Katsuko Kuwajima

Boston Children's Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

11h-index498citations19works0.02yr avg
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Research Topics

Genetic Syndromes and Imprinting(4), Glycosylation and Glycoproteins Research(3), Epigenetics and DNA Methylation(2), Lysosomal Storage Disorders Research(2), Genomic variations and chromosomal abnormalities(2)

Publications19 total

A pediatric case of critical illness polyneuropathy: clinical and pathological findings
Brain and Development·2005· 6 cited
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms
Brain and Development·2004· 50 cited
[A case of bilateral coronal craniosynostosis with the P250R mutation in FGFR3 gene].
PubMed·2001· 1 cited
An AciI polymorphism in the 3′ untranslated region of the human phosphomannomutase 2 (PMM2) gene
Journal of Human Genetics·1999Open Access
Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I
Brain and Development·1999· 14 cited
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate‐deficient glycoprotein syndrome type 1
Clinical Genetics·1999· 22 cited
Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
Journal of Human Genetics·1998· 41 citedOpen Access
Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease
European Journal of Endocrinology·1998· 43 citedOpen Access
Brachmann-de Lange syndrome and congenital heart disease
American Journal of Medical Genetics·1998· 22 cited
Clinical spectrum and molecular diagnosis of Angelman and Prader‐Willi syndrome patients with an imprinting mutation
American Journal of Medical Genetics·1997· 3 cited
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
American Journal of Medical Genetics·1997· 141 cited
Hemizygosity at the elastin locus and clinical features of Williams syndrome
The American Journal of Human Genetics·1994· 2 cited
Familial occurrence of ring chromosome 15
Clinical Genetics·1992· 81 cited
Weaver syndrome in two Japanese children
American Journal of Medical Genetics·1991· 12 cited
Diagnostic hand anomalies in Smith–Magenis syndrome: Four new patients with del (17)(p11.2p11.2)
American Journal of Medical Genetics·1991· 28 cited
A Japanese male infant with the weaver syndrome
The Japanese Journal of Human Genetics·1990· 6 citedOpen Access
A Japanese patient with the Dubowitz syndrome
Clinical Genetics·1987· 9 cited
TL-201 SCINTIGRAPHY BY INTRA-ARTERIAL INJECTION IN BONE AND SOFT-TISSUE LESIONS OF LOWER-EXTREMITIES
1981· 2 cited
Lipoma of the Corpus callosum: Report of a Case and Review of the Literature
Pediatric Neurosurgery·1979· 15 cited

Frequent Co-authors

Ikuko Kondo(11), Kiyomi Mizugishi(4), Norio Niikawa(3), Shinji Saitoh(2), Karin Buiting(2), Suzanne B. Cassidy(2), Jeffrey M. Conroy(2), Daniel J. Driscoll(2), James M. Gabriel(2), Gabriele Gillessen‐Kaesbach(2), Christopher C. Glenn(2), Louise R. Greenswag(2), Bernhard Horsthemke(2), Peter K. Rogan(2), Stuart Schwartz(2), James R. Seip(2), Charles A. Williams(2), Robert D. Nicholls(2), Keiko Yamanaka(2), Ikuko Kondo(2)