Mami Yamasaki, M.D., Ph.D. - Publications

Affiliations: 
Univ. of Osaka 

39 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

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  0.381
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  0.391
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  0.357
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  0.366
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  0.37
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  0.387
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  0.566
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  0.574
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  0.347
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