| Year |
Citation |
Score |
| 2019 |
Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate. Journal of Human Genetics. PMID 31028281 DOI: 10.1038/S10038-019-0610-8 |
0.327 |
|
| 2018 |
Hori I, Miya F, Negishi Y, Hattori A, Ando N, Boroevich KA, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. Journal of Human Genetics. PMID 29907875 DOI: 10.1038/S10038-018-0482-3 |
0.38 |
|
| 2017 |
Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. American Journal of Medical Genetics. Part A. PMID 28777490 DOI: 10.1002/Ajmg.A.38391 |
0.392 |
|
| 2017 |
Okamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Siblings with optic neuropathy and RTN4IP1 mutation. Journal of Human Genetics. PMID 28638143 DOI: 10.1038/Jhg.2017.68 |
0.314 |
|
| 2017 |
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, ... ... Yamasaki M, et al. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Scientific Reports. 7: 3552. PMID 28615637 DOI: 10.1038/S41598-017-02840-8 |
0.39 |
|
| 2017 |
Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. Journal of Human Genetics. PMID 28515470 DOI: 10.1038/Jhg.2017.53 |
0.388 |
|
| 2017 |
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Novel MCA/ID syndrome with ASH1L mutation. American Journal of Medical Genetics. Part A. PMID 28394464 DOI: 10.1002/Ajmg.A.38193 |
0.356 |
|
| 2016 |
Hamada N, Negishi Y, Mizuno M, Miya F, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Tabata H, Saitoh S, Nagata KI. Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: Possible involvement in periventricular nodular heterotopia and intellectual disability. Journal of Neurochemistry. PMID 27787898 DOI: 10.1111/Jnc.13878 |
0.301 |
|
| 2016 |
Bamba Y, Shofuda T, Kato M, Pooh RK, Tateishi Y, Takanashi J, Utsunomiya H, Sumida M, Kanematsu D, Suemizu H, Higuchi Y, Akamatsu W, Gallagher D, Miller FD, Yamasaki M, et al. In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. Molecular Brain. 9: 70. PMID 27431206 DOI: 10.1186/S13041-016-0246-Y |
0.371 |
|
| 2016 |
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. American Journal of Medical Genetics. Part A. PMID 27075689 DOI: 10.1002/Ajmg.A.37653 |
0.372 |
|
| 2015 |
Negishi Y, Miya F, Hattori A, Mizuno K, Hori I, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Truncating mutation in NFIA causes brain malformation and urinary tract defects. Human Genome Variation. 2: 15007. PMID 27081522 DOI: 10.1038/Hgv.2015.7 |
0.323 |
|
| 2015 |
Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, et al. TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Scientific Reports. 5: 15165. PMID 26493046 DOI: 10.1038/Srep15165 |
0.356 |
|
| 2015 |
Yamasaki M, Kanemura Y. Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases. Neurologia Medico-Chirurgica. 55: 640-6. PMID 26227058 DOI: 10.2176/Nmc.Ra.2015-0075 |
0.334 |
|
| 2015 |
Miya F, Kato M, Shiohama T, Okamoto N, Saitoh S, Yamasaki M, Shigemizu D, Abe T, Morizono T, Boroevich KA, Kosaki K, Kanemura Y, Tsunoda T. A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. Scientific Reports. 5: 9331. PMID 25786579 DOI: 10.1038/Srep09331 |
0.31 |
|
| 2015 |
Nakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M. Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM. Pediatric Neurology. 52: e7-8. PMID 25765464 DOI: 10.1016/J.Pediatrneurol.2015.01.019 |
