: 10.1210/jc.2009-2421. Epub 2010 Mar 17. J Clin Endocrinol Metab. 2010. PMID: 20237166 Free PMC article.

4

A GPR54-activating mutation in a patient with central precocious puberty.

Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC. Teles MG, et al. Among authors: bianco sd. N Engl J Med. 2008 Feb 14;358(7):709-15. doi: 10.1056/NEJMoa073443. N Engl J Med. 2008. PMID: 18272894 Free PMC article.

5

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

Chan YM, Broder-Fingert S, Paraschos S, Lapatto R, Au M, Hughes V, Bianco SD, Min L, Plummer L, Cerrato F, De Guillebon A, Wu IH, Wahab F, Dwyer A, Kirsch S, Quinton R, Cheetham T, Ozata M, Ten S, Chanoine JP, Pitteloud N, Martin KA, Schiffmann R, Van der Kamp HJ, Nader S, Hall JE, Kaiser UB, Seminara SB. Chan YM, et al. Among authors: bianco sd. J Clin Endocrinol Metab. 2011 Nov;96(11):E1771-81. doi: 10.1210/jc.2011-0518. Epub 2011 Aug 31. J Clin Endocrinol Metab. 2011. PMID: 21880801 Free PMC article.

6

A potential mechanism for the sexual dimorphism in the onset of puberty and incidence of idiopathic central precocious puberty in children: sex-specific kisspeptin as an integrator of puberty signals.

Bianco SD. Bianco SD. Front Endocrinol (Lausanne). 2012 Dec 13;3:149. doi: 10.3389/fendo.2012.00149. eCollection 2012. Front Endocrinol (Lausanne). 2012. PMID: 23248615 Free PMC article.

7

Mutagenesis and analysis of genetic mutations in the GC-rich KISS1 receptor sequence identified in humans with reproductive disorders.

Madeira da Silva L, Vandepas L, Bianco SD. Madeira da Silva L, et al. Among authors: bianco sd. J Vis Exp. 2011 Sep 4;(55):e2897. doi: 10.3791/2897. J Vis Exp. 2011. PMID: 21912371 Free PMC article.

8

Expression of uncoupling protein 1 in mouse brown adipose tissue is thyroid hormone receptor-beta isoform specific and required for adaptive thermogenesis.

Ribeiro MO, Bianco SD, Kaneshige M, Schultz JJ, Cheng SY, Bianco AC, Brent GA. Ribeiro MO, et al. Among authors: bianco sd, bianco ac. Endocrinology. 2010 Jan;151(1):432-40. doi: 10.1210/en.2009-0667. Epub 2009 Nov 11. Endocrinology. 2010. PMID: 19906816 Free PMC article.

9

Targeted deletion of one or two copies of the G protein β subunit Gβ5 gene has distinct effects on body weight and behavior in mice.

Wang Q, Levay K, Chanturiya T, Dvoriantchikova G, Anderson KL, Bianco SD, Ueta CB, Molano RD, Pileggi A, Gurevich EV, Gavrilova O, Slepak VZ. Wang Q, et al. Among authors: bianco sd. FASEB J. 2011 Nov;25(11):3949-57. doi: 10.1096/fj.11-190157. Epub 2011 Jul 30. FASEB J. 2011. PMID: 21804131 Free PMC article.

10

Human diseases associated with GPR54 mutations.

Teles MG, Silveira LF, Bianco S, Latronico AC. Teles MG, et al. Prog Mol Biol Transl Sci. 2009;88:33-56. doi: 10.1016/S1877-1173(09)88002-2. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374724 Review.

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