Gen Nishimura

Articles in Scholarly Journals [Incomplete List]

  1. Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanningRUNX2 andVEGF
    American Journal of Medical Genetics Part A, vol. 140A, no. 4, pp. 398–401, 2006
  2. Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation
    American Journal of Medical Genetics Part A, vol. 140A, no. 9, pp. 1013–1015, 2006
  3. A compound heterozygote harboring novel and recurrentDTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia
    American Journal of Medical Genetics Part A, vol. 140A, no. 11, pp. 1143–1147, 2006
  4. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population
    American Journal of Medical Genetics Part A, vol. 140A, no. 12, pp. 1280–1284, 2006
  5. Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)
    Clinical Rheumatology, vol. 25, no. 4, pp. 591–595, 2006
  6. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
    Journal of Human Genetics, vol. 51, no. 8, pp. 706–710, 2006
  7. Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone Analysis
    Pediatric Research, vol. 59, no. 2, pp. 276–280, 2006
  8. Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification
    Journal of Bone and Mineral Metabolism, vol. 24, no. 1, pp. 48–52, 2005
  9. The phenotypic spectrum ofCOL2A1 mutations
    Human Mutation, vol. 26, no. 1, pp. 36–43, 2005
  10. NovelCOL9A3 mutation in a family with multiple epiphyseal dysplasia
    American Journal of Medical Genetics Part A, vol. 132A, no. 2, pp. 181–184, 2005
  11. Double-layered patella in multiple epiphyseal dysplasia is not exclusive toDTDST mutation
    American Journal of Medical Genetics Part A, vol. 133A, no. 1, pp. 106–107, 2005
  12. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome
    American Journal of Medical Genetics Part A, vol. 135A, no. 2, pp. 130–133, 2005
  13. Microdeletion in theSHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: Implication for theSHOX enhancer
    American Journal of Medical Genetics Part A, vol. 137A, no. 1, pp. 72–76, 2005
  14. Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features
    American Journal of Medical Genetics Part A, vol. 138A, no. 2, pp. 127–132, 2005
  15. Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
    American Journal of Medical Genetics Part A, vol. 138A, no. 3, pp. 282–287, 2005
  16. TGFB1 mutations in four new families with Camurati-Engelmann disease: Confirmation of independently arising LAP-domain-specific mutations
    American Journal of Medical Genetics, vol. 127A, no. 1, pp. 104–107, 2004
  17. Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: A new clinical entity?
    American Journal of Medical Genetics, vol. 127A, no. 3, pp. 307–309, 2004
  18. Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child
    American Journal of Medical Genetics, vol. 128A, no. 2, pp. 204–208, 2004
  19. Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations
    American Journal of Medical Genetics, vol. 129A, no. 1, pp. 35–38, 2004
  20. Novel and recurrent exon 13 mutations ofCOMP in pseudoachondroplasia
    American Journal of Medical Genetics Part A, vol. 132A, no. 1, pp. 108–109, 2004
  21. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia
    Human Mutation, vol. 24, no. 5, pp. 439–440, 2004
  22. Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period
    Prenatal Diagnosis, vol. 24, no. 1, pp. 45–49, 2004
  23. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
    Human Genetics, vol. 114, no. 4, pp. 345–348, 2004
  24. Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients
    Journal of Clinical Endocrinology & Metabolism, vol. 90, no. 1, pp. 414–426, 2004
  25. Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome
    Pediatrics International, vol. 46, no. 5, pp. 605–608, 2004
  26. Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB
    Congenital Anomalies, vol. 44, no. 4, pp. 225–229, 2004
  27. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type
    Journal of Medical Genetics, vol. 41, no. 1, pp. 75–79, 2004
  28. Isolated congenital anosmia locus maps to 18p11.23-q12.2
    Journal of Medical Genetics, vol. 41, no. 4, pp. 299–303, 2004
  29. Ischiospinal dysostosis with cystic kidney disease: report of two cases
    Clinical Dysmorphology, vol. 12, no. 2, pp. 101–104, 2003
  30. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata
    Human Genetics, vol. 112, no. 1, pp. 78–83, 2003
  31. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia
    Human Genetics, vol. 112, no. 1, pp. 84–90, 2003
  32. Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease
    American Journal of Medical Genetics, vol. 117A, no. 3, pp. 299–301, 2003
  33. Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome
    American Journal of Medical Genetics, vol. 117A, no. 3, pp. 295–298, 2003
  34. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients
    American Journal of Medical Genetics, vol. 117A, no. 2, pp. 147–153, 2003
  35. Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects
    American Journal of Medical Genetics, vol. 120A, no. 4, pp. 498–502, 2003
