Tomoki Kosho

Summary

Affiliation: Shinshu University
Country: Japan

Publications

  1. doi request reprint Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 161:1531-42. 2013
  2. doi request reprint A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 152:1333-46. 2010
  3. doi request reprint Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation
    Masanori Yamazaki
    Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 152:764-9. 2010
  4. doi request reprint Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature
    Mitsuo Motobayashi
    Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 158:861-8. 2012
  5. doi request reprint Myelodysplastic syndrome in a child with 15q24 deletion syndrome
    Yoko Narumi
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 158:412-6. 2012
  6. ncbi request reprint Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 140:937-44. 2006
  7. doi request reprint Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
    Keiko Tanaka
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    J Hum Genet 58:560-3. 2013
  8. doi request reprint Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36
    Shoji Saito
    Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 146:2891-7. 2008
  9. doi request reprint Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 161:1221-37. 2013
  10. doi request reprint Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome
    Yoko Narumi
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 161:518-26. 2013

Collaborators

Detail Information

Publications19

  1. doi request reprint Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 161:1531-42. 2013
    ..The family point of view, as well as knowledge of natural history, should be considered when policy statements about the care of children with trisomy 18 are made...
  2. doi request reprint A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 152:1333-46. 2010
    ....
  3. doi request reprint Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation
    Masanori Yamazaki
    Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 152:764-9. 2010
    ..This is the first report of detailed longitudinal observation of a patient with CRLF1 abnormalities, compatible with the notion that CISS and CS may be a single clinical entity...
  4. doi request reprint Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature
    Mitsuo Motobayashi
    Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 158:861-8. 2012
    ....
  5. doi request reprint Myelodysplastic syndrome in a child with 15q24 deletion syndrome
    Yoko Narumi
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 158:412-6. 2012
    ..Further hematological investigation is recommended to be beneficial if physical and hematological examination results are suggestive of hematopoietic disturbance in patients with the syndrome...
  6. ncbi request reprint Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 140:937-44. 2006
    ..These data of improved survival, through neonatal intensive treatment, are helpful for clinicians to offer the best information on treatment options to families of patients with trisomy 18...
  7. doi request reprint Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
    Keiko Tanaka
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    J Hum Genet 58:560-3. 2013
    ..Institutional arrangements, such as revision of medical insurance system regarding genetic testing and counseling, might be necessary to resolve this issue. ..
  8. doi request reprint Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36
    Shoji Saito
    Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 146:2891-7. 2008
    ..An atypically large deletion in this patient might be the basis for the development of these features and the severe clinical course...
  9. doi request reprint Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 161:1221-37. 2013
    ..Because of the common underlying mechanism and overlapping clinical features, we propose that these conditions be referred to collectively as "SWI/SNF-related ID syndromes"...
  10. doi request reprint Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome
    Yoko Narumi
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 161:518-26. 2013
    ..Acroosteolysis was observed in two patients with SFPKS and bowing fibulae were found in two patients with HCS. These clinical and molecular data would support the notion that HCS and SFPKS are a single disorder...
  11. ncbi request reprint Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 138:282-7. 2005
    ..They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB...
  12. ncbi request reprint De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Clin Dysmorphol 17:31-4. 2008
    ..Speech impairment in the girl might be derived from dysfunction of FOXP2 by a position effect of the 7q31 translocation breakpoint...
  13. doi request reprint Surgical intervention for esophageal atresia in patients with trisomy 18
    Eriko Nishi
    Division of Medical Genetics, Nagano Children s Hospital, Azumino, Japan Department of Medical Genetics, Shinshu University Graduate School of Medicine, Matsumoto, Japan
    Am J Med Genet A 164:324-30. 2014
    ..Most causes of death were related to cardiac complications. EA is not an absolute poor prognostic factor in patients with trisomy 18 undergoing radical surgery for EA and intensive cardiac management. © 2013 Wiley Periodicals, Inc. ..
  14. doi request reprint Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature
    Yoko Narumi
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 152:3143-7. 2010
    ..We recommend that clinical investigations of genital abnormalities are considered in patients with PHS, even those without hypopituitarism...
  15. ncbi request reprint Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk
    Yoshiki Sekijima
    Clin Ther 32:2048-52. 2010
    ..However, there have been no published reports regarding the excretion of imiglucerase into human breast milk and its effects on the nursing infant...
  16. doi request reprint Care of children with trisomy 18 in Japan
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 146:1369-71. 2008
  17. ncbi request reprint Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 143:2598-603. 2007
    ..Treatment with bisphosphonates to inhibit osteoclast activity is likely to be beneficial...
  18. ncbi request reprint Brothers with genu recurvatum
    Naoto Saito
    Department of Applied Physical Therapy, Shinshu University School of Health Science, Matsumoto, Nagano, Japan
    Knee 14:500-1. 2007
    ..There was no history of trauma, or other orthopaedic or genetic disorders. These features strongly suggested involvement of heritable risk factors...
  19. ncbi request reprint [Beckwith-Wiedemann syndrome]
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine
    Nihon Rinsho . 2006