Published papers
Kosaki Kenjiro
81-100 items (total 326)
Late-onset epileptic spasms in a female patient with a CASK mutation.
- Author
- KOSAKI KENJIRONakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Yoshinaga H.
- Publication Title
- Magazine name Brain Dev Volume 37(Issue 9) Start Page 919 - End Page 923 (Publication Date）2015/10）
- Publication Category
- Research paper (scientific journal)
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders
- Author
- KOSAKI KENJIROOkamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y
- Publication Title
- Magazine name Clin Genet Volume 88(Issue 3) Start Page 288 - End Page 292 (Publication Date）2015/09）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Adult Phenotype of Russell-Silver Syndrome: A Molecular Support for Barker-Brenner's Theory.
- Author
- KOSAKI KENJIRO Takenouchi T, Awazu M, Eggermann T
- Publication Title
- Magazine name Congenital Anom Volume 55(Issue 3) Start Page 167 - End Page 169 (Publication Date）2015/08）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
- Author
- KOSAKI KENJIRO Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Izumi T, Nagai T, Yamamoto T.
- Publication Title
- Magazine name Brain Dev Volume 37(Issue 5) Start Page 515 - End Page 526 (Publication Date）2015/05）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM.
- Author
- KOSAKI KENJIRONakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Tanaka S, Kato M.
- Publication Title
- Magazine name Pediatr Neurol Volume 52(Issue 5) Start Page e7 - End Page e8 (Publication Date）2015/05）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation
- Author
- KOSAKI KENJIROTakenouchi T, Sakamoto Y, Torii C, Hata K, Kosaki R
- Publication Title
- Magazine name Am J Med Genet A Volume 167(Issue 4) Start Page 907 - End Page 909 (Publication Date）2015/04）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3
- Author
- KOSAKI KENJIROHarada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kanemura Y, Yamasaki M
- Publication Title
- Magazine name Childs Nerv Syst Volume 31(Issue 3) Start Page 465 - End Page 471 (Publication Date）2015/03）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.
- Author
- KOSAKI KENJIRO Miya F, Kato M, Shiohama T, Okamoto N, Saitoh S, Yamasaki M, Shigemizu D, Abe T, Morizono T, Boroevich KA, Kanemura Y, Tsunoda T.
- Publication Title
- Magazine name Sci Rep Volume 19(Issue 5) Start Page 9331 (Publication Date）2015/03）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation
- Author
- KOSAKI KENJIRO161.Takenouchi T, Yamaguchi Y,1 Tanikawa A, Kosaki R, Okano H, Kosaki K.
- Publication Title
- Magazine name J Pediatr Volume 166(Issue (2)) Start Page 483 - End Page 486 (Publication Date）2015/02）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Paramagnetic Signals in the Globus Pallidus as Late Radiographic Sign of Juvenile-Onset GM1 Gangliosidosis.
- Author
- KOSAKI KENJIRO159.Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Pediatr Neurol. Volume 166(Issue (2)) Start Page 483 - End Page 486 (Publication Date）2015/02）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Truncating mutation in NFIA causes brain malformation and urinary tract defects
- Author
- KOSAKI KENJIRONegishi Y,Miya F,Hattori A,Mizuno K, Hori I ,Ando N, Okamoto N,Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Saitoh S
- Publication Title
- Magazine name Human Genome Variation Start Page 15007 (Publication Date）2015/02）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation.
- Author
- KOSAKI KENJIRO Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet Volume 167(Issue (1)) Start Page 156 - End Page 158 (Publication Date）2015/01）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension.
- Author
- Hiraide T, Kataoka M, Suzuki H, Aimi Y, Chiba T, Kanekura K, Satoh T, Fukuda K, Gamou S, Kosaki K.
- Publication Title
- Magazine name Am J Respir Crit Care Med. Volume 198(Issue 9) Start Page 1231 - End Page 1233 (Publication Date）2018/11）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation
- Author
- Kawaguchi T, Yoshida T, Hirahashi J, Uehara T, Takenouchi T, Kosaki K, Itoh H, Hayashi M.
- Publication Title
- Magazine name Nephron. Volume 140(Issue 1) Start Page 74 - End Page 78 (Publication Date）2018/07）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1.
- Author
- Yoshida Y, Ehara Y, Kosaki K, Yamamoto O.
- Publication Title
- Magazine name J Dermatol. Volume 45(Issue 3) Start Page 363 - End Page 364 (Publication Date）2018/03）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
- Author
- KOSAKI KENJIROBaynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.
- Publication Title
- Magazine name Adv Exp Med Biol. Start Page 55 - End Page 94 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.
- Author
- KOSAKI KENJIROHasegawa D, Ochiai-Shino H, Onodera S, Nakamura T, Saito A, Onda T, Watanabe K, Nishimura K, Ohtaka M, Nakanishi M, Kosaki K, Yamaguchi A, Shibahara T, Azuma T.
- Publication Title
- Magazine name PLoS One. Volume 12(Issue 10) Start Page e0186879 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
A genome-wide association analysis identifies PDE1A|DNAJC10 locus on chromosome 2 associated with idiopathic pulmonary arterial hypertension in a Japanese population.
- Author
- KOSAKI KENJIROKimura M, Tamura Y, Guignabert C, Takei M, Kosaki K, Tanabe N, Tatsumi K, Saji T, Satoh T, Kataoka M, Kamitsuji S, Kamatani N, Thuillet R, Tu L, Humbert M, Fukuda K, Sano M.
- Publication Title
- Magazine name Oncotarget. Volume 8(Issue 43) Start Page 74917 - End Page 74926 (Publication Date）2017）
- Publication Category
- Research paper (scientific journal)
Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification.
- Author
- KOSAKI KENJIROEhara Y, Yamamoto O, Kosaki K, Yoshida Y.
- Publication Title
- Magazine name J Dermatol. Volume 44(Issue 11) Start Page 1262 - End Page 1267 (Publication Date）2017）
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak
- Author
- KOSAKI KENJIROOhto T, Enokizono T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K.
- Publication Title
- Magazine name Hum Genome Var. Start Page 17033 (Publication Date）2017）
- Peer-review Status
- With