Detalhe da pesquisa
1.
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Hum Mutat
; 38(1): 78-85, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27650164
2.
Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.
Clin Endocrinol (Oxf)
; 86(2): 286-296, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27678251
3.
AIP mutation in pituitary adenomas in the 18th century and today.
N Engl J Med
; 364(1): 43-50, 2011 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-21208107
4.
A novel DICER1 mutation in familial multinodular goitre.
Clin Endocrinol (Oxf)
; 89(1): 110-112, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29633305
5.
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Clin Endocrinol (Oxf)
; 78(6): 898-906, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23072324
6.
Familial pituitary adenomas - who should be tested for AIP mutations?
Clin Endocrinol (Oxf)
; 77(3): 351-6, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22612670
7.
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
Hum Mutat
; 31(8): 950-60, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20506337
8.
An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.
Endocr Connect
; 8(3): 162-172, 2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30694796
9.
Large genomic deletions in AIP in pituitary adenoma predisposition.
J Clin Endocrinol Metab
; 93(10): 4146-51, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18628514
10.
Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family.
Int J Endocrinol
; 2018: 8581626, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29849625
11.
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology
; 90(1): e55-e66, 2018 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29196579
12.
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.
J Clin Endocrinol Metab
; 99(4): 1122-31, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24423289
13.
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
J Clin Endocrinol Metab
; 98(7): E1248-56, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23666964
14.
SDHA mutated paragangliomas may be at high risk of metastasis.
Endocr Relat Cancer
; 24(7): L43-L49, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28500238