  36. RMRP mutations in Japanese patients with cartilage-hair hypoplasia
    American Journal of Medical Genetics, vol. 123A, no. 3, pp. 253–256, 2003
  37. Diaphyseal medullary stenosis with malignant fibrous histiocytoma: Further evidence for loss of heterozygosity involving 9p21-22 in tumor tissue
    Genes, Chromosomes and Cancer, vol. 33, no. 3, pp. 326–328, 2002
  38. Camurati-Engelmann disease type II: Progressive diaphyseal dysplasia with striations of the bones
    American Journal of Medical Genetics, vol. 107, no. 1, pp. 5–11, 2002
  39. Intrafamilial phenotypic variations in cranioectodermal dysplasia: Propositus with typical manifestations and her brother with perinatal death
    American Journal of Medical Genetics, vol. 107, no. 1, pp. 78–80, 2002
  40. Paternal UPD14 is responsible for a distinctive malformation complex
    American Journal of Medical Genetics, vol. 110, no. 3, pp. 268–272, 2002
  41. Autopsy case of microcephalic osteodysplastic primordial ?dwarfism? type II
    American Journal of Medical Genetics, vol. 113, no. 1, pp. 93–96, 2002
  42. Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein ( COMP ) gene: further expansion of the phenotypic variations of COMP defects
    Skeletal Radiology, vol. 31, no. 12, pp. 730–737, 2002
  43. Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation
    Prenatal Diagnosis, vol. 22, no. 12, pp. 1071–1075, 2002
  44. Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report
    Pediatric Radiology, vol. 32, no. 5, pp. 373–375, 2002
  45. SHOX Nullizygosity and Haploinsufficiency in a Japanese Family: Implication for the Development of Turner Skeletal Features
    Journal of Clinical Endocrinology & Metabolism, vol. 87, no. 3, pp. 1390–1394, 2002
  46. SHOX haploinsufficiency and overdosage: impact of gonadal function status
    Journal of Medical Genetics, vol. 38, no. 1, pp. 1–6, 2001
  47. Spondylar dysplasia in type X collagenopathy
    Pediatric Radiology, vol. 31, no. 2, pp. 76–80, 2001
  48. Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report
    Pediatric Radiology, vol. 31, no. 9, pp. 659–662, 2001
  49. Low-intensity fetal lungs on MRI may suggest the diagnosis of pulmonary hypoplasia
    Pediatric Radiology, vol. 31, no. 9, pp. 669–672, 2001
  50. Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family
    American Journal of Medical Genetics, vol. 104, no. 2, pp. 147–151, 2001
  51. Intrafamilial phenotypic variability in Engelmann disease (ED): Are ED and Ribbing disease the same entity?
    American Journal of Medical Genetics, vol. 91, no. 2, pp. 153–156, 2000
  52. Novel and recurrentEBP mutations in X-linked dominant chondrodysplasia punctata
    American Journal of Medical Genetics, vol. 94, no. 4, pp. 300–305, 2000
  53. Metastatic bone tumor mimicking spontaneous osteonecrosis of the medial condyle of the femur: misleading appearance on MR imaging
    Skeletal Radiology, vol. 29, no. 5, pp. 286–288, 2000
  54. Nature Genetics, vol. 26, no. 1, pp. 19–20, 2000
  55. Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3
    The American Journal of Human Genetics, vol. 66, no. 1, pp. 143–147, 2000
  56. A young infant with Goldbloom syndrome
    Pediatrics International, vol. 41, no. 1, pp. 110–112, 1999
  57. Hyperostosis generalisata with striations of the bones: report of a female case and a review of the literature
    Skeletal Radiology, vol. 28, no. 8, pp. 460–464, 1999
  58. Calcified leiomyoma of deep soft tissue in a child
    Pediatric Radiology, vol. 29, no. 2, pp. 135–137, 1999
  59. Ischio-spinal dysostosis: a previously unrecognised combination of malformations
    Pediatric Radiology, vol. 29, no. 3, pp. 212–217, 1999
  60. Fetal polycystic kidney disease in oro-facio-digital syndrome type I
    Pediatric Radiology, vol. 29, no. 7, pp. 506–508, 1999
  61. Progressive bone resorption after pathological fracture of the femoral neck in Hunter's syndrome
    Pediatric Radiology, vol. 29, no. 12, pp. 914–916, 1999
  62. Metaphyseal anadysplasia: Evidence of genetic heterogeneity
    American Journal of Medical Genetics, vol. 82, no. 1, pp. 43–48, 1999
  63. Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation
    American Journal of Medical Genetics, vol. 84, no. 1, pp. 8–11, 1999
  64. New brittle bone disorder: Report of a family with six affected individuals
    American Journal of Medical Genetics, vol. 84, no. 4, pp. 320–329, 1999
  65. Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: Report of four sibs
    American Journal of Medical Genetics, vol. 77, no. 1, pp. 1–7, 1998
  66. A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents
    Pediatric Radiology, vol. 28, no. 1, pp. 43–47, 1998
  67. A distinct subtype of "metatropic dysplasia variant" characterised by advanced carpal skeletal age and subluxation of the radial heads
    Pediatric Radiology, vol. 28, no. 2, pp. 120–125, 1998
  68. Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs
    Pediatric Radiology, vol. 28, no. 11, pp. 856–858, 1998
  69. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?
