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Results: 1-19 |
Results: 19
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome
Authors: Murata, T Kurokawa, R Krones, A Tatsumi, K Ishii, M Taki, T Masuno, M Ohashi, H Yanagisawa, M Rosenfeld, MG Glass, CK Hayashi, Y
Citation: T. Murata et al., Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome, HUM MOL GEN, 10(10), 2001, pp. 1071-1076
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation
Authors: Masuno, M Imaizumi, K Aida, N Nishimura, G Kimura, J Kuroki, Y
Citation: M. Masuno et al., Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation, CLIN DYSMOR, 9(1), 2000, pp. 59-60
A case of Noonan's syndrome with possible associated neuroblastoma
Authors: Ijiri, R Tanaka, Y Keisuke, K Masuno, M Imaizumi, K
Citation: R. Ijiri et al., A case of Noonan's syndrome with possible associated neuroblastoma, PEDIAT RAD, 30(6), 2000, pp. 432-432
De novo trisomy 16p11.2-qter: Report of an infant
Authors: Masuno, M Ishii, T Tanaka, Y Ohyama, M Kawataki, M Kimura, J Imaizumi, K Kuroki, Y
Citation: M. Masuno et al., De novo trisomy 16p11.2-qter: Report of an infant, AM J MED G, 92(5), 2000, pp. 308-310
Young-Simpson syndrome comprising transient hypothyroidism, normal growth,macular degeneration and torticolis
Authors: Kondoh, T Kinoshita, E Moriuchi, H Niikawa, N Matsumoto, T Masuno, M
Citation: T. Kondoh et al., Young-Simpson syndrome comprising transient hypothyroidism, normal growth,macular degeneration and torticolis, AM J MED G, 90(1), 2000, pp. 85-86
Congenital primitive epithelial tumor of the liver showing focal rhabdoid features, placental involvement, and clinical features mimicking multifocalhemangioma or stage 4S neuroblastoma
Authors: Ohyama, M Ijiri, R Tanaka, Y Kato, K Aida, N Ohnuma, K Sho, N Masuno, M Misugi, K
Citation: M. Ohyama et al., Congenital primitive epithelial tumor of the liver showing focal rhabdoid features, placental involvement, and clinical features mimicking multifocalhemangioma or stage 4S neuroblastoma, HUMAN PATH, 31(2), 2000, pp. 259-263
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients
Authors: Nakamura, A Matsuura, S Tauchi, H Hanada, R Ohashi, H Hasegawa, T Honda, K Masuno, M Imaizumi, K Sugita, K Ide, T Komatsu, K
Citation: A. Nakamura et al., Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients, J HUM GENET, 44(1), 1999, pp. 48-51
Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: Molecular analysis in four patients
Authors: Muroya, K Ishii, T Nakahori, Y Asakura, Y Tachibana, K Masuno, M Imaizumi, K Tanaka, Y Kawada, Y Yukizane, S Ogata, T
Citation: K. Muroya et al., Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: Molecular analysis in four patients, GENE CHROM, 25(1), 1999, pp. 40-45
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
Authors: Kubota, T Nonoyama, S Tonoki, H Masuno, M Imaizumi, K Kojima, M Wakui, K Shimadzu, M Fukushima, Y
Citation: T. Kubota et al., A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR, HUM GENET, 104(1), 1999, pp. 49-55
Apple-Peel intestinal atresia associated with balanced reciprocal translocation t(2;3)(q31.3;p24.2) mat
Authors: Imaizumi, R Kimura, J Masuno, M Kuroki, Y Nishi, T
Citation: R. Imaizumi et al., Apple-Peel intestinal atresia associated with balanced reciprocal translocation t(2;3)(q31.3;p24.2) mat, AM J MED G, 87(5), 1999, pp. 434-435
Toriello-Carey syndrome with endocardial fibroelastosis
Authors: Ohta, H Masuno, M Kimura, J Imaizumi, K Kuroki, Y Yasui, S Aida, N Tanaka, Y
Citation: H. Ohta et al., Toriello-Carey syndrome with endocardial fibroelastosis, AM J MED G, 87(3), 1999, pp. 271-272
Association of microphthalmia with esophageal atresia: Report of two new patients and review of the literature
Authors: Imaizumi, K Ishii, T Kimura, J Masuno, M Kuroki, Y
Citation: K. Imaizumi et al., Association of microphthalmia with esophageal atresia: Report of two new patients and review of the literature, AM J MED G, 87(2), 1999, pp. 180-182
Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation
Authors: Goobie, S Morrison, J Ginzberg, H Ellis, L Corey, M Masuno, M Imaizumi, K Kuroki, Y Fujiwara, TM Morgan, K Durie, PR Rommens, JM
Citation: S. Goobie et al., Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation, AM J MED G, 85(2), 1999, pp. 171-174
Supernumerary ring chromosome 5 identified by FISH
Authors: Masuno, M Imaizumi, K Ishii, T Kimura, J Kuroki, Y
Citation: M. Masuno et al., Supernumerary ring chromosome 5 identified by FISH, AM J MED G, 84(4), 1999, pp. 381-381
Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation
Authors: Masuno, M Imaizumi, K Okada, T Adachi, M Nishimura, G Ishii, T Tachibana, K Kuroki, Y
Citation: M. Masuno et al., Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation, AM J MED G, 84(1), 1999, pp. 8-11
Noonan syndrome and cavernous hemangioma of the brain
Authors: Tanaka, Y Masuno, M Iwamoto, H Aida, N Ijiri, R Yamanaka, S Imaizumi, K Kuroki, Y
Citation: Y. Tanaka et al., Noonan syndrome and cavernous hemangioma of the brain, AM J MED G, 82(3), 1999, pp. 212-214
Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene
Authors: Ikegawa, S Masuno, M Kumano, Y Okawa, A Isomura, M Koyama, M Okui, K Makita, Y Sasaki, M Kohdera, U Okuda, M Koyama, H Ohashi, H Tajiri, H Imaizumi, K Nakamura, Y
Citation: S. Ikegawa et al., Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene, CLIN GENET, 55(6), 1999, pp. 466-472
Radical resection with autonomic nerve preservation and lymph node dissection techniques in Tower rectal cancer surgery and its results: the impact of lateral lymph node dissection
Authors: Mori, T Takahashi, K Masuno, M
Citation: T. Mori et al., Radical resection with autonomic nerve preservation and lymph node dissection techniques in Tower rectal cancer surgery and its results: the impact of lateral lymph node dissection, LANG ARCH S, 383(6), 1998, pp. 409-415
Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome
Authors: Sakamoto, M Ono, J Okada, S Masuno, M Nakamura, Y Kurahashi, H
Citation: M. Sakamoto et al., Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome, HUM GENET, 103(5), 1998, pp. 586-589
Risultati: 1-19 |