Works by Kitoh, Hiroshi
Results: 67
Long-term oral meclozine administration improves survival rate and spinal canal stenosis during postnatal growth in a mouse model of achondroplasia in both sexes.
- Published in:
- JBMR Plus, 2024, v. 8, n. 4, p. 1, doi. 10.1093/jbmrpl/ziae018
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- Publication type:
- Article
Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H).
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- 2024
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- Publication type:
- Case Study
Pharmacokinetics and safety after once and twice a day doses of meclizine hydrochloride administered to children with achondroplasia.
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- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0229639
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- Article
The effect of recombinant human bone morphogenetic protein-2 on the osteogenic potential of rat mesenchymal stem cells after several passages.
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- Acta Orthopaedica, 2007, v. 78, n. 2, p. 285, doi. 10.1080/17453670710013816
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- Article
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
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- Human Genetics, 2011, v. 130, n. 5, p. 671, doi. 10.1007/s00439-011-1006-9
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- Article
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.
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- Human Genetics, 2007, v. 121, n. 5, p. 625, doi. 10.1007/s00439-007-0354-y
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- Article
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
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- Human Genetics, 2003, v. 112, n. 1, p. 84, doi. 10.1007/s00439-002-0845-9
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- Article
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
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- Human Genetics, 2003, v. 112, n. 1, p. 78, doi. 10.1007/s00439-002-0844-x
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- Article
Clinical Aspects and Current Therapeutic Approaches for FOP.
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- Biomedicines, 2020, v. 8, n. 9, p. 325, doi. 10.3390/biomedicines8090325
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- Article
Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1148
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- Article
The Biomechanical Effect of the Sensomotor Insole on a Pediatric Intoeing Gait.
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- 2012
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- Publication type:
- Journal Article
The Biomechanical Effect of the Sensomotor Insole on a Pediatric Intoeing Gait.
- Published in:
- ISRN Orthopedics, 2012, p. 1, doi. 10.5402/2012/396718
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- Publication type:
- Article
Longitudinal study of the activities of daily living and quality of life in Japanese patients with fibrodysplasia ossificans progressiva.
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- Disability & Rehabilitation, 2019, v. 41, n. 6, p. 699, doi. 10.1080/09638288.2017.1405083
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- Article
International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03236-4
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- Publication type:
- Article
C-type natriuretic Peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
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- 2015
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- Publication type:
- Journal Article
The phenotypic spectrum of COL2A1 mutations.
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- Human Mutation, 2005, v. 26, n. 1, p. 36, doi. 10.1002/humu.20179
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- Article
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
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- Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9286
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- Article
Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology.
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- 2018
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- Publication type:
- journal article
A Common Mutation in the Tyrosine Kinase Domain of the Fibroblast Growth Factor Receptor 3 Gene in Two Japanese Patients with Hypochondroplasia.
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- Congenital Anomalies, 1996, v. 36, n. 4, p. 257, doi. 10.1111/j.1741-4520.1996.tb00323.x
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- Publication type:
- Article
Identification of Mutations in the Gene Encoding the Fibroblast Growth Factor Receptor 3 in Japanese Patients with Achondroplasia.
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- Congenital Anomalies, 1995, v. 35, n. 2, p. 231, doi. 10.1111/j.1741-4520.1995.tb00615.x
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- Publication type:
- Article
Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva.
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- 2016
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- Publication type:
- journal article
A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome.
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- Pediatric Radiology, 2014, v. 44, n. 12, p. 1617, doi. 10.1007/s00247-014-3013-1
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- Article
Benign prenatal hypophosphatasia: a treatable disease not to be missed.
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- Pediatric Radiology, 2014, v. 44, n. 3, p. 340, doi. 10.1007/s00247-013-2805-z
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- Publication type:
- Article
Induction of systemic bone changes by preconditioning total body irradiation for bone marrow transplantation.
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- Pediatric Radiology, 2009, v. 39, n. 1, p. 23, doi. 10.1007/s00247-008-1033-4
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- Publication type:
- Article
A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly.
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- Pediatric Radiology, 2001, v. 31, n. 1, p. 23, doi. 10.1007/s002470000356
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- Publication type:
- Article
Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation.
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- Clinical Case Reports, 2020, v. 8, n. 12, p. 3110, doi. 10.1002/ccr3.3357
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- Article
Fibrodysplasia ossificans progressiva: Review and research activities in Japan.
