Search details
1.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
J Med Genet
; 61(3): 232-238, 2024 Feb 21.
Article
in English
| MEDLINE | ID: mdl-37813462
2.
Skin fragility and wound management in Ehlers- Danlos Syndrome: a report by the Ehlers Danlos Syndrome society skin working group.
Clin Exp Dermatol
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38767179
3.
Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.
J Am Acad Dermatol
; 89(3): 551-559, 2023 09.
Article
in English
| MEDLINE | ID: mdl-36764582
4.
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
J Med Genet
; 57(11): 769-776, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32467296
5.
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.
Article
in English
| MEDLINE | ID: mdl-32572181
6.
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.
Article
in English
| MEDLINE | ID: mdl-32091183
7.
Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
Acta Derm Venereol
; 100(7): adv00092, 2020 Mar 25.
Article
in English
| MEDLINE | ID: mdl-32147746
8.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am J Hum Genet
; 99(5): 1005-1014, 2016 Nov 03.
Article
in English
| MEDLINE | ID: mdl-27745832
9.
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.
Article
in English
| MEDLINE | ID: mdl-30837697
10.
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.
Article
in English
| MEDLINE | ID: mdl-28617417
11.
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 8-26, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28306229
12.
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.
Article
in English
| MEDLINE | ID: mdl-27011056
13.
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.
Article
in English
| MEDLINE | ID: mdl-25846194
14.
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Am J Med Genet A
; 164A(2): 386-91, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24311407
15.
Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.
Am J Med Genet A
; 161A(5): 1122-5, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23495203
16.
The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.
Skin Health Dis
; 3(1): e140, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36751332
17.
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.
Genes (Basel)
; 10(10)2019 09 27.
Article
in English
| MEDLINE | ID: mdl-31569816
18.
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.
J Invest Dermatol
; 124(6): 1193-9, 2005 Jun.
Article
in English
| MEDLINE | ID: mdl-15955094
19.
Unexpected ultrastructral changes in bone osteiod collagens in osteogenesis imperfecta.
Micron
; 36(7-8): 696-702, 2005.
Article
in English
| MEDLINE | ID: mdl-16182545
20.
Ehlers-Danlos syndrome type IV in a young man.
J Rheumatol
; 33(10): 2091-6, 2006 Oct.
Article
in English
| MEDLINE | ID: mdl-17014025