0.315 |
|
| 2015 |
Harada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kosaki K, Kanemura Y, Yamasaki M. Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. Child's Nervous System : Chns : Official Journal of the International Society For Pediatric Neurosurgery. 31: 465-71. PMID 25416470 DOI: 10.1007/S00381-014-2589-Y |
0.335 |
|
| 2014 |
Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. KIF1A mutation in a patient with progressive neurodegeneration. Journal of Human Genetics. 59: 639-41. PMID 25253658 DOI: 10.1038/Jhg.2014.80 |
0.365 |
|
| 2014 |
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K. Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. Clinical Genetics. PMID 25156961 DOI: 10.1111/Cge.12492 |
0.369 |
|
| 2014 |
Serikawa T, Nishiyama K, Tohyama J, Tazawa R, Goto K, Kuriyama Y, Haino K, Kanemura Y, Yamasaki M, Nakata K, Takakuwa K, Enomoto T. Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene. Congenital Anomalies. 54: 243-5. PMID 25039760 DOI: 10.1111/Cga.12069 |
0.331 |
|
| 2014 |
Kanemura Y, Ichimura K, Shofuda T, Nishikawa R, Yamasaki M, Taylor MD, Arai H, Shibui S. GE-16 * JAPANESE PEDIATRIC MOLECULAR NEURO-ONCOLOGY GROUP (JPMNG): ESTABLISHMENT OF A NATIONWIDE MOLECULAR DIAGNOSTIC NETWORK FOR PEDIATRIC MALIGNANT BRAIN TUMORS IN JAPAN Neuro-Oncology. 16: v99-v100. DOI: 10.1093/Neuonc/Nou256.16 |
0.305 |
|
| 2013 |
Shofuda T, Kanematsu D, Fukusumi H, Yamamoto A, Bamba Y, Yoshitatsu S, Suemizu H, Nakamura M, Sugimoto Y, Furue MK, Kohara A, Akamatsu W, Okada Y, Okano H, Yamasaki M, et al. Human Decidua-Derived Mesenchymal Cells Are a Promising Source for the Generation and Cell Banking of Human Induced Pluripotent Stem Cells. Cell Medicine. 4: 125-47. PMID 26858858 DOI: 10.3727/215517912X658918 |
0.308 |
|
| 2013 |
Itoh K, Pooh R, Kanemura Y, Yamasaki M, Fushiki S. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. Neuropathology : Official Journal of the Japanese Society of Neuropathology. 33: 663-6. PMID 23551494 DOI: 10.1111/Neup.12036 |
0.356 |
|
| 2013 |
Fukusumi H, Shofuda T, Kanematsu D, Yamamoto A, Suemizu H, Nakamura M, Yamasaki M, Ohgushi M, Sasai Y, Kanemura Y. Feeder-free generation and long-term culture of human induced pluripotent stem cells using pericellular matrix of decidua derived mesenchymal cells. Plos One. 8: e55226. PMID 23383118 DOI: 10.1371/Journal.Pone.0055226 |
0.31 |
|
| 2013 |
Shofuda T, Fukusumi H, Kanematsu D, Yamamoto A, Yamasaki M, Arita N, Kanemura Y. A method for efficiently generating neurospheres from human-induced pluripotent stem cells using microsphere arrays. Neuroreport. 24: 84-90. PMID 23238165 DOI: 10.1097/Wnr.0B013E32835Cb677 |
0.309 |
|
| 2013 |
Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, ... ... Yamasaki M, et al. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Annals of Neurology. 73: 48-57. PMID 23225343 DOI: 10.1002/Ana.23736 |
0.342 |
|
| 2012 |
Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K. Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum. American Journal of Medical Genetics. Part A. 158: 812-5. PMID 22354677 DOI: 10.1002/Ajmg.A.35245 |
0.386 |
|
| 2011 |
Yamasaki M, Nonaka M, Suzumori N, Nakamura H, Fujita H, Namba A, Kamei Y, Yamada T, Pooh RK, Tanemura M, Sudo N, Nagasaka M, Yoshioka E, Shofuda T, Kanemura Y. Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus). Journal of Neurosurgery. Pediatrics. 8: 411-6. PMID 21961551 DOI: 10.3171/2011.7.Peds10531 |
