Ten SB - Search Results

1

Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.

Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U, Dias R, Savage MO, Metherell LA, Storr HL. Chatterjee S, et al. Among authors: ten sb. Eur J Endocrinol. 2018 May;178(5):481-489. doi: 10.1530/EJE-18-0042. Epub 2018 Mar 2. Eur J Endocrinol. 2018. PMID: 29500309

2

An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.

David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJ, Savage MO, Metherell LA. David A, et al. J Clin Endocrinol Metab. 2007 Feb;92(2):655-9. doi: 10.1210/jc.2006-1527. Epub 2006 Dec 5. J Clin Endocrinol Metab. 2007. PMID: 17148568

3

Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature.

Bhangoo A, Wilson R, New MI, Ten S. Bhangoo A, et al. J Pediatr Endocrinol Metab. 2006 Oct;19(10):1267-82. doi: 10.1515/jpem.2006.19.10.1267. J Pediatr Endocrinol Metab. 2006. PMID: 17172090

4

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT. Alatzoglou KS, et al. J Clin Endocrinol Metab. 2009 Sep;94(9):3191-9. doi: 10.1210/jc.2008-2783. Epub 2009 Jun 30. J Clin Endocrinol Metab. 2009. PMID: 19567534

5

Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.

Bhangoo AP, Hunter CS, Savage JJ, Anhalt H, Pavlakis S, Walvoord EC, Ten S, Rhodes SJ. Bhangoo AP, et al. J Clin Endocrinol Metab. 2006 Mar;91(3):747-53. doi: 10.1210/jc.2005-2360. Epub 2006 Jan 4. J Clin Endocrinol Metab. 2006. PMID: 16394081

6

Phenotypic variations in lipoid congenital adrenal hyperplasia.

Bhangoo A, Anhalt H, Ten S, King SR. Bhangoo A, et al. Pediatr Endocrinol Rev. 2006 Mar;3(3):258-71. Pediatr Endocrinol Rev. 2006. PMID: 16639391

7

Phenotypic features of 46, XX females with StAR protein mutations.

Bhangoo A, Buyuk E, Oktay K, Ten S. Bhangoo A, et al. Pediatr Endocrinol Rev. 2007 Dec;5(2):633-41. Pediatr Endocrinol Rev. 2007. PMID: 18084157 Review.

8

Treatment perspectives in idiopathic short stature with a focus on IGF-I deficiency.

Rosenthal S, Cohen P, Clayton P, Backeljauw P, Bang P, Ten S. Rosenthal S, et al. Pediatr Endocrinol Rev. 2007 May;4 Suppl 2:252-71. Pediatr Endocrinol Rev. 2007. PMID: 17581497 Review. No abstract available.

9

Phenotypic features associated with mutations in steroidogenic acute regulatory protein.

Bhangoo A, Gu WX, Pavlakis S, Anhalt H, Heier L, Ten S, Jameson JL. Bhangoo A, et al. J Clin Endocrinol Metab. 2005 Nov;90(11):6303-9. doi: 10.1210/jc.2005-0434. Epub 2005 Aug 23. J Clin Endocrinol Metab. 2005. PMID: 16118340

10

Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD.

Sinha SK, Bhangoo A, Ten S, Gromoll J. Sinha SK, et al. Adv Exp Med Biol. 2011;707:147-8. doi: 10.1007/978-1-4419-8002-1_32. Adv Exp Med Biol. 2011. PMID: 21691974 No abstract available.

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