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Page 1
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Casey RT, Warren AY, Martin JE, Challis BG, Rattenberry E, Whitworth J, Andrews KA, Roberts T, Clark GR, West H, Smith PS, Docquier FM, Rodger F, Murray V, Simpson HL, Wallis Y, Giger O, Tran M, Tomkins S, Stewart GD, Park SM, Woodward ER, Maher ER. Casey RT, et al. Among authors: park sm. J Clin Endocrinol Metab. 2017 Nov 1;102(11):4013-4022. doi: 10.1210/jc.2017-00562. J Clin Endocrinol Metab. 2017. PMID: 28973655 Free PMC article. Review.
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N. Nicholas AK, et al. Among authors: park sm. J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. doi: 10.1210/jc.2016-1879. Epub 2016 Aug 15. J Clin Endocrinol Metab. 2016. PMID: 27525530 Free PMC article.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER. Andrews KA, et al. Among authors: park sm. J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. J Med Genet. 2018. PMID: 29386252 Free PMC article.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz MD, Maher ER. Whitworth J, et al. Among authors: park sm. Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909963 Free PMC article.
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.
Casey RT, McLean MA, Madhu B, Challis BG, Ten Hoopen R, Roberts T, Clark GR, Pittfield D, Simpson HL, Bulusu VR, Allinson K, Happerfield L, Park SM, Marker A, Giger O, Maher ER, Gallagher FA. Casey RT, et al. Among authors: park sm. JCO Precis Oncol. 2018 Mar 29;2:1-12. doi: 10.1200/PO.17.00191. JCO Precis Oncol. 2018. PMID: 30949620 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Truelove A, Mulay A, Prapa M, Casey RT, Adler AI, Offiah AC, Poole KES, Trotman J, Al Hasso N, Park SM. Truelove A, et al. Among authors: park sm. Am J Med Genet A. 2019 Jul;179(7):1330-1337. doi: 10.1002/ajmg.a.61163. Epub 2019 May 1. Am J Med Genet A. 2019. PMID: 31041856 Free article.
Management of primary hyperparathyroidism in pregnancy: a case series.
McCarthy A, Howarth S, Khoo S, Hale J, Oddy S, Halsall D, Fish B, Mariathasan S, Andrews K, Oyibo SO, Samyraju M, Gajewska-Knapik K, Park SM, Wood D, Moran C, Casey RT. McCarthy A, et al. Among authors: park sm. Endocrinol Diabetes Metab Case Rep. 2019 May 16;2019:19-0039. doi: 10.1530/EDM-19-0039. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2019. PMID: 31096181 Free PMC article.
2,444 results