Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Atsuko Fujimoto"'
Autor:
Noriko Miyake, Meghan Gillespie, Naomichi Matumoto, Jeanne Morin-Leisk, Atsuko Fujimoto, Shoji Yano, Harry Gao
Publikováno v:
Clinical Genetics. 94:487-488
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc9e34e7089dcc6197782589b6118eb4
https://doi.org/10.1111/cge.13436
https://doi.org/10.1111/cge.13436
Publikováno v:
Clinical Genetics. 21:107-111
Two children born to the same mother but two different fathers have brachydactyly in which the proximal phalanges of all the digits are shortened. The mother's hands are normal. The same condition occurring in two half-siblings born to a non-affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0a93f52c9a1684267026359b9f4aa6
https://doi.org/10.1111/j.1399-0004.1982.tb00745.x
https://doi.org/10.1111/j.1399-0004.1982.tb00745.x
Publikováno v:
American Journal of Medical Genetics. 77:268-271
A de novo direct duplication of 9p22p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting probe as well as 6 YAC DNA probes localized to the 9p13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc2755c1f08d50d3df2eed485b94af94
https://doi.org/10.1002/(sici)1096-8628(19980526)77:4<268::aid-ajmg3>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980526)77:4<268::aid-ajmg3>3.0.co
Publikováno v:
American Journal of Medical Genetics. 75:78-81
A 17-year-old boy who was diagnosed with “Waardenburg syndrome” showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd826799ca94364004e372e32bc94fac
https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<78::aid-ajmg16>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<78::aid-ajmg16>3.0.co
Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC
Publikováno v:
American Journal of Medical Genetics. 68:25-28
Ehlers-Danlos syndrome (EDS) type VIIC is a newly recognized human disorder which results from failure to remove the amino-terminal propeptide of type I procollagen. Four cases of EDS type VIIC have been reported, and here we describe a fifth case. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59a8fce8091bd760acf7227933d34a0d
https://doi.org/10.1002/(sici)1096-8628(19970110)68:1<25::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970110)68:1<25::aid-ajmg5>3.0.co
Autor:
Atsushi Yamagishi, Yasuyuki Suzuki, Kouji Isogai, Naomi Kondo, Atsuko Fujimoto, William S. Sly, Tadao Orii, Shunji Tomatsu, Nobuyuki Shimozawa, Paola Di Natale, Seiji Fukuda, Alan Cooper, Zenichiro Kato, Kazuko Sukegawa, Patrick Ferreira, James E. Wraith, Paolo Tortora, Naoto Yamada
Publikováno v:
Human Mutation. 10:368-375
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase. Here, we report our analysis of data on 21 patients of diverse ethnic and geographic origins stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53ea0d86c5b3cfbf9090479e772955cf
https://doi.org/10.1002/(sici)1098-1004(1997)10:5<368::aid-humu6>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1997)10:5<368::aid-humu6>3.0.co
Publikováno v:
Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan. 133(11)
In recent years there have been over 30000 suicides annually in Japan. This is one of the most serious problems for Japanese society. Because mental disorder is closely associated with suicide, factors related to the increase in mental disorders and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d969fa5f584e719f7604efb1454042b9
https://pubmed.ncbi.nlm.nih.gov/24189564
https://pubmed.ncbi.nlm.nih.gov/24189564
Autor:
Cynthia C. Morton, Ying Yang, Quynh Duong, Michelle Long, Irfan Saadi, Yoshimi Takai, Maiko Inagaki, Atsuko Fujimoto, Anne W. Higgins, Richard L. Maas, Salil A. Lachke, Bradley J. Quade, Irit Shapira, Benny Motro, Jun Miyoshi, Qiongchao Xi, Michael E. Talkowski, Michael L. Robinson, James F. Gusella
We describe a male patient (patient DGAP113) with a balanced translocation, 46,XY,t(1;3)(q31.3;q13.13), severe bilateral congenital cataracts, CNS abnormalities and mild developmental delay. Fluorescence in situ hybridization (FISH) and suppression P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbb97b69b98b363a3d26483da758d799
https://europepmc.org/articles/PMC3279124/
https://europepmc.org/articles/PMC3279124/
Publikováno v:
Mutation Research Letters. 301:229-233
Effects of 5-hydroxymethyl-2′-deoxyuridine (HmdUrd, a thymidine analog) and 3-aminobenzamide (3AB) on chromosome aberrations in cultured human lymphocytes were studied. The results show that HmdUrd is an effective clastogen in human peripheral lymp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::674f7d01ae3e7ffc123419d2da01139b
https://doi.org/10.1016/0165-7992(93)90062-z
https://doi.org/10.1016/0165-7992(93)90062-z
Publikováno v:
Die Makromolekulare Chemie. 191:1261-1268
27- and 36-membered ring peptides were prepared using glycine, (2S, 3′ S)-4-methyl-2-(2′-oxo-3′-isobutyl-1′-piperazinyl) pentanoic acid (2) and (2S,3′ S)-3-phenyl-2-(2′-oxo-3′-benzyl-1′-piperazinyl)propanoic acid as the units of pepti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06880a7f4ad79d373be1dfd5d7a2b17f
https://doi.org/10.1002/macp.1990.021910605
https://doi.org/10.1002/macp.1990.021910605