Cole T - Search Results

1

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM. Rainbow LA, et al. Among authors: cole t. Clin Endocrinol (Oxf). 2005 Feb;62(2):163-8. doi: 10.1111/j.1365-2265.2004.02189.x. Clin Endocrinol (Oxf). 2005. PMID: 15670191

2

Growth in Sotos syndrome.

Agwu JC, Shaw NJ, Kirk J, Chapman S, Ravine D, Cole TR. Agwu JC, et al. Among authors: cole tr. Arch Dis Child. 1999 Apr;80(4):339-42. doi: 10.1136/adc.80.4.339. Arch Dis Child. 1999. PMID: 10086939 Free PMC article.

3

A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.

Koulouri O, Nicholas AK, Schoenmakers E, Mokrosinski J, Lane F, Cole T, Kirk J, Farooqi IS, Chatterjee VK, Gurnell M, Schoenmakers N. Koulouri O, et al. Among authors: cole t. J Clin Endocrinol Metab. 2016 Mar;101(3):847-51. doi: 10.1210/jc.2015-3916. Epub 2016 Jan 6. J Clin Endocrinol Metab. 2016. PMID: 26735259 Free PMC article.

4

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.

Webb EA, Balasubramanian M, Fratzl-Zelman N, Cabral WA, Titheradge H, Alsaedi A, Saraff V, Vogt J, Cole T, Stewart S, Crabtree NJ, Sargent BM, Gamsjaeger S, Paschalis EP, Roschger P, Klaushofer K, Shaw NJ, Marini JC, Högler W. Webb EA, et al. Among authors: cole t. J Clin Endocrinol Metab. 2017 Jun 1;102(6):2019-2028. doi: 10.1210/jc.2016-3766. J Clin Endocrinol Metab. 2017. PMID: 28323974 Free PMC article.

5

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Hughes LA, McKay-Bounford K, Webb EA, Dasani P, Clokie S, Chandran H, McCarthy L, Mohamed Z, Kirk JMW, Krone NP, Allen S, Cole TRP. Hughes LA, et al. Among authors: cole trp. Endocr Connect. 2019 Feb;8(2):100-110. doi: 10.1530/EC-18-0376. Endocr Connect. 2019. PMID: 30668521 Free PMC article.

6

Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case.

Sabir AH, Ryan G, Mohammed Z, Kirk J, Kiely N, Thyagarajan M, Cole T. Sabir AH, et al. Among authors: cole t. Case Rep Genet. 2019 Dec 22;2019:1398250. doi: 10.1155/2019/1398250. eCollection 2019. Case Rep Genet. 2019. PMID: 31976094 Free PMC article.

7

General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care.

McCahon D, Holder R, Metcalfe A, Clifford S, Gill P, Cole T, Sleightholme HV, Wilson S. McCahon D, et al. Among authors: cole t. Clin Genet. 2009 Dec;76(6):544-51. doi: 10.1111/j.1399-0004.2009.01245.x. Epub 2009 Oct 8. Clin Genet. 2009. PMID: 19817773

8

Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients.

Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM, Ross RJ; United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE). Arlt W, et al. J Clin Endocrinol Metab. 2010 Nov;95(11):5110-21. doi: 10.1210/jc.2010-0917. Epub 2010 Aug 18. J Clin Endocrinol Metab. 2010. PMID: 20719839 Free PMC article.

9

Glucocorticoid treatment regimen and health outcomes in adults with congenital adrenal hyperplasia.

Han TS, Stimson RH, Rees DA, Krone N, Willis DS, Conway GS, Arlt W, Walker BR, Ross RJ; United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE). Han TS, et al. Clin Endocrinol (Oxf). 2013 Feb;78(2):197-203. doi: 10.1111/cen.12045. Clin Endocrinol (Oxf). 2013. PMID: 22998134

10

An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies.

Hameed R, Bissenden JG, Webb WR, Cole TR. Hameed R, et al. Among authors: cole tr. Clin Dysmorphol. 1999 Jul;8(3):199-202. Clin Dysmorphol. 1999. PMID: 10457854

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