Found: 16
Select item for more details and to access through your institution.
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
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
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
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
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
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
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
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
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