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Clinical Dysmorphology|January 1, 1995
Osteodysplastic primordial dwarfism: a case with features of type IIM Masuno, K Imaizumi, G Nishimura, et al.Journal of Medical Genetics|December 10, 1997
Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2)M Masuno, K Imaizumi, Y Fukushima, et al.Journal of Medical Genetics|November 1, 1995
Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2)M Masuno, K Imaizumi, G Nishimura, et al.American Journal of Medical Genetics|May 22, 1995
Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25)Y Makita, M Masuno, K Imaizumi, et al.European Journal of Pediatrics|August 1, 1997
Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasiaG Nishimura, T Okada, K Tachibana, et al.American Journal of Medical Genetics|June 22, 2000
De novo trisomy 16p11.2-qter: report of an infantM Masuno, T Ishii, Y Tanaka, et al.American Journal of Medical Genetics|April 23, 1999
Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardationM Masuno, K Imaizumi, T Okada, et al.Genomics|June 1, 1993
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24M Masuno, S Tomatsu, Y Nakashima, et al.Journal of Medical Genetics|October 1, 1996
Currarino triad with a terminal deletion 7q35-->qterM Masuno, K Imaizumi, N Aida, et al.American Journal of Medical Genetics|April 24, 1999
Noonan syndrome and cavernous hemangioma of the brainY Tanaka, M Masuno, H Iwamoto, et al.Pageof 6