Found: 22
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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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- 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
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- Publication type:
- journal article
COL6A5 variants in familial neuropathic chronic itch.
- Published in:
- 2017
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- Publication type:
- journal 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
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- 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
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- Publication type:
- Article
Italian validation of the functional difficulties questionnaire (FDQ‐9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 1, p. 25, doi. 10.1002/ajmg.b.32698
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- Publication type:
- Article
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 914, doi. 10.1002/ajmg.a.38106
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- 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
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- Publication type:
- Article
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 200, doi. 10.1002/ajmg.a.37975
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- 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
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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.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3010, doi. 10.1002/ajmg.a.36805
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- Publication type:
- 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
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2176, doi. 10.1002/ajmg.a.35506
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- Publication type:
- Article
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 2, p. 1, doi. 10.1093/ckj/sfae026
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- Publication type:
- Article
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 230, doi. 10.1111/cge.14336
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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.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161347
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- Publication type:
- Article
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
- Published in:
- 2019
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- Publication type:
- Case Study
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
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- Cytogenetic & Genome Research, 2017, v. 150, n. 1, p. 40, doi. 10.1159/000452724
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- Publication type:
- Article
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
- Published in:
- Journal of Nephrology (JNonline), 2022, v. 35, n. 2, p. 645, doi. 10.1007/s40620-021-01131-w
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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.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0122-5
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- Publication type:
- Article
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0091-8
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- Publication type:
- Article