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Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2.
- Published in:
- 2020
- By:
- Publication type:
- Letter
A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 8, p. 1417, doi. 10.1007/s10072-015-2173-6
- By:
- Publication type:
- Article
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?
- Published in:
- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/9161865
- By:
- Publication type:
- Article
Editorial: Neurodevelopmental, neuropsychiatric and psychosocial correlates of joint hypermobility and related disorders.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.1109515
- By:
- Publication type:
- Article
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma.
- Published in:
- International Journal of Endocrinology, 2020, p. 1, doi. 10.1155/2020/2080797
- By:
- Publication type:
- Article
An Additional Patient With 3q27.3 Microdeletion Syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.
- Published in:
- Current Osteoporosis Reports, 2018, v. 16, n. 4, p. 333, doi. 10.1007/s11914-018-0460-x
- By:
- Publication type:
- Article
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s).
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0109-5
- By:
- Publication type:
- Article
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s).
- Published in:
- 2014
- By:
- Publication type:
- journal article
COL6A5 variants in familial neuropathic chronic itch.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 668, doi. 10.3390/ijms24010668
- By:
- Publication type:
- Article
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 5141, doi. 10.3390/ijms21145141
- By:
- Publication type:
- Article
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 217, doi. 10.1007/s00439-021-02403-y
- By:
- Publication type:
- Article
Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation.
- Published in:
- Cardiogenetics, 2022, v. 12, n. 1, p. 80, doi. 10.3390/cardiogenetics12010007
- By:
- Publication type:
- Article
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.
- Published in:
- Audiology Research, 2021, v. 11, n. 3, p. 443, doi. 10.3390/audiolres11030041
- By:
- Publication type:
- Article
Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1338941
- By:
- Publication type:
- Article
High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 4, p. 599, doi. 10.1002/ajmg.c.31939
- By:
- Publication type:
- Article
A framework for the classification of joint hypermobility and related conditions.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 1, p. 148, doi. 10.1002/ajmg.c.31539
- By:
- Publication type:
- Article
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 1, p. 48, doi. 10.1002/ajmg.c.31538
- By:
- Publication type:
- Article
The 2017 international classification of the Ehlers-Danlos syndromes.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 1, p. 8, doi. 10.1002/ajmg.c.31552
- By:
- Publication type:
- Article
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 107, doi. 10.1002/ajmg.c.31424
- 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
Ehlers–Danlos Syndrome(s) Mimicking Child Abuse: Is There an Impact on Clinical Practice?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 4, p. 289, doi. 10.1002/ajmg.c.31460
- By:
- 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
- By:
- Publication type:
- Article
Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 117, doi. 10.1002/ajmg.c.31427
- By:
- Publication type:
- Article
Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 97, doi. 10.1002/ajmg.c.31430
- By:
- 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
- By:
- Publication type:
- Article
Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 1, doi. 10.1002/ajmg.c.31432
- By:
- 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.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 1, p. 25, doi. 10.1002/ajmg.b.32698
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Biallelic LZTR1 variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63518
- By:
- 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
- By:
- Publication type:
- Article
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 955, doi. 10.1002/ajmg.a.62047
- By:
- 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
- By:
- Publication type:
- Article
Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in FKBP14.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 317, doi. 10.1002/ajmg.a.61006
- By:
- Publication type:
- Article
LTBP2‐related "Marfan‐like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 104, doi. 10.1002/ajmg.a.10
- By:
- Publication type:
- Article
A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2028, doi. 10.1002/ajmg.a.40379
- By:
- 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
- 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
Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1947, doi. 10.1002/ajmg.a.37733
- By:
- Publication type:
- Article
Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 676, doi. 10.1002/ajmg.a.37510
- By:
- Publication type:
- Article
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 842, doi. 10.1002/ajmg.a.36983
- 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
Novel SMAD4 mutation causing Myhre syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1835, doi. 10.1002/ajmg.a.36544
- By:
- 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. 3, p. 588, doi. 10.1002/ajmg.a.36437
- 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
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
- By:
- 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
- By:
- 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.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2675, doi. 10.1002/ajmg.a.36131
- By:
- Publication type:
- Article