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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-58
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- Article
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
- Published in:
- 2013
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- Publication type:
- journal article
Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 4, p. 982, doi. 10.3390/ijms19040982
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- Article
GLUT10--Lacking in Arterial Tortuosity Syndrome--Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1820, doi. 10.3390/ijms18081820
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- Article
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 43, doi. 10.1002/ajmg.c.31425
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- Article
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 6, doi. 10.1002/ajmg.c.31429
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- Article
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 174, doi. 10.1002/ajmg.a.63426
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- Article
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 169, doi. 10.1002/ajmg.a.38004
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- Publication type:
- Article
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3010, doi. 10.1002/ajmg.a.36805
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- Article
Recurring and Generalized Visceroptosis in Ehlers- Danlos Syndrome Hypermobility Type.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1143, doi. 10.1002/ajmg.a.35825
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- Publication type:
- Article
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1164, doi. 10.1002/ajmg.a.35266
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- Article
MURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma Tumors and Its Silencing Prevents Myogenic Differentiation in the Human Embryonal RD Cell Line.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130287
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- Article
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention.
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- Journal of Clinical Medicine, 2024, v. 13, n. 14, p. 4255, doi. 10.3390/jcm13144255
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- Article
Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 287, doi. 10.1111/cge.13653
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- Article
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
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- 2020
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- Publication type:
- journal article
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6769, doi. 10.1093/hmg/ddv382
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- Publication type:
- Article
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.
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- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161347
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- Publication type:
- Article
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms
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- Cells (2073-4409), 2022, v. 11, n. 24, p. 4040, doi. 10.3390/cells11244040
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- Article
Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 11, p. 3236, doi. 10.3390/cells10113236
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- Article
Glucose transporter type 10--lacking in arterial tortuosity syndrome--facilitates dehydroascorbic acid transport.
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- FEBS Letters, 2016, v. 590, n. 11, p. 1630, doi. 10.1002/1873-3468.12204
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- Article
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
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- Genes, 2019, v. 10, n. 9, p. 631, doi. 10.3390/genes10090631
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- Publication type:
- Article
Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.
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- Genes, 2019, v. 10, n. 8, p. 609, doi. 10.3390/genes10080609
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- Article
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.
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- Genes, 2019, v. 10, n. 2, p. 135, doi. 10.3390/genes10020135
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- Publication type:
- Article
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts.
- Published in:
- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211647
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- Publication type:
- Article
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.
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- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191220
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- Publication type:
- Article
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0122-5
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- Article
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0091-8
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- Publication type:
- Article
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-3
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- Publication type:
- Article