Papers - Kosaki Kenjiro
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Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene.
KOSAKI KENJIROMasuda K,Kobayashi Y,Kimura T,Umene K, Misu K,Nomura H,Hirasawa A,Banno K,Aoki D,Sugano K.
Hum Genome Var. 2016
Research paper (scientific journal), Joint Work
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Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts.
KOSAKI KENJIROUmeyama K, Watanabe K, Watanabe M, Horiuchi K, Nakano K, Kitashiro M, Matsunari H, Kimura T, Arima Y, Sampetrean O, Nagaya M, Saito M, Saya H, Nagashima H, Matsumoto M.
Sci Rep. 2016
Research paper (scientific journal), Joint Work
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Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
KOSAKI KENJIROTakenouchi T, Miura K, Uehara T, Mizuno S
Am J Med Genet. 170 ( (10) ) 2587 - 2590 2016
Research paper (scientific journal), Joint Work
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Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy.
KOSAKI KENJIRO188.Fukushima H, Takenouchi T
Am J Med Genet. 170 ( (9) ) 2453 - 2456 2016
Research paper (scientific journal), Joint Work
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Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.
KOSAKI KENJIROTakenouchi T, Yoshihashi H, Sakaguchi Y, Uehara T, Honda M, Takahashi T, Kosaki K, Miyama S.
Am J Med Genet 170 ( (12) ) 3249 - 3252 2016
Research paper (scientific journal), Joint Work
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Jacobsen syndrome, Braddock-Carey syndrome, and beyond: Reflections on intellectual disability accompanied with thrombocytopenia
KOSAKI KENJIROTakenouchi T, Kosaki K.
Am J Med Genet. 170 ( (10) ) 2578 - 2579 2016
Research paper (scientific journal), Joint Work
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Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
KOSAKI KENJIROTsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H.
Eur J Hum Genet. 24 ( (12) ) 1702 - 1706 2016
Research paper (scientific journal), Joint Work
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Systemic and maxillofacial characteristics of eleven Japanese children with Russell-Silver syndrome.
KOSAKI KENJIROSato C,Ogawa T,Tsuge R,Shiga M, Tsuji M,Baba Y,Moriyama K.
Congenit Anom. 56 ( (5) ) 217 - 225 2016
Research paper (scientific journal), Joint Work
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Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
KOSAKI KENJIRO Takenouchi T, Okamoto N, Ida S, Uehara T,
Am J Med Genet A 170 ( (4) ) 852 - 855 2016
Research paper (scientific journal), Joint Work
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ALDH18A1-related cutis laxa syndrome with cyclic vomiting
KOSAKI KENJIRONozaki F,Kusunoki T,Okamoto N, Yamamoto Y,Miya F,Tsunoda T,Kumada T,Shibata M,Fujii T.
Brain Dev 38 ( (7) ) 678 - 684 2016
Research paper (scientific journal)
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Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.
KOSAKI KENJIROMaeda J,Shiono J,Kouno K,Aeba R, Yamagishi H.
Heart Vessels. 31 ( (10) ) 1717 - 1723 2016
Research paper (scientific journal), Joint Work
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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
KOSAKI KENJIRO Taruscio D, Groft SC, Cederroth H, Melegh B, Lasko P, Baynam G, McCray A, Gahl WA.
Mol Genet Metab. 116 ( 4 ) 223 - 225 2015.12
Research paper (scientific journal), Joint Work
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A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.
KOSAKI KENJIRO Umeno J, Hisamatsu T, Esaki M, Hirano A, Kubokura N, Asano K, Kochi S, Yanai S, Fuyuno Y, Shimamura K, Hosoe N, Ogata H, Watanabe T, Aoyagi K, Ooi H, Watanabe K, Yasukawa S, Hirai F, Matsui T, Iida M, Yao T, Hibi T, Kanai T, Kitazono T, Matsumoto T.
PLoS Genet 11 ( 11 ) e1005581 2015.11
Research paper (scientific journal), Joint Work
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Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.
KOSAKI KENJIRO Takenouchi T, Kosaki R, Niizuma T, Hata K,
Am J Med Genet. 167 ( 11 ) 2822 - 2825 2015.11
Research paper (scientific journal), Joint Work
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TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
KOSAKI KENJIRO Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kojima S, Saitoh S, Kurahashi H, Natsume J.
Sci Rep 2015.10
Research paper (scientific journal), Joint Work
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Late-onset epileptic spasms in a female patient with a CASK mutation.
KOSAKI KENJIRONakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Yoshinaga H.
Brain Dev 37 ( 9 ) 919 - 923 2015.10
Research paper (scientific journal)
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Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.
KOSAKI KENJIROAkazawa Y, Inaba Y, Hachiya A, Motoki N, Matsuzaki S, Minatoya K, Morisaki T, Morisaki H, Kosho T, Koike K.
Am J Med Genet A 167 ( 10 ) 2435 - 2439 2015.10
Research paper (scientific journal), Joint Work
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Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders
KOSAKI KENJIROOkamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y
Clin Genet 88 ( 3 ) 288 - 292 2015.09
Research paper (scientific journal), Joint Work
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Adult Phenotype of Russell-Silver Syndrome: A Molecular Support for Barker-Brenner's Theory.
KOSAKI KENJIRO Takenouchi T, Awazu M, Eggermann T
Congenital Anom 55 ( 3 ) 167 - 169 2015.08
Research paper (scientific journal), Joint Work
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Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
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.
Brain Dev 37 ( 5 ) 515 - 526 2015.05
Research paper (scientific journal), Joint Work