Detalhe da pesquisa
1.
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
J Med Genet
; 61(4): 378-384, 2024 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37979962
2.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34270938
3.
Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update.
Histopathology
; 84(2): 266-278, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37609771
4.
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
J Med Genet
; 59(8): 785-792, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34452955
5.
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Clin Endocrinol (Oxf)
; 94(2): 277-289, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33098107
6.
Characterization of the ability of a, second-generation SST-DA chimeric molecule, TBR-065, to suppress GH secretion from human GH-secreting adenoma cells.
Pituitary
; 24(3): 351-358, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33433890
7.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
J Med Genet
; 57(11): 752-759, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31996412
8.
Somatotroph Tumors and the Epigenetic Status of the GNAS Locus.
Int J Mol Sci
; 22(14)2021 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34299200
9.
Parasellar Meningiomas.
Neuroendocrinology
; 110(9-10): 780-796, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32492684
10.
Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.
Hum Mutat
; 40(6): 661-674, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30869828
11.
Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.
J Pediatr
; 205: 281-285.e4, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30442414
12.
Psychological impact of von Hippel-Lindau genetic screening in patients with a previous history of hemangioblastoma of the central nervous system.
J Psychosoc Oncol
; 36(5): 624-634, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29764331
13.
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
N Engl J Med
; 371(25): 2363-74, 2014 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-25470569
14.
Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Langenbecks Arch Surg
; 402(5): 787-798, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28229225
15.
Prospective comparison of (68)Ga-DOTATATE and (18)F-FDOPA PET/CT in patients with various pheochromocytomas and paragangliomas with emphasis on sporadic cases.
Eur J Nucl Med Mol Imaging
; 43(7): 1248-57, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26637204
16.
Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas.
J Neurooncol
; 126(3): 473-81, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26514359
17.
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
Hum Mol Genet
; 22(10): 1940-8, 2013 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23376981
18.
Combined treatment by octreotide and everolimus: Octreotide enhances inhibitory effect of everolimus in aggressive meningiomas.
J Neurooncol
; 124(1): 33-43, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26015296
19.
18F-FDG PET/CT as a predictor of hereditary head and neck paragangliomas.
Eur J Clin Invest
; 44(3): 325-332, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24422786
20.
A cohort study of CNS tumors in Multiple Endocrine Neoplasia Type 1.
Clin Cancer Res
; 2024 Apr 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38630553