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Trevor R Cole

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Articles 9
Citations 509
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Recent Articles
1.
Lippincott M, Leon S, Chan Y, Fergani C, Talbi R, Farooqi I, et al.
J Clin Endocrinol Metab . 2019 May; 104(10):4304-4318. PMID: 31132118
Context: Kisspeptin-neurokinin B (NKB)-dynorphin neurons are critical regulators of the hypothalamic-pituitary-gonadal axis. NKB and dynorphin are hypothesized to influence the frequency of GnRH pulses, whereas kisspeptin is hypothesized to be...
2.
Xu C, Messina A, Somm E, Miraoui H, Kinnunen T, Acierno Jr J, et al.
EMBO Mol Med . 2017 Jul; 9(10):1379-1397. PMID: 28754744
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin-releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 () is the...
3.
Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, et al.
J Clin Endocrinol Metab . 2013 May; 98(7):E1248-56. PMID: 23666964
Context: Pheochromocytomas and paragangliomas are notable for a high frequency of inherited cases, many of which present as apparently sporadic tumors. Objective: The objective of this study was to establish...
4.
Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar A, et al.
Clin Endocrinol (Oxf) . 2012 Oct; 78(6):898-906. PMID: 23072324
Objectives: Research studies have reported that about a third of individuals with phaeochromocytoma/paraganglioma (PPGL) have an inherited predisposition, although the frequency of specific mutations can vary between populations. We evaluated...
5.
Krone N, Reisch N, Idkowiak J, Dhir V, Ivison H, Hughes B, et al.
J Clin Endocrinol Metab . 2011 Dec; 97(2):E257-67. PMID: 22162478
Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations...
6.
Gianetti E, Tusset C, Noel S, Au M, Dwyer A, Hughes V, et al.
J Clin Endocrinol Metab . 2010 Mar; 95(6):2857-67. PMID: 20332248
Context: Mutations in TAC3 and TACR3 (encoding neurokinin B and its receptor) have been identified in Turkish patients with idiopathic hypogonadotropic hypogonadism (IHH), but broader populations have not yet been...
7.
Parajes S, Loidi L, Reisch N, Dhir V, Rose I, Hampel R, et al.
J Clin Endocrinol Metab . 2010 Jan; 95(2):779-88. PMID: 20089618
Context: Steroid 11beta-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase...
8.
Ricketts C, Forman J, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, et al.
Hum Mutat . 2009 Oct; 31(1):41-51. PMID: 19802898
Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL), and other tumor types. We report tumor risks in...
9.
De Vos M, Hayward B, Charlton R, Taylor G, Glaser A, Picton S, et al.
J Natl Cancer Inst . 2006 Mar; 98(5):358-61. PMID: 16507833
Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus. New studies have shown, however, that earlier analyses of this gene have...