Ras/MAPK syndromes and childhood hemato-oncological diseases : PIH: Recent advances in genetic basis of childhood hemato-oncological diseasesAOKI, Yoko; MATSUBARA, Yoichi.International journal of hematology. 2013, Vol 97, Num 1, pp 30-36, issn 0925-5710, 7 p.Article

Molecular evolution of the haemagglutinin-neuraminidase gene in human parainfluenza virus type 3 isolates from children with acute respiratory illness in Yamagata prefecture, JapanMIZUTA, Katsumi; TSUKAGOSHI, Hiroyuki; IKEDA, Tatsuya et al.Journal of medical microbiology. 2014, Vol 63, Num 4, pp 570-577, issn 0022-2615, 8 p.Article

Clinical Impact of Human Metapneumovirus Genotypes and Genotype-Specific Seroprevalence in Yamagata, JapanMATSUZAKI, Yoko; ITAGAKI, Tsutomu; ABIKO, Chieko et al.Journal of medical virology. 2008, Vol 80, Num 6, pp 1084-1089, issn 0146-6615, 6 p.Article

Rapid diagnosis of glycine encephalopathy by ¹³C-glycine breath testKURE, Shigeo; KORMAN, Stanley H; AOKI, Yoko et al.Annals of neurology. 2006, Vol 59, Num 5, pp 862-867, issn 0364-5134, 6 p.Article

Saffold Cardiovirus Infection in Children Associated With Respiratory Disease and Its Similarity to Coxsackievirus InfectionITAGAKI, Tsutomu; ABIKO, Chieko; AOKI, Yoko et al.The Pediatric infectious disease journal. 2011, Vol 30, Num 8, pp 680-683, issn 0891-3668, 4 p.Article

Serum nutritional status of tocopherol and retinol normalized to lipids of persons living in the southern rural Terai region in NepalHIRAI, Kazuko; OHNO, Yoshimi; SHRESTHA, Mathura P et al.Environmental health and preventive medicine. 2004, Vol 9, Num 1, pp 13-21, issn 1342-078X, 9 p.Article

Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case reportKONDOH, Tatsuro; ISHII, Eiich; AOKI, Yoko et al.European journal of pediatrics. 2003, Vol 162, Num 7-8, pp 548-549, issn 0340-6199, 2 p.Article

Prevalence and Clinical Features of Costello Syndrome and Cardio-Facio-Cutaneous Syndrome in Japan: Findings From a Nationwide Epidemiological SurveyABE, Yu; AOKI, Yoko; NIIHORI, Tetsuya et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1083-1094, issn 1552-4825, 12 p.Article

Implications of Prenatal Diagnosis of the Fetus With Both Interstitial Deletion and a Small Marker Ring Originating From Chromosome 5OHASHI, Hiroyasu; SUZUMORI, Kaoru; CHISAKA, Yasushi et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 1, pp 192-196, issn 1552-4825, 5 p.Article

Association of the GABRB3 Gene With Nonsyndromic Oral CleftsINOUE, Hiroki; KAYANO, Shuji; AOKI, Yoko et al.The Cleft palate-craniofacial journal. 2008, Vol 45, Num 3, pp 261-266, issn 1055-6656, 6 p.Article

HRAS mutation analysis in costello syndrome : Genotype and phenotype correlationGRIPP, Karen W; LIN, Angela E; GONZALEZ-MENESES, Antonio et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 1, pp 1-7, issn 1552-4825, 7 p.Article

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander diseaseAOKI, Yoko; HAGINOYA, Kazuhiro; BRENNER, Michael et al.Neuroscience letters. 2001, Vol 312, Num 2, pp 71-74, issn 0304-3940Article

Clinical, Pathological, and Molecular Analyses of Cardiovascular Abnormalities in Costello Syndrome: A Ras/MAPK Pathway SyndromeLIN, Angela E; ALEXANDER, Mark E; CHRISTINA DIGILIO, Maria et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 3, pp 486-507, issn 1552-4825, 22 p.Article

Implantable Cardioverter Defibrillator for Progressive Hypertrophic Cardiomyopathy in a Patient With LEOPARD Syndrome and a Novel PTPN11 Mutation Gln510HisWAKABAYASHI, Yasushi; YAMAZAKI, Kyohei; NARUMI, Yoko et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 10, pp 2529-2533, issn 1552-4825, 5 p.Article

Sequence and phylogenetic analyses of Saffold cardiovirus from children with exudative tonsillitis in Yamagata, JapanITAGAKI, Tsutomu; ABIKO, Chieko; MIZUTANI, Tetsuya et al.Scandinavian journal of infectious diseases. 2010, Vol 42, Num 11-12, pp 950-952, issn 0036-5548, 3 p.Article

Model Mice for Mild-Form Glycine Encephalopathy : Behavioral and Biochemical Characterizations and Efficacy of Antagonists for the Glycine Binding Site of N-Methyl D-Aspartate ReceptorKOJIMA-ISHII, Kanako; KURE, Shigeo; ODA, Masaya et al.Pediatric research. 2008, Vol 64, Num 3, pp 228-233, issn 0031-3998, 6 p.Article

Cardio -facio -cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway : Genotype-phenotype relationships and overlap with Costello syndromeNAVA, Caroline; HANNA, Nadine; PASMANT, Eric et al.Journal of medical genetics. 2007, Vol 44, Num 12, pp 763-771, issn 0022-2593, 9 p.Article

Germline KRAS and BRAF mutations in cardio-facio- cutaneous syndromeNIIHORI, Tetsuya; AOKI, Yoko; INES KAVAMURA, Maria et al.Nature genetics. 2006, Vol 38, Num 3, pp 294-296, issn 1061-4036, 3 p.Article

Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese populationKANNO, Kiyoshi; SUZUKI, Yoichi; YAMADA, Atsushi et al.American journal of medical genetics. 2004, Vol 127A, Num 1, pp 11-16, issn 0148-7299, 6 p.Conference Paper

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemiaKURE, Shigeo; KOJIMA, Kanako; IZUMI, Tatsuro et al.Annals of neurology. 2002, Vol 52, Num 5, pp 643-646, issn 0364-5134, 4 p.Article

Structure and expression of the glycine cleavage system in rat central nervous systemSAKATA, Yoshiyuki; OWADA, Yuji; MATSUBARA, Yoichi et al.Molecular brain research. 2001, Vol 94, Num 1-2, pp 119-130, issn 0169-328XArticle