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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Nature communications, 2015-07, Vol.6 (1), p.7870-7870, Article 7870

2015

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Effect of Genetic Polymorphism of OATP-C (SLCO1B1) on Lipid-Lowering Response to HMG-CoA Reductase Inhibitors

DRUG METABOLISM AND PHARMACOKINETICS, 2004, Vol.19 (5), p.375-380

2004

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Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

Journal of human genetics, 2010-12, Vol.55 (12), p.801-809

2010

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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Nature genetics, 1999-06, Vol.22 (2), p.159-163

1999

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Home Blood Pressure Is a Better Predictor of Carotid Atherosclerosis than Office Blood Pressure in Community-Dwelling Subjects

Hypertension Research, 2004, Vol.27(9), pp.633-639

2004

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Polymorphism of the Monocyte Chemoattractant Protein (MCP-1) Gene Is Associated with the Plasma Level of MCP-1 But Not with Carotid Intima-Media Thickness

Hypertension Research, 2003, Vol.26(9), pp.677-683

2003

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Genetic polymorphism of paraoxonase 1 (PON1) and susceptibility to Parkinson's disease

Brain research, 1998-09, Vol.806 (2), p.271-273

1998

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Orthostatic Systolic Hypotension and the Reflection Pressure Wave

Hypertension research, 2005-06, Vol.28 (6), p.537-543

2005

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Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis"

Journal of human genetics, 2008-04, Vol.53 (4), p.287-295

2008

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Hypotension Associated with Prone Body Position: A Possible Overlooked Postural Hypotension

Hypertension research, 2005-09, Vol.28 (9), p.741-746

2005

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Identification of hippocampus-related candidate genes for Alzheimer's disease

Annals of neurology, 2005-04, Vol.57 (4), p.585-588

2005

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Classic Rett syndrome in a boy with R133C mutation of MECP2

Brain & development (Tokyo. 1979), 2005-09, Vol.27 (6), p.439-442

2005

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Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome

Brain & development (Tokyo. 1979), 2007-09, Vol.29 (8), p.491-495

2007

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Methyl-CpG binding protein 2 gene ( MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms

Brain & development (Tokyo. 1979), 2005-04, Vol.27 (3), p.211-217

2005

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Promoter polymorphism in fibroblast growth factor 1 gene increases risk of definite Alzheimer’s disease

Biochemical and biophysical research communications, 2004-08, Vol.321 (2), p.320-323

2004

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Mutation analysis of the methyl-CpG-binding protein 2 gene ( MECP2) in Rett patients with preserved speech

Brain & development (Tokyo. 1979), 2001-12, Vol.23, p.S157-S160

2001

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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

Nature genetics, 2002-11, Vol.32 (3), p.359-369

2002

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DELAYED REFLECTION PRESSURE WAVE: NEW ASPECTS FOR POSTPRANDIAL HYPOTENSION

Journal of the American Geriatrics Society (JAGS), 2005-10, Vol.53 (10), p.1833-1834

2005

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Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

American journal of human genetics, 2008-07, Vol.83 (1), p.106-111

2008

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Commentary to the paper entitled ‘Non-radioactive DNA diagnosis for the fragile X syndrome in Japanese mentally retarded males’ by Nanba et al

Brain & development (Tokyo. 1979), 1995, Vol.17 (5), p.323-323

Kondo, Ikuko

1995

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The -4,752 C/T polymorphism in the presenilin 1 gene increases the risk of Alzheimer's disease in apolipoprotein E4 carriers

Internal medicine (Tokyo, 1992), 2002-10, Vol.41 (10), p.823-828

2002

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Neuroradiological studies in Rett syndrome

No to hattatsu, 2008-07, Vol.40 (4), p.313

2008

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Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

Journal of human genetics, 1998-01, Vol.43 (3), p.178-181

1998

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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Effect of Genetic Polymorphism of OATP-C (SLCO1B1) on Lipid-Lowering Response to HMG-CoA Reductase Inhibitors

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Correction: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Home Blood Pressure Is a Better Predictor of Carotid Atherosclerosis than Office Blood Pressure in Community-Dwelling Subjects

Polymorphism of the Monocyte Chemoattractant Protein (MCP-1) Gene Is Associated with the Plasma Level of MCP-1 But Not with Carotid Intima-Media Thickness

Genetic polymorphism of paraoxonase 1 (PON1) and susceptibility to Parkinson's disease

Orthostatic Systolic Hypotension and the Reflection Pressure Wave

Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis"

Hypotension Associated with Prone Body Position: A Possible Overlooked Postural Hypotension

Identification of hippocampus-related candidate genes for Alzheimer's disease

Classic Rett syndrome in a boy with R133C mutation of MECP2

Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome

Methyl-CpG binding protein 2 gene ( MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms

Promoter polymorphism in fibroblast growth factor 1 gene increases risk of definite Alzheimer’s disease

Mutation analysis of the methyl-CpG-binding protein 2 gene ( MECP2) in Rett patients with preserved speech

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

DELAYED REFLECTION PRESSURE WAVE: NEW ASPECTS FOR POSTPRANDIAL HYPOTENSION

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Commentary to the paper entitled ‘Non-radioactive DNA diagnosis for the fragile X syndrome in Japanese mentally retarded males’ by Nanba et al

The -4,752 C/T polymorphism in the presenilin 1 gene increases the risk of Alzheimer's disease in apolipoprotein E4 carriers

Neuroradiological studies in Rett syndrome

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

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