Works matching Osteopetrosis
Results: 955
Osteopetrosis, calcificación más allá del sistema óseo. Reporte de un caso.
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- Boletín Médico del Hospital Infantil de México, 2012, v. 69, n. 2, p. 116
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- Article
Fractura subtrocantérica en osteopetrosis tipo II autosómica dominante. Reporte de un caso.
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- 2006
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- Report
Haploidentical haematopoietic stem cell transplantation for malignant infantile osteopetrosis and intermediate osteopetrosis: a retrospective analysis of a single centre.
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- 2021
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- journal article
Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.
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- Molecular Medicine Reports, 2019, v. 19, n. 6, p. 5030, doi. 10.3892/mmr.2019.10123
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Identification of novel mutation in RANKL by whole‐exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1727
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- Article
The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
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- Journal of Bone & Mineral Metabolism, 2012, v. 30, n. 3, p. 338, doi. 10.1007/s00774-011-0319-z
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- Article
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.
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- 2017
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- journal article
Neurological aspects of osteopetrosis.
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- Neuropathology & Applied Neurobiology, 2003, v. 29, n. 2, p. 87, doi. 10.1046/j.1365-2990.2003.00474.x
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Diagnosis: Infantile Malign Osteopetrosis.
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- 2014
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- Case Study
A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series.
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- 2013
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- journal article
Clinical and imaging features of malignant infantile osteopetrosis.
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- Turkish Journal of Pediatrics, 2017, v. 59, n. 4, p. 452, doi. 10.24953/turkjped.2017.04.012
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- Article
Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2024.1418932
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- Article
Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.
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- 2004
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- journal article
Osteopetrosis– a review and report of two cases.
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- Oral Diseases, 2005, v. 11, n. 1, p. 46, doi. 10.1111/j.1601-0825.2004.01046.x
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Incidental finding of osteopetrosis complicated with osteomyelitis.
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- Clinical Cases in Mineral & Bone Metabolism, 2018, v. 15, n. 3, p. 371
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- Article
Osteopetrosis with Typical Radiological Findings: A Report of a Rare Case.
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- Ethiopian Journal of Health Sciences, 2024, v. 34, n. 2, p. 163, doi. 10.4314/ejhs.v34i2.8
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- Article
Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review.
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- Journal of International Advanced Otology, 2021, v. 17, n. 6, p. 551, doi. 10.5152/iao.2021.21266
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Osteopetrosis of the Temporal Bone Treated with Cochlear Implant.
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- Journal of International Advanced Otology, 2015, v. 11, n. 2, p. 173, doi. 10.5152/iao.2015.449
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Osteopetrosis in two siblings: two case reports.
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- 2016
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- Case Study
Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis.
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- British Journal of Haematology, 2001, v. 112, n. 1, p. 64, doi. 10.1046/j.1365-2141.2001.02538.x
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Osteomyelitis in infantile osteopetrosis: A case report with review of literature.
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- 2008
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- Case Study
Dental Management in Autosomal Recessive (Intermediate) Osteopetrosis: A Case Report.
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- 2010
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- Case Study
Middle cerebral arterial occlusion in a child with osteopetrosis major.
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- 2001
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- journal article
Decompressive Cranioplasty Using Titanium Mesh in a Patient with Osteopetrosis: Case-based Reviews.
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- Iranian Journal of Neurosurgery, 2022, v. 8, p. 1, doi. 10.32598/irjns.8.23
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Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature.
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- Experimental & Therapeutic Medicine, 2020, v. 19, n. 4, p. 2702, doi. 10.3892/etm.2020.8503
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Debridement in chronic osteomyelitis with benign osteopetrosis: A case report.
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- Experimental & Therapeutic Medicine, 2016, v. 12, n. 5, p. 2811, doi. 10.3892/etm.2016.3706
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- Article
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1815
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- Article
Visual Function Improvement After Optic Nerve Sheath Fenestration in Osteopetrosis Patients with Optic Canal Stenosis: A Report of Two Cases.
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- 2018
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- Case Study
Infantile or Malignant Osteopetrosis: Case Report of Two Siblings.
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- 2013
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- Case Study
Neonatal Hipokalsemi Gözlenen Malign İnfantil Osteopetroz Olgusu.
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- 2009
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- Case Study
Osteopetrosis: Radiological and Radionuclide Imaging.
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- Indian Journal of Nuclear Medicine, 2015, v. 30, n. 1, p. 55, doi. 10.4103/0972-3919.147544
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Surgical Treatment of an Osteopetrotic Patient with Postoperative Fractures: Lessons from Siblings with Osteopetrosis.
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- Tohoku Journal of Experimental Medicine, 2013, v. 230, n. 2, p. 93, doi. 10.1620/tjem.230.93
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- Article
Acquired encephaloceles and epilepsy in osteopetrosis.
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- Acta Neurochirurgica, 2007, v. 149, n. 1, p. 79, doi. 10.1007/s00701-006-1070-4
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- Article
Infantile Malignant Osteopetrosis: Report of 2 Cases With Osteomyelitis of the Jaws.
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- Journal of Dentistry for Children, 2012, v. 79, n. 2, p. 93
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Oligodontia Associated With Osteopetrosis: A Rare Case Report.
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- 2011
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- Case Study
Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.
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- Pediatric Transplantation, 2024, v. 28, n. 3, p. 1, doi. 10.1111/petr.14689
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The Role of the Lysosomal Cl − /H + Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
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- Cells (2073-4409), 2022, v. 11, n. 3, p. 366, doi. 10.3390/cells11030366
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Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report.
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- Paediatrics & International Child Health, 2024, v. 44, n. 2, p. 52, doi. 10.1080/20469047.2024.2335423
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Autoimmune Cytopenias Post Hematopoietic Stem Cell Transplantation in Pediatric Patients With Osteopetrosis and Other Nonmalignant Diseases.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.879994
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DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.
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- Journal of Human Genetics, 2007, v. 52, n. 1, p. 98, doi. 10.1007/s10038-006-0075-4
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A Case of Osteopetrosis with Orbital Inflammation Secondary to Maxillary Osteomyelitis.
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- 2024
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- Case Study
Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations.
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- Genes, 2022, v. 13, n. 11, p. 1965, doi. 10.3390/genes13111965
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- Article
Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.
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- Genes, 2020, v. 11, n. 11, p. 1242, doi. 10.3390/genes11111242
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Neuropathogenicity of newly isolated avian leukosis viruses from chickens with osteopetrosis and mesenchymal neoplasms.
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- Avian Pathology, 2020, v. 49, n. 5, p. 440, doi. 10.1080/03079457.2020.1757621
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- Article
A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis.
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- Avicenna Journal of Medical Biotechnology, 2017, v. 9, n. 4, p. 205
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Osteopetrozis ve raşitizm birlikteliği: Bir vaka takdimi.
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- Cocuk Sagligi ve Hastaliklari Dergisi, 2009, v. 52, n. 4, p. 219
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Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01117-4
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Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 10, p. 1814, doi. 10.1002/jbmr.2517
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Osteopetrosis and Glanzmann's thrombasthenia in a child.
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- 2003
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- journal article
Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report.
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- Annals of Hematology, 2003, v. 82, n. 1, p. 64, doi. 10.1007/s00277-002-0578-9
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- Article