Detalhe da pesquisa
1.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
J Med Genet
; 61(3): 232-238, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37813462
2.
Ehlers-Danlos syndromes: importance of defining the type.
Pract Neurol
; 24(2): 90-97, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160052
3.
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Clin Exp Rheumatol
; 40 Suppl 134(5): 46-62, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587586
4.
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
J Clin Periodontol
; 49(12): 1244-1252, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833531
5.
Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.
Genet Med
; 23(2): 316-322, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33005042
6.
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
J Med Genet
; 57(11): 769-776, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467296
7.
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Genet Med
; 22(10): 1576-1582, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572181
8.
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Am J Med Genet A
; 182(5): 994-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32091183
9.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319732
10.
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Genet Med
; 21(9): 2081-2091, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30837697
11.
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
Hum Mol Genet
; 25(9): 1824-35, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908619
12.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Genet Med
; 20(1): 42-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617417
13.
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Am J Med Genet A
; 176(5): 1108-1114, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383814
14.
The Ehlers-Danlos syndromes, rare types.
Am J Med Genet C Semin Med Genet
; 175(1): 70-115, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306225
15.
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 8-26, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306229
16.
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Circulation
; 142(10): 1021-1024, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897753
17.
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
Am J Hum Genet
; 93(6): 1135-42, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290375
18.
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genet Med
; 18(11): 1119-1127, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27011056
19.
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
Am J Med Genet A
; 167A(8): 1763-72, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846194
20.
Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants.
Front Genet
; 14: 1148224, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37144134