I. Kondo

发表

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

S. Scherer, L. Tsui, M. Crackower, 1999, Nature Genetics.

Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2007, American journal of medical genetics. Part A.

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

R. Hennekam, S. Hopman, H. Ohashi, 2010, Journal of Human Genetics.

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

T. Saheki, Keiko Kobayashi, M. Iijima, 2000, Human Genetics.

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

Masatoshi Takeda, Ryuji Hata, Kenji Kosaka, 2005, Annals of neurology.

Weaver syndrome in two Japanese children.

I. Kondo, Y. Mori, K. Kuwajima, 1991, American journal of medical genetics.

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

T. Amino, H. Mizusawa, I. Kondo, 2008, Journal of Human Genetics.

COH1 analysis and linkage study in two Japanese families with Cohen syndrome

N. Shimizu, S. Asakawa, Y. Tabara, 2005, Clinical genetics.

The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

S. Nagataki, I. Kondo, N. Miyagi, 1990, American journal of medical genetics.

A 40-nucleotide repeat polymorphism in the human dopamine transporter gene

I. Kondo, K. Kondoh, A. Sano, 1993, Human Genetics.

Genetic Association between Alzheimer Disease and the Alpha-Synuclein Gene

K. Kohara, T. Miki, I. Kondo, 2001, Dementia and Geriatric Cognitive Disorders.

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

Katsuhiko Kohara, Yasuharu Tabara, Miyuki Yamamoto, 2005, Hypertension Research.

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

I. Kondo, Mitsutoshi Yamamoto, 1998, Brain Research.

Evidence for the close linkage between lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase D.

I. Kondo, H. Hamaguchi, 1985, American journal of human genetics.

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24

K. Flanigan, L. Ptáček, I. Kondo, 1999, Neurology.

Debrisoquine hydroxylase and Parkinson's disease.

I. Kanazawa, I. Kondo, 1993, Advances in neurology.

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.

K. Kohara, Y. Tabara, J. Nakura, 2003, Hypertension research : official journal of the Japanese Society of Hypertension.

Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease

H. Scheffer, I. Kondo, I. Kema, 1987, Human Genetics.

A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.

S. Minoshima, Takashi Sasaki, N. Shimizu, 2003, Biochemical and biophysical research communications.

A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome

M. Meguro, K. Mitsuya, A. Kashiwagi, 2001, Nature Genetics.

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

T. Mizutani, J. Kumagai, T. Amino, 2005 .

Frequency of the fragile X syndrome in Japanese mentally retarded males

T. Arinami, I. Kondo, S. Nakajima, 1986, Human Genetics.

Apolipoprotein E phenotypes and serum lipid levels in apparently healthy male adults in Tokyo

K. Yamakawa, I. Kondo, H. Hamaguchi, 1986, Japanese Journal of Human Genetics.

Frequencies of apolipoproteins E5 and E7 in apparently healthy Japanese

K. Yamakawa, I. Kondo, H. Hamaguchi, 1985, The Japanese Journal of Human Genetics.

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

T. Miki, S. Yokoyama, I. Kondo, 2004, Biochemical and biophysical research communications.

Genetic association between cytochrome P450IA1 gene and susceptibility to Parkinson's disease

I. Kondo, Y. Mizuno, F. Takakubo, 