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Hirobumi Sugawara

Nagasaki University

7

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184

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A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy

2004 American Journal of Medical Genetics Part A
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Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

2003 American Journal of Human Genetics
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Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

2003 Genomics
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Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia

2002 Journal of Medical Genetics
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A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

2002 Journal of Human Genetics
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Duplication of 8p23.2: A benign cytogenetic variant?

2002 American Journal of Medical Genetics
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Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?

2001 American Journal of Medical Genetics
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