Works matching DE "SKELETAL dysplasia"
Results: 526
Osteogenesis Imperfecta from Bench to Bedside and from Cradle to Grave.
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- Calcified Tissue International, 2024, v. 115, n. 6, p. 775, doi. 10.1007/s00223-024-01304-2
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- Publication type:
- Article
Update on the Genetics of Osteogenesis Imperfecta.
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- Calcified Tissue International, 2024, v. 115, n. 6, p. 891, doi. 10.1007/s00223-024-01266-5
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- Publication type:
- Article
A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.
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- Calcified Tissue International, 2024, v. 115, n. 6, p. 873, doi. 10.1007/s00223-024-01248-7
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- Publication type:
- Article
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.
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- Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0
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- Publication type:
- Article
A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.
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- Calcified Tissue International, 2015, v. 96, n. 5, p. 373, doi. 10.1007/s00223-015-9963-y
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- Publication type:
- Article
Fatty filum terminale and low-lying conus medullaris in Gollop-Wolfgang complex: a case report and review of literature.
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- Child's Nervous System, 2023, v. 39, n. 2, p. 517, doi. 10.1007/s00381-022-05679-1
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- Publication type:
- Article
Occipitocervical instrumented fixation utilising patient-specific C2 3D-printed spinal screw trajectory guides in complex paediatric skeletal dysplasia.
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- Child's Nervous System, 2021, v. 37, n. 8, p. 2643, doi. 10.1007/s00381-021-05260-2
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- Article
Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
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- Nature, 2014, v. 513, n. 7519, p. 507, doi. 10.1038/nature13775
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- Article
SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia.
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- JCEM Case Reports, 2024, v. 2, n. 8, p. 1, doi. 10.1210/jcemcr/luae144
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- Publication type:
- Article
A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age.
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- JCEM Case Reports, 2023, v. 1, n. 4, p. 1, doi. 10.1210/jcemcr/luad096
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- Publication type:
- Article
Anesthesia Management in an Acondroplasic Patient Developing Cardiac Tamponade Due to Myxedema.
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- 2020
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- Publication type:
- Case Study
Síndrome de Jeune tipo II clínico y enfermedad renal crónica terminal. Reporte de caso.
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- Revista de Nefrología Diálisis y Trasplante, 2024, v. 44, n. 3, p. 151
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- Publication type:
- Article
Lamin B Receptor: Interplay between Structure, Function and Localization.
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- Cells (2073-4409), 2017, v. 6, n. 3, p. 28, doi. 10.3390/cells6030028
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- Publication type:
- Article
MiR-29a Family as a Key Regulator of Skeletal Muscle Dysplasia in a Porcine Model of Intrauterine Growth Retardation.
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- Biomolecules (2218-273X), 2022, v. 12, n. 9, p. 1193, doi. 10.3390/biom12091193
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- Publication type:
- Article
T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent.
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- Frontiers in Immunology, 2022, v. 13, p. 01, doi. 10.3389/fimmu.2022.979722
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- Article
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
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- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2019.01383
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- Publication type:
- Article
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00504
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- Publication type:
- Article
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia.
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- 2018
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- Publication type:
- Case Study
A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.
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- Lupus, 2025, v. 34, n. 1, p. 108, doi. 10.1177/09612033241301506
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- Publication type:
- Article
Detection of genetic mutations underlying early-onset systemic lupus erythematosus.
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- 2024
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- Publication type:
- Case Study
Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.
- Published in:
- 2016
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- Publication type:
- Case Study
Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
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- Thyroid, 2021, v. 31, n. 7, p. 1114, doi. 10.1089/thy.2020.0391
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- Publication type:
- Article
Genetic and Pharmacological Targeting of Transcriptional Repression in Resistance to Thyroid Hormone Alpha.
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- Thyroid, 2019, v. 29, n. 5, p. 726, doi. 10.1089/thy.2018.0399
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- Publication type:
- Article
GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33025-1
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- Publication type:
- Article
A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.
- Published in:
- 2017
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- Publication type:
- Case Study
Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 3, p. 164, doi. 10.1159/000508500
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- Publication type:
- Article
Plasma C-Type Natriuretic Peptide: Emerging Applications in Disorders of Skeletal Growth.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 6, p. 345, doi. 10.1159/000496544
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- Publication type:
- Article
Growth Hormone Treatment in Patients with Hypochondroplasia.
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- Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 353, doi. 10.1159/000369169
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- Publication type:
- Article
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort.
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- Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 355, doi. 10.1159/000364807
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- Publication type:
- Article
Whole Exome Sequencing to Identify Genetic Causes of Short Stature.
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- Hormone Research in Paediatrics, 2014, v. 82, n. 1, p. 44, doi. 10.1159/000360857
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- Publication type:
- Article
A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.
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- Genes, 2024, v. 15, n. 9, p. 1169, doi. 10.3390/genes15091169
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- Publication type:
- Article
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
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- Genes, 2024, v. 15, n. 2, p. 225, doi. 10.3390/genes15020225
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- Publication type:
- Article
A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy—Case Report and Literature Review.
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- 2023
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- Publication type:
- Case Study
Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.
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- Genes, 2023, v. 14, n. 4, p. 877, doi. 10.3390/genes14040877
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- Publication type:
- Article
A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.
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- Genes, 2023, v. 14, n. 2, p. 510, doi. 10.3390/genes14020510
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- Publication type:
- Article
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.
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- Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
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- Publication type:
- Article
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
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- 2022
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- Publication type:
- Case Study
Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.
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- Genes, 2022, v. 13, n. 9, p. 1578, doi. 10.3390/genes13091578
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- Article
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
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- Genes, 2022, v. 13, n. 8, p. 1314, doi. 10.3390/genes13081314
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- Article
A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia.
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- Genes, 2022, v. 13, n. 7, p. 1128, doi. 10.3390/genes13071128
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- Article
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
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- Genes, 2022, v. 13, n. 1, p. 137, doi. 10.3390/genes13010137
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- Article
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
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- 2021
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- Publication type:
- Case Study
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.
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- Genes, 2021, v. 12, n. 9, p. 1395, doi. 10.3390/genes12091395
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- Publication type:
- Article
SLC26A2 -Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature.
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- Genes, 2021, v. 12, n. 5, p. 714, doi. 10.3390/genes12050714
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- Publication type:
- Article
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
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- Genes, 2019, v. 10, n. 10, p. 799, doi. 10.3390/genes10100799
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- Publication type:
- Article
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
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- Genes, 2019, v. 10, n. 9, p. 631, doi. 10.3390/genes10090631
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- Publication type:
- Article
Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.
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- Acta Dermato-Venereologica, 2019, v. 99, n. 12, p. 1110, doi. 10.2340/00015555-3318
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- Article
Advances in evaluating the fetal skeleton.
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- International Journal of Women's Health, 2014, v. 6, p. 489, doi. 10.2147/IJWH.S47073
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- Article
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
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- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00865-x
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- Article
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.
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- 2017
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- Publication type:
- journal article