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Recognizing and treating Ehlers-Danlos syndrome(s): the need for a multidisciplinary approach.
- Published in:
- Panamerican Journal of Neuropsychology / Cuadernos de Neuropsicología, 2016, v. 10, p. 95, doi. 10.7714/CNPS/10.4.207
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- Publication type:
- Article
Reconocimiento y tratamiento de los síndromes de Ehlers-Danlos: Necesidad de un enfoque pluridisciplinario.
- Published in:
- Panamerican Journal of Neuropsychology / Cuadernos de Neuropsicología, 2016, v. 10, p. 45, doi. 10.7714/CNPS/10.4.203
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- Publication type:
- Article
Severity classes in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.
- Published in:
- Rheumatology, 2019, v. 58, n. 10, p. 1722, doi. 10.1093/rheumatology/kez029
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- Publication type:
- Article
A unified compendium of prokaryotic and viral genomes from over 300 anaerobic digestion microbiomes.
- Published in:
- Environmental Microbiome, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s40793-023-00545-2
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- Publication type:
- Article
Transcriptomic and photosynthetic analyses of Synechocystis sp. PCC6803 and Chlorogloeopsis fritschii sp. PCC6912 exposed to an M-dwarf spectrum under an anoxic atmosphere.
- Published in:
- Frontiers in Plant Science, 2024, p. 1, doi. 10.3389/fpls.2023.1322052
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- Publication type:
- Article
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 241, doi. 10.1159/000365769
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- Publication type:
- Article
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1513, doi. 10.3390/genes11121513
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- Publication type:
- Article
Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders.
- Published in:
- Genes, 2019, v. 10, n. 6, p. 442, doi. 10.3390/genes10060442
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- 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
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- Publication type:
- Article
Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 84, doi. 10.1002/ajmg.c.31426
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- Publication type:
- Article
Gastrointestinal and nutritional issues in 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. 54, doi. 10.1002/ajmg.c.31431
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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
Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 6, p. 546, doi. 10.1002/ajmg.b.32646
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- Publication type:
- Article
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 7, p. 732, doi. 10.1002/ajmg.b.32570
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- Publication type:
- Article
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 56, doi. 10.1111/cge.14127
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- Publication type:
- Article
Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 4, p. 540, doi. 10.1111/cge.13911
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- 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
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- Publication type:
- Article
Placing joint hypermobility in context: traits, disorders and syndromes.
- Published in:
- British Medical Bulletin, 2023, v. 147, n. 1, p. 90, doi. 10.1093/bmb/ldad013
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- Publication type:
- Article
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
- Published in:
- Human Genetics, 2023, v. 142, n. 6, p. 785, doi. 10.1007/s00439-023-02547-z
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- Publication type:
- Article
Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the 'phacomatosis complex'.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 445, doi. 10.1002/ajmg.a.34403
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- Publication type:
- Article
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2017, v. 44, n. 4, p. 1559, doi. 10.1159/000485651
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- 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
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- Publication type:
- Article
Craniosynostosis is a feature of CHD7‐related CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2160, doi. 10.1002/ajmg.a.62208
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- Publication type:
- Article
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 955, doi. 10.1002/ajmg.a.62047
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- Publication type:
- Article
Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 846, doi. 10.1002/ajmg.a.61100
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- Publication type:
- Article
LTBP2‐related "Marfan‐like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 104, doi. 10.1002/ajmg.a.10
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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.
- Published in:
- 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
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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- Publication type:
- Article
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 588, doi. 10.1002/ajmg.a.36437
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- Publication type:
- Article
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 1, doi. 10.1002/ajmg.a.36437
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- 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
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- Publication type:
- Article
Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2989, doi. 10.1002/ajmg.a.36315
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- Publication type:
- Article
The 'old theme' of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with ('San Diego' variant) and without ragged metaphyses due to the same FGFR3 mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2675, doi. 10.1002/ajmg.a.36131
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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.
- Published in:
- 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
Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2055, doi. 10.1002/ajmg.a.35483
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- Publication type:
- Article
Analysis of the anaerobic digestion metagenome under environmental stresses stimulating prophage induction.
- Published in:
- Microbiome, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40168-022-01316-w
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- Publication type:
- Article
An Additional Patient With 3q27.3 Microdeletion Syndrome.
- Published in:
- 2015
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- Publication type:
- Case Study