0.32 |
|
| 2011 |
Kanematsu D, Shofuda T, Yamamoto A, Ban C, Ueda T, Yamasaki M, Kanemura Y. Isolation and cellular properties of mesenchymal cells derived from the decidua of human term placenta. Differentiation; Research in Biological Diversity. 82: 77-88. PMID 21684674 DOI: 10.1016/J.Diff.2011.05.010 |
0.306 |
|
| 2008 |
Nakakimura S, Sasaki F, Okada T, Arisue A, Cho K, Yoshino M, Kanemura Y, Yamasaki M, Todo S. Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. Journal of Pediatric Surgery. 43: E13-7. PMID 18485929 DOI: 10.1016/J.Jpedsurg.2007.12.069 |
0.339 |
|
| 2007 |
Moritake K, Nagai H, Miyazaki T, Nagasako N, Yamasaki M, Tamakoshi A. Nationwide survey of the etiology and associated conditions of prenatally and postnatally diagnosed congenital hydrocephalus in Japan. Neurologia Medico-Chirurgica. 47: 448-52; discussion 4. PMID 17965561 DOI: 10.2176/Nmc.47.448 |
0.301 |
|
| 2006 |
Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. Journal of Neurosurgery. 105: 403-12. PMID 17328266 DOI: 10.3171/Ped.2006.105.5.403 |
0.37 |
|
| 2005 |
Kanemura Y, Takuma Y, Kamiguchi H, Yamasaki M. First case of L1CAM gene mutation identified in MASA syndrome in Asia. Congenital Anomalies. 45: 67-9. PMID 15904436 DOI: 10.1111/J.1741-4520.2005.00067.X |
0.36 |
|
| 2004 |
Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y, Yamasaki M. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. Journal of Human Genetics. 49: 334-7. PMID 15148591 DOI: 10.1007/S10038-004-0153-4 |
0.366 |
|
| 2004 |
Yamasaki M, Kanemura Y, Okamoto N, Sakamoto H, Kamiguchi H. Neuroradiological criteria of human L1CAM syndrome – report of 24 human L1CAM mutations including 17 noble mutations and clinical evaluation Cerebrospinal Fluid Research. 1: 1-1. DOI: 10.1186/1743-8454-1-S1-S35 |
0.358 |
|
| 2003 |
Nakamura Y, Yamamoto M, Oda E, Yamamoto A, Kanemura Y, Hara M, Suzuki A, Yamasaki M, Okano H. Expression of tubulin beta II in neural stem/progenitor cells and radial fibers during human fetal brain development. Laboratory Investigation; a Journal of Technical Methods and Pathology. 83: 479-89. PMID 12695551 DOI: 10.1097/01.Lab.0000063930.75913.B3 |
0.304 |
|
| 1999 |
Kanemura Y, Hiraga S, Arita N, Ohnishi T, Izumoto S, Mori K, Matsumura H, Yamasaki M, Fushiki S, Yoshimine T. Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene Febs Letters. 442: 151-156. PMID 9928992 DOI: 10.1016/S0014-5793(98)01650-0 |
0.31 |
|
| 1998 |
Kamiguchi H, Hlavin ML, Yamasaki M, Lemmon V. Adhesion molecules and inherited diseases of the human nervous system. Annual Review of Neuroscience. 21: 97-125. PMID 9530493 DOI: 10.1146/Annurev.Neuro.21.1.97 |
0.565 |
|
| 1997 |
Yamasaki M, Thompson P, Lemmon V. CRASH syndrome: mutations in L1CAM correlate with severity of the disease. Neuropediatrics. 28: 175-8. PMID 9266556 DOI: 10.1055/S-2007-973696 |
0.573 |
|
| 1996 |
Izumoto S, Yamasaki M, Arita N, Hiraga S, Ohnishi T, Fujitani K, Sakoda S, Hayakawa T. A new mutation of the L1CAM gene in an X-linked hydrocephalus family Child's Nervous System. 12: 742-747. PMID 9118141 DOI: 10.1007/Bf00261591 |
0.346 |
|
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