Detalhe da pesquisa
1.
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.
Blood
; 135(22): 1929-1945, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187362
2.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Genet Med
; 23(8): 1514-1521, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846581
3.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genet Med
; 23(10): 1933-1943, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172899
4.
Survivorship Issues in Adult Patients With Histiocytic Neoplasms.
J Natl Compr Canc Netw
; 19(11): 1312-1318, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34781266
5.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021519
6.
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation.
Eur Radiol
; 28(11): 4635-4642, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29736852
7.
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation.
Eur Radiol
; 28(9): 3751-3759, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556768
8.
Corrigendum to "Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation" [Radiology Case Reports 19 (2024) 1866-1871].
Radiol Case Rep
; 19(6): 2576-2577, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645546
9.
Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation.
Radiol Case Rep
; 19(5): 1866-1871, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425778
10.
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutation.
Clin Imaging
; 106: 110067, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128404
11.
Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.
Arthritis Rheumatol
; 76(1): 141-145, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561109
12.
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.
Mol Syndromol
; 12(1): 33-40, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33776625
13.
Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease.
Cancers (Basel)
; 13(16)2021 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34439280
14.
Neurological manifestations of Erdheim-Chester Disease.
Ann Clin Transl Neurol
; 7(4): 497-506, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227455
15.
Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease.
JAMA Netw Open
; 3(10): e2019169, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33119105
16.
Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheimâ»Chester Disease.
J Clin Med
; 7(9)2018 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30154360
17.
The clinical spectrum of Erdheim-Chester disease: an observational cohort study.
Blood Adv
; 1(6): 357-366, 2017 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28553668
18.
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities.
Mol Genet Genomic Med
; 4(3): 243-56, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27247952