Detalhe da pesquisa
1.
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.
Proc Natl Acad Sci U S A
; 119(45): e2212417119, 2022 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322731
2.
Mast Cell Activation Syndrome: current understanding and research needs.
J Allergy Clin Immunol
; 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38851398
3.
Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion.
Neurosurg Rev
; 47(1): 27, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38163828
4.
Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors.
J Genet Couns
; 2023 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37984420
5.
Longitudinal analysis of symptoms in the Ehlers-Danlos syndromes.
Am J Med Genet A
; 188(4): 1204-1213, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994522
6.
Respiratory manifestations in the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 187(4): 533-548, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34811894
7.
The power of patient-led global collaboration.
Am J Med Genet C Semin Med Genet
; 187(4): 425-428, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741496
8.
A case-control study of respiratory medication and co-occurring gastrointestinal prescription burden among persons with Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 187(4): 549-560, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34766427
9.
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers-Danlos syndromes and hypermobility spectrum disorders.
Am J Med Genet C Semin Med Genet
; 187(4): 609-615, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821464
10.
Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey.
Am J Med Genet C Semin Med Genet
; 187(4): 416-424, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34524722
11.
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet
; 102(4): 696-705, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29606302
12.
Victor Almon McKusick: In the footsteps of Mendel and Osler.
Am J Med Genet A
; 185(11): 3193-3201, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34463023
13.
Atlanto-axial rotary instability (Fielding type 1): characteristic clinical and radiological findings, and treatment outcomes following alignment, fusion, and stabilization.
Neurosurg Rev
; 44(3): 1553-1568, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623537
14.
Defining renal phenotype in Alström syndrome.
Nephrol Dial Transplant
; 35(6): 994-1001, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30307515
15.
Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study.
Am J Med Genet A
; 179(3): 397-403, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30624009
16.
Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.
Am J Med Genet A
; 179(4): 552-560, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706611
17.
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Am J Med Genet A
; 179(4): 561-569, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30703284
18.
Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes.
Am J Med Genet A
; 176(9): 1858-1864, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178919
19.
Evolving Attitudes Toward Numeric Pain Assessment Among Patients with Hypermobile Ehlers-Danlos Syndrome: A Qualitative Interview Study.
Pain Med
; 24(6): 713-715, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322007
20.
The international consortium on the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 5-7, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306227