    Pediatric Radiology, vol. 28, no. 12, pp. 975–977, 1998
  70. Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type
    Skeletal Radiology, vol. 27, no. 4, pp. 188–194, 1998
  71. Mutation of the Type X Collagen Gene ([ITAL]COL10A1[/ITAL]) Causes Spondylometaphyseal Dysplasia
    The American Journal of Human Genetics, vol. 63, no. 6, pp. 1659–1662, 1998
  72. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
    Human Genetics, vol. 103, no. 6, pp. 633–638, 1998
  73. Variability of platyspondylic lethal chondrodysplasia: another case report
    Clinical Dysmorphology, vol. 7, no. 3, pp. 195–200, 1998
  74. A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: A new syndrome?
    Journal of Human Genetics, vol. 43, no. 1, pp. 65–68, 1998
  75. Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: A new syndrome?
    Journal of Human Genetics, vol. 43, no. 3, pp. 191–194, 1998
  76. Microscopic intraosseous extension of osteosarcoma: assessment on dynamic contrast-enhanced MRI
    Skeletal Radiology, vol. 26, no. 4, pp. 214–221, 1997
  77. Epithelioid sarcoma with unusual radiological findings
    Skeletal Radiology, vol. 26, no. 10, pp. 606–610, 1997
  78. Acute gastric outlet obstruction following the administration of prostaglandin: an additional case
    Pediatric Radiology, vol. 27, no. 1, pp. 57–59, 1997
  79. Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-Like syndrome
    American Journal of Medical Genetics, vol. 71, no. 1, pp. 87–92, 1997
  80. Multiple, juxtasutural, cranial hyperostoses and cardiac tumor: A new hamartomatous syndrome?
    American Journal of Medical Genetics, vol. 71, no. 2, pp. 167–171, 1997
  81. SPONASTRIME dysplasia: Report on a female patient with severe skeletal changes
    American Journal of Medical Genetics, vol. 66, no. 4, pp. 429–432, 1996
  82. New form of platyspondylic lethal chondrodysplasia
    American Journal of Medical Genetics, vol. 66, no. 4, pp. 464–467, 1996
  83. Propositus with Weaver syndrome and his mildly-affected mother: Implication of nontraditional inheritance?
    American Journal of Medical Genetics, vol. 65, no. 4, pp. 249–251, 1996
  84. Trabecular trauma of the talus and medial malleolus concurrent with lateral collateral ligamentous injuries of the ankle: evaluation with MR imaging
    Skeletal Radiology, vol. 25, no. 1, pp. 49–54, 1996
  85. Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (fgfr-3) gene (gly to cys transition at codon 375)
    American Journal of Medical Genetics, vol. 59, no. 3, pp. 393–395, 1995
  86. Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)
    American Journal of Medical Genetics, vol. 49, no. 3, pp. 278–280, 1994
  87. Broad proximal phalanx, facial anomalies, hallux valgus, and bronchomalacia: Additional case
    American Journal of Medical Genetics, vol. 50, no. 2, pp. 211–212, 1994
  88. Atelosteogenesis Type 3: The First Patient in Japan and a Survivor for more than 1 year
    Pediatrics International, vol. 34, no. 5, pp. 543–546, 1992
  89. Upper GI examinations in older premature infants with persistent apnea: correlation with simultaneous cardiorespiratory monitoring
    Pediatric Radiology, vol. 18, no. 6, pp. 464–467, 1988