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Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms.
Published in:
Journal of Human Genetics, 2010, v. 55, n. 10, p. 656, doi. 10.1038/jhg.2010.82
By:
- Akiyama, Koichi;
- Narita, Akira;
- Nakaoka, Hirofumi;
- Cui, Tailin;
- Takahashi, Tomoko;
- Yasuno, Katsuhito;
- Tajima, Atsushi;
- Krischek, Boris;
- Yamamoto, Ken;
- Kasuya, Hidetoshi;
- Hata, Akira;
- Inoue, Ituro
Publication type:
Article
Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 11, p. 907, doi. 10.1007/s10038-007-0193-7
By:
- Maeda, Kouji;
- Kaji, Ryuji;
- Yasuno, Katsuhito;
- Jambaldorj, Jamiyansuren;
- Nodera, Hiroyuki;
- Takashima, Hiroshi;
- Nakagawa, Masanori;
- Makino, Satoshi;
- Tamiya, Gen
Publication type:
Article
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Published in:
Nature Genetics, 2011, v. 43, n. 6, p. 590, doi. 10.1038/ng.836
By:
- Barak, Tanyeri;
- Kwan, Kenneth Y.;
- Louvi, Angeliki;
- Demirbilek, Veysi;
- Saygı, Serap;
- Tüysüz, Beyhan;
- Choi, Murim;
- Boyacı, Hüseyin;
- Doerschner, Katja;
- Ying Zhu;
- Kaymakçalan, Hande;
- Yılmaz, Saliha;
- Bakırcıoğlu, Mehmet;
- Çağlayan, Ahmet Okay;
- Öztürk, Ali Kemal;
- Yasuno, Katsuhito;
- Brunken, William J.;
- Atalar, Ergin;
- Yalçınkaya, Cengiz;
- Dinçer, Alp
Publication type:
Article
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
Published in:
Nature Genetics, 2010, v. 42, n. 5, p. 420, doi. 10.1038/ng.563
By:
- Yasuno, Katsuhito;
- Bilguvar, Kaya;
- Bijlenga, Philippe;
- Siew-Kee Low;
- Krischek, Boris;
- Auburger, Georg;
- Simon, Matthias;
- Krex, Dietmar;
- Arlier, Zulfikar;
- Nayak, Nikhil;
- Ruigrok, Ynte M.;
- Niemelä, Mika;
- Tajima, Atsushi;
- von und zu Fraunberg, Mikael;
- Dóczi, Tamás;
- Wirjatijasa, Florentina;
- Hata, Akira;
- Blasco, Jordi;
- Oszvald, Agi;
- Kasuya, Hidetoshi
Publication type:
Article
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
Published in:
Nature Genetics, 2008, v. 40, n. 12, p. 1472, doi. 10.1038/ng.240
By:
- Bilguvar, Kaya;
- Yasuno, Katsuhito;
- Niemelä, Mika;
- Ruigrok, Ynte M.;
- von und zu Fraunberg, Mikael;
- van Duijn, Cornelia M.;
- van den Berg, Leonard H.;
- Mane, Shrikant;
- Mason, Christopher E.;
- Choi, Murim;
- Gaál, Emília;
- Bayri, Yasar;
- Kolb, Luis;
- Arlier, Zulfikar;
- Ravuri, Sudhakar;
- Ronkainen, Antti;
- Tajima, Atsushi;
- Laakso, Aki;
- Hata, Akira;
- Kasuya, Hidetoshi
Publication type:
Article
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Published in:
Nature, 2010, v. 467, n. 7312, p. 207, doi. 10.1038/nature09327
By:
- Bilgüvar, Kaya;
- Öztürk, Ali Kemal;
- Louvi, Angeliki;
- Kwan, Kenneth Y.;
- Choi, Murim;
- Tatlı, Burak;
- Yalnızoğlu, Dilek;
- Tüysüz, Beyhan;
- Çağlayan, Ahmet Okay;
- Gökben, Sarenur;
- Kaymakçalan, Hande;
- Barak, Tanyeri;
- Bakırcıoğlu, Mehmet;
- Yasuno, Katsuhito;
- Winson Ho;
- Sanders, Stephan;
- Ying Zhu;
- Yılmaz, Sanem;
- Dinçer, Alp;
- Johnson, Michele H.
Publication type:
Article
Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 230, doi. 10.1002/mgg3.364
By:
- Yilmaz, Saliha;
- Uludağ Alkaya, Dilek;
- Kasapçopur, Özgür;
- Barut, Kenan;
- Akdemir, Ekin S.;
- Celen, Cemre;
- Youngblood, Mark W.;
- Yasuno, Katsuhito;
- Bilguvar, Kaya;
- Günel, Murat;
- Tüysüz, Beyhan
Publication type:
Article
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2 D as a recurrently mutated gene.
Published in:
Genes, Chromosomes & Cancer, 2015, v. 54, n. 9, p. 542, doi. 10.1002/gcc.22267
By:
- Juhlin, C. Christofer;
- Stenman, Adam;
- Haglund, Felix;
- Clark, Victoria E.;
- Brown, Taylor C.;
- Baranoski, Jacob;
- Bilguvar, Kaya;
- Goh, Gerald;
- Welander, Jenny;
- Svahn, Fredrika;
- Rubinstein, Jill C.;
- Caramuta, Stefano;
- Yasuno, Katsuhito;
- Günel, Murat;
- Bäckdahl, Martin;
- Gimm, Oliver;
- Söderkvist, Peter;
- Prasad, Manju L.;
- Korah, Reju;
- Lifton, Richard P.
Publication type:
Article
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.
Published in:
Neurogenetics, 2010, v. 11, n. 3, p. 319, doi. 10.1007/s10048-009-0232-y
By:
- Kolb, Luis;
- Arlier, Zulfikar;
- Yalcinkaya, Cengiz;
- Ozturk, Ali;
- Moliterno, Jennifer;
- Erturk, Ozdem;
- Bayrakli, Fatih;
- Korkmaz, Baris;
- DiLuna, Michael;
- Yasuno, Katsuhito;
- Bilguvar, Kaya;
- Ozcelik, Tayfun;
- Tuysuz, Beyhan;
- State, Matthew;
- Gunel, Murat
Publication type:
Article
Glutathione- S-transferase-1 and interleukin-1β gene polymorphisms in Japanese patients with Parkinson's disease.
Published in:
Movement Disorders, 2005, v. 20, n. 7, p. 901, doi. 10.1002/mds.20477
By:
- Nishimura, Masataka;
- Kuno, Sadako;
- Kaji, Ryuji;
- Yasuno, Katsuhito;
- Kawakami, Hideshi
Publication type:
Article
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0401-9
By:
- Erson-Omay, E. Zeynep;
- Henegariu, Octavian;
- Omay, S. Bülent;
- Harmancı, Akdes Serin;
- Youngblood, Mark W.;
- Mishra-Gorur, Ketu;
- Jie Li;
- Özduman, Koray;
- Carrión-Grant, Geneive;
- Clark, Victoria E.;
- Çağlar, Caner;
- Bakırcıoğlu, Mehmet;
- Pamir, M. Necmettin;
- Tabar, Viviane;
- Vortmeyer, Alexander O.;
- Bilguvar, Kaya;
- Katsuhito Yasuno;
- DeAngelis, Lisa M.;
- Baehring, Joachim M.;
- Moliterno, Jennifer
Publication type:
Article

Found: 11