Found: 56
Select item for more details and to access through your institution.
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
- By:
- Publication type:
- 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
- By:
- Publication type:
- journal article
COL6A5 variants in familial neuropathic chronic itch.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 4, p. 982, doi. 10.3390/ijms19040982
- By:
- Publication type:
- Article
GLUT10--Lacking in Arterial Tortuosity Syndrome--Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1820, doi. 10.3390/ijms18081820
- By:
- Publication type:
- Article
Arterial tortuosity in patients with spontaneous cervical artery dissection.
- Published in:
- Neuroradiology, 2017, v. 59, n. 6, p. 571, doi. 10.1007/s00234-017-1836-9
- By:
- Publication type:
- Article
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1562
- By:
- Publication type:
- Article
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1422
- By:
- Publication type:
- Article
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 43, doi. 10.1002/ajmg.c.31425
- By:
- Publication type:
- Article
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 6, doi. 10.1002/ajmg.c.31429
- By:
- Publication type:
- Article
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 174, doi. 10.1002/ajmg.a.63426
- By:
- Publication type:
- Article
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 524, doi. 10.1002/ajmg.a.38035
- By:
- Publication type:
- Article
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 200, doi. 10.1002/ajmg.a.37975
- By:
- Publication type:
- Article
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 169, doi. 10.1002/ajmg.a.38004
- By:
- Publication type:
- Article
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2031, doi. 10.1002/ajmg.a.37728
- By:
- 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.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3010, doi. 10.1002/ajmg.a.36805
- By:
- Publication type:
- Article
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 528, doi. 10.1002/ajmg.a.36301
- By:
- Publication type:
- Article
Recurring and Generalized Visceroptosis in Ehlers- Danlos Syndrome Hypermobility Type.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1143, doi. 10.1002/ajmg.a.35825
- By:
- Publication type:
- Article
Thoracic Aortic Aneurysm in Infancy in Aneurysms- Osteoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1028, doi. 10.1002/ajmg.a.35852
- By:
- Publication type:
- Article
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2176, doi. 10.1002/ajmg.a.35506
- By:
- 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.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1164, doi. 10.1002/ajmg.a.35266
- By:
- Publication type:
- Article
Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1216, doi. 10.1002/ajmg.a.35277
- By:
- Publication type:
- Article
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 8, p. 1133, doi. 10.1111/ddg.14786_g
- By:
- Publication type:
- Article
Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 8, p. 1133, doi. 10.1111/ddg.14786
- By:
- Publication type:
- Article
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 14, p. 4255, doi. 10.3390/jcm13144255
- By:
- Publication type:
- Article
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.
- Published in:
- Science Immunology, 2019, v. 4, n. 41, p. 1, doi. 10.1126/sciimmunol.aax7965
- By:
- Publication type:
- Article
COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 396, doi. 10.1111/cge.13683
- By:
- Publication type:
- Article
Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 287, doi. 10.1111/cge.13653
- By:
- Publication type:
- Article
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.735
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161347
- By:
- Publication type:
- Article
Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome.
- Published in:
- Endocrine (1355008X), 2019, v. 63, n. 2, p. 225, doi. 10.1007/s12020-018-1822-y
- By:
- Publication type:
- Article
Complications of Acute Stroke and the Occurrence of Early Seizures.
- Published in:
- Cerebrovascular Diseases, 2013, v. 35, n. 5, p. 444, doi. 10.1159/000348704
- By:
- 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
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 24, p. 4040, doi. 10.3390/cells11244040
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Glucose transporter type 10--lacking in arterial tortuosity syndrome--facilitates dehydroascorbic acid transport.
- Published in:
- FEBS Letters, 2016, v. 590, n. 11, p. 1630, doi. 10.1002/1873-3468.12204
- By:
- Publication type:
- Article
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1886, doi. 10.1002/humu.23834
- By:
- Publication type:
- Article
Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.
- Published in:
- Genes, 2019, v. 10, n. 11, p. 843, doi. 10.3390/genes10110843
- By:
- Publication type:
- Article
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 764, doi. 10.3390/genes10100764
- By:
- Publication type:
- Article
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 762, doi. 10.3390/genes10100762
- By:
- Publication type:
- Article
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
- Published in:
- Genes, 2019, v. 10, n. 9, p. 631, doi. 10.3390/genes10090631
- By:
- Publication type:
- Article
Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.
- Published in:
- Genes, 2019, v. 10, n. 8, p. 609, doi. 10.3390/genes10080609
- By:
- Publication type:
- Article
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.
- Published in:
- Genes, 2019, v. 10, n. 2, p. 135, doi. 10.3390/genes10020135
- By:
- Publication type:
- Article
Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center.
- Published in:
- Vascular Medicine, 2024, v. 29, n. 3, p. 265, doi. 10.1177/1358863X231215330
- By:
- 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
- By:
- Publication type:
- Article
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 150, n. 1, p. 40, doi. 10.1159/000452724
- By:
- Publication type:
- Article