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208 results

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Page 1
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Mariathasan S, Andrews KA, Thompson E, Challis BG, Wilcox S, Pierce H, Hale J, Spiden S, Fuller G, Simpson HL, Fish B, Jani P, Seetho I, Armstrong R, Izatt L, Joshi M, Velusamy A, Park SM, Casey RT. Mariathasan S, et al. Among authors: izatt l. Clin Endocrinol (Oxf). 2020 Oct;93(4):409-418. doi: 10.1111/cen.14254. Epub 2020 Jun 12. Clin Endocrinol (Oxf). 2020. PMID: 32430905
Large genomic deletions in AIP in pituitary adenoma predisposition.
Georgitsi M, Heliövaara E, Paschke R, Kumar AV, Tischkowitz M, Vierimaa O, Salmela P, Sane T, De Menis E, Cannavò S, Gündogdu S, Lucassen A, Izatt L, Aylwin S, Bano G, Hodgson S, Koch CA, Karhu A, Aaltonen LA. Georgitsi M, et al. Among authors: izatt l. J Clin Endocrinol Metab. 2008 Oct;93(10):4146-51. doi: 10.1210/jc.2008-1003. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628514
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.
Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, Elford S, Hughes IA, Izatt L, Krone N, Miles HL, O'Toole S, Perry L, Sanders C, Simmonds M, Wallace AM, Watt A, Willis D. Ahmed SF, et al. Among authors: izatt l. Clin Endocrinol (Oxf). 2011 Jul;75(1):12-26. doi: 10.1111/j.1365-2265.2011.04076.x. Clin Endocrinol (Oxf). 2011. PMID: 21521344 Free PMC article.
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG, Srirangalingam U, Chew SL, Evans DG, Hodgson SV, Irving R, Woodward E, Macdonald F, Maher ER. Jafri M, et al. Among authors: izatt l. Clin Endocrinol (Oxf). 2013 Jun;78(6):898-906. doi: 10.1111/cen.12074. Epub 2013 Apr 6. Clin Endocrinol (Oxf). 2013. PMID: 23072324
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV. Hannan FM, et al. Among authors: izatt l. Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. Hum Mol Genet. 2015. PMID: 26082470 Free PMC article.
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).
Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, Elford S, Hughes IA, Izatt L, Krone N, Miles H, O'Toole S, Perry L, Sanders C, Simmonds M, Watt A, Willis D. Ahmed SF, et al. Among authors: izatt l. Clin Endocrinol (Oxf). 2016 May;84(5):771-88. doi: 10.1111/cen.12857. Epub 2015 Aug 13. Clin Endocrinol (Oxf). 2016. PMID: 26270788 Free PMC article.
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Casey RT, Ascher DB, Rattenberry E, Izatt L, Andrews KA, Simpson HL, Challis B, Park SM, Bulusu VR, Lalloo F, Pires DEV, West H, Clark GR, Smith PS, Whitworth J, Papathomas TG, Taniere P, Savisaar R, Hurst LD, Woodward ER, Maher ER. Casey RT, et al. Among authors: izatt l. Mol Genet Genomic Med. 2017 Mar 2;5(3):237-250. doi: 10.1002/mgg3.279. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546994 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: izatt l. 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.
208 results