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The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.
- Published in:
- Biomedicines, 2024, v. 12, n. 8, p. 1698, doi. 10.3390/biomedicines12081698
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- Publication type:
- Article
AXIN2 germline mutations are rare in familial melanoma.
- Published in:
- Genes, Chromosomes & Cancer, 2011, v. 50, n. 5, p. 370, doi. 10.1002/gcc.20855
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- Publication type:
- Article
Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type.
- Published in:
- 2013
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- Publication type:
- Journal Article
Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/580460
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- Publication type:
- Article
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
Foot Type Analysis Based on Electronic Pedobarography Data in Individuals with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type During Upright Standing.
- Published in:
- Journal of the American Podiatric Medical Association, 2014, v. 104, n. 6, p. 588, doi. 10.7547/8750-7315-104.6.588
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- Publication type:
- Article
Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder.
- Published in:
- Rheumatology International, 2014, v. 34, n. 5, p. 631, doi. 10.1007/s00296-013-2901-2
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- Publication type:
- Article
Ehlers-Danlos syndrome hypermobility type: a possible unifying concept for various functional somatic syndromes.
- Published in:
- 2013
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- Publication type:
- Letter
Evaluation of lower limb disability in joint hypermobility syndrome.
- Published in:
- Rheumatology International, 2012, v. 32, n. 8, p. 2577, doi. 10.1007/s00296-011-2044-2
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- Publication type:
- Article
Surgical Recommendations in Ehlers-Danlos Syndrome(s) Need Patient Classification: The Example of Ehlers-Danlos Syndrome Hypermobility Type (a.k.a. Joint Hypermobility Syndrome).
- Published in:
- Digestive Surgery, 2013, v. 29, n. 6, p. 453, doi. 10.1159/000346068
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- Publication type:
- Article
Deconstructing and reconstructing joint hypermobility on an evo-devo perspective.
- Published in:
- Rheumatology, 2021, v. 60, n. 6, p. 2537, doi. 10.1093/rheumatology/keab196
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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
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.
- Published in:
- 2015
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- Publication type:
- Report
COL6A5 variants in familial neuropathic chronic itch.
- Published in:
- 2017
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- 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
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- 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
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- Publication type:
- Article
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
- Published in:
- Ophthalmic Research, 2022, v. 65, n. 2, p. 180, doi. 10.1159/000520329
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- 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
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- 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
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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
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.
- Published in:
- 2024
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- Publication type:
- Case Study
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 430, doi. 10.3390/genes15040430
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- Publication type:
- Article
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10 -Depleted Mouse Endothelial Cells.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 961, doi. 10.3390/genes13060961
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- Publication type:
- Article
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 261, doi. 10.3390/genes13020261
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- Publication type:
- Article
Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1885, doi. 10.3390/genes12121885
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- Publication type:
- Article
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 229, doi. 10.3390/genes12020229
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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
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.
- Published in:
- Genes, 2020, v. 11, n. 6, p. 707, doi. 10.3390/genes11060707
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- Publication type:
- Article
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040379
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- Publication type:
- Article
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 967, doi. 10.3390/genes10120967
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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
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105
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- Publication type:
- Article
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 623, doi. 10.1038/ng1805
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- Publication type:
- Article
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.
- Published in:
- Minerva Endocrinology, 2022, v. 47, n. 1, p. 4, doi. 10.23736/S2724-6507.21.03477-1
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- 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
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- Publication type:
- Article
Reticulate Vascular Lesions and a Large Head.
- Published in:
- Pediatric Dermatology, 2007, v. 24, n. 5, p. 555, doi. 10.1111/j.1525-1470.2007.00519.x
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- Publication type:
- Article
Dermatology Eponyms -- sign -- Lexicon (P). Part 2.
- Published in:
- Our Dermatology Online / Nasza Dermatologia Online, 2016, v. 7, n. 3, p. 359, doi. 10.7241/ourd.20163.99
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- Publication type:
- Article
Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations.
- Published in:
- ISRN Dermatology, 2012, p. 1, doi. 10.5402/2012/751768
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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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
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
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- Publication type:
- Article