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- Pediatrics International, 2020, v. 62, n. 1, p. 3, doi. 10.1111/ped.14065
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- Publication type:
- Article
Low bone mineral density in achondroplasia and hypochondroplasia.
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- Pediatrics International, 2016, v. 58, n. 8, p. 705, doi. 10.1111/ped.12890
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- Publication type:
- Article
Isolated bifid rib: Clinical and radiological findings in children.
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- Pediatrics International, 2012, v. 54, n. 6, p. 820, doi. 10.1111/j.1442-200X.2012.03672.x
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- Publication type:
- Article
Sagittal spinal alignment in patients with Legg-Calve-Perthes disease.
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- Pediatrics International, 2007, v. 49, n. 5, p. 612, doi. 10.1111/j.1442-200X.2007.02428.x
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- Publication type:
- Article
Scheie syndrome (MPS-IS) presented as bilateral trigger thumb.
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- Pediatrics International, 2003, v. 45, n. 1, p. 91, doi. 10.1046/j.1442-200X.2003.01654.x
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- Publication type:
- Article
Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.
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- Pediatrics International, 1998, v. 40, n. 4, p. 324, doi. 10.1111/j.1442-200X.1998.tb01940.x
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- Publication type:
- Article
Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study.
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- Clinical Pediatric Endocrinology, 2022, v. 31, n. 1, p. 18, doi. 10.1297/cpe.2021-0043
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- Article
Asfotase alfa has a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia: A case report.
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- Clinical Pediatric Endocrinology, 2021, v. 30, n. 1, p. 53, doi. 10.1297/cpe.30.53
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- Article
A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.
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- Clinical Pediatric Endocrinology, 2020, v. 29, n. 3, p. 99, doi. 10.1297/cpe.29.99
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- Article
Disease-specific complications and multidisciplinary interventions in achondroplasia.
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- Journal of Bone & Mineral Metabolism, 2022, v. 40, n. 2, p. 189, doi. 10.1007/s00774-021-01298-z
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- Publication type:
- Article
Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta.
- Published in:
- 2020
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- Publication type:
- journal article
A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia.
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- Journal of Bone & Mineral Metabolism, 2014, v. 32, n. 1, p. 96, doi. 10.1007/s00774-013-0456-7
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- Publication type:
- Article
Clinically applicable antianginal agents suppress osteoblastic transformation of myogenic cells and heterotopic ossifications in mice.
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- Journal of Bone & Mineral Metabolism, 2013, v. 31, n. 1, p. 26, doi. 10.1007/s00774-012-0380-2
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- Publication type:
- Article
Health-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia.
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- Progress in Rehabilitation Medicine, 2021, v. 6, p. 1, doi. 10.2490/prm.20210048
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- Publication type:
- Article
Meclozine ameliorates bone mineralization and growth plate structure in a mouse model of X‑linked hypophosphatemia.
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- Experimental & Therapeutic Medicine, 2023, v. 25, n. 1, p. N.PAG
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- Publication type:
- Article
Extensive Bone Lengthening for a Patient with Linear Morphea.
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- Case Reports in Orthopedics, 2018, p. 1, doi. 10.1155/2018/4535804
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- Publication type:
- Article
Factors related to surgical outcome after posterior decompression and fusion for craniocervical junction lesions associated with osteogenesis imperfecta.
- Published in:
- 2011
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- Publication type:
- Report
Prediction of Clinically Significant Leg-Length Discrepancy in Congenital Disorders.
- Published in:
- 2015
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- Publication type:
- journal article
Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia.
- Published in:
- Journal of Orthopaedic Research, 2018, v. 36, n. 1, p. 300, doi. 10.1002/jor.23608
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- Publication type:
- Article
Activated FGFR3 suppresses bone regeneration and bone mineralization in an ovariectomized mouse model.
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- BMC Musculoskeletal Disorders, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12891-023-06318-9
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- Publication type:
- Article
Phase 1b study on the repurposing of meclizine hydrochloride for children with achondroplasia.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0283425
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- Publication type:
- Article
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an openlabeled clinical trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-163
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- Publication type:
- Article
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial.
- Published in:
- 2013
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- Publication type:
- journal article
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
- Published in:
- Nature Genetics, 2001, v. 27, n. 4, p. 369, doi. 10.1038/86860
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- Publication type:
- Article