Detalhe da pesquisa
1.
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Am J Med Genet A
; 194(4): e63498, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38129970
2.
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
Am J Med Genet A
; 185(7): 2131-2135, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33755318
3.
Angiocentric glioma of brainstem.
Neurosciences (Riyadh)
; 25(5): 416-420, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33459294
4.
Infantile atypical subependymal giant cell astrocytoma.
Neurosciences (Riyadh)
; 25(1): 61-64, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31982898
5.
Central Nervous System Brucellosis Granuloma and White Matter Disease in Immunocompromised Patient.
Emerg Infect Dis
; 23(6): 978-981, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28518039
6.
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Am J Hum Genet
; 93(4): 721-6, 2013 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-24075186
7.
Classical V600E and other non-hotspot BRAF mutations in adult differentiated thyroid cancer.
J Transl Med
; 14(1): 204, 2016 07 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27387551
8.
Comparison of differentiated thyroid cancer in children and adolescents (≤20 years) with young adults.
Clin Endocrinol (Oxf)
; 84(4): 571-7, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26118454
9.
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
J Med Genet
; 52(3): 186-94, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25539947
10.
LncRNA GAS8-AS1 dinucleotide genetic variantn.713A>G, n.714T>C is associated with early-stage disease, lymph node, and distant metastasis in differentiated thyroid cancer.
Endocrine
; 2024 Apr 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38580894
11.
EPAS-1-related pheochromocytoma/paraganglioma: How common and how aggressive?
Endocr Relat Cancer
; 2024 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38767322
12.
Clinical and biochemical features associated with BCS1L mutation.
J Inherit Metab Dis
; 36(5): 813-20, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22991165
13.
Thyroid Cancer, Neuroendocrine Tumor, Adrenal Adenoma, and Other Tumors in a Patient With a Germline PMS1 Mutation.
J Endocr Soc
; 7(5): bvad035, 2023 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37143695
14.
Molecular Genetics of Diffuse Sclerosing Papillary Thyroid Cancer.
J Clin Endocrinol Metab
; 108(9): e704-e711, 2023 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36995892
15.
The impact of thyroid imaging reporting and data system on the management of Bethesda III thyroid nodules.
J Taibah Univ Med Sci
; 18(3): 506-511, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36818179
16.
An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma.
Front Endocrinol (Lausanne)
; 14: 1273093, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38152133
17.
A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome.
Front Oncol
; 13: 1034292, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36860324
18.
Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer.
J Clin Endocrinol Metab
; 107(9): 2539-2544, 2022 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35751867
19.
Papillary Thyroid Cancer and a TERT Promotor Mutation-positive Paraganglioma in a Patient With a Germline SDHB Mutation.
J Endocr Soc
; 6(7): bvac076, 2022 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35673401
20.
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant.
Front Genet
; 13: 885589, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35865014