Publications by authors named "Ajith V Kumar"

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Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Paul Benjamin Loughrey, Nadira B Mothojakan, Donato Iacovazzo, Ankit Arni, Elena D Aflorei, Ajith V Kumar, Chandan Kumar-Sinha

Eur J Endocrinol· March 2025

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An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.
Nicola Tufton, Lucy Shapiro, Anju Sahdev, Ajith V Kumar, Lee Martin

Endocr Connect· March 2019

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A novel DICER1 mutation in familial multinodular goitre.
Francisca Caimari, Ajith V Kumar, Thomas Kurzawinski, Gary Butler, Nelly Sabbaghian

Clin Endocrinol (Oxf)· July 2018

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Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an Mutation-Positive Family.
Pedro Marques, Sayka Barry, Amy Ronaldson, Arla Ogilvie, Helen L Storr, Ajith V Kumar

Int J Endocrinol· April 2018

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Clinical and molecular characterization of -related severe early-onset epilepsy.
Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Ajith V Kumar

Neurology· January 2018

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mutated paragangliomas may be at high risk of metastasis.
Nicola Tufton, Rahul Ghelani, Umasuthan Srirangalingam, Ajith V Kumar, William M Drake

Endocr Relat Cancer· July 2017

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Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.
Nicola Tufton, Lucy Shapiro, Umasuthan Srirangalingam, Polly Richards, Anju Sahdev, Ajith V Kumar

Clin Endocrinol (Oxf)· February 2017

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Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Serban Radian, Yoan Diekmann, Plamena Gabrovska, Brendan Holland, Lisa Bradley, Ajith V Kumar

Hum Mutat· January 2017

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Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.
Fred Williams, Steven Hunter, Lisa Bradley, Harvinder S Chahal, Helen L Storr, Ajith V Kumar

J Clin Endocrinol Metab· April 2014

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Mitral Stenosis, LV Aneurysm, Myocardial Bridge, and Myocardial Infarction: The Mystery Demystified.
Amit Kumar Chaurasia, Sivadasanpillai Harikrishnan, Valaparambil Kumar Ajith, Jagan Mohan Tharakan

Int Cardiovasc Res J· September 2013

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A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Eleanor Rattenberry, Lindsey Vialard, Anna Yeung, Hayley Bair, Kirsten McKay, Ajith V Kumar

J Clin Endocrinol Metab· July 2013

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Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Mariam Jafri, James Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Ajith V Kumar

Clin Endocrinol (Oxf)· June 2013

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Familial pituitary adenomas - who should be tested for AIP mutations?
Márta Korbonits, Helen Storr, Ajith V Kumar

Clin Endocrinol (Oxf)· September 2012

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AIP mutation in pituitary adenomas in the 18th century and today.
Harvinder S Chahal, Karen Stals, Martina Unterländer, David J Balding, Mark G Thomas, Ajith V Kumar

N Engl J Med· January 2011

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Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
Susana Igreja, Harvinder S Chahal, Peter King, Graeme B Bolger, Umasuthan Srirangalingam, Ajith V Kumar

Hum Mutat· August 2010

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A novel protein that binds to dnrN-dnrO intergenic region of Streptomyces peucetius purified by DNA affinity capture has dihydrolipoamide dehydrogenase activity.
Vasantha Kumar Ajith, Ranjan Prasad

Protein Expr Purif· October 2009

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Large genomic deletions in AIP in pituitary adenoma predisposition.
Marianthi Georgitsi, Elina Heliövaara, Ralf Paschke, Ajith V K Kumar, Marc Tischkowitz

J Clin Endocrinol Metab· October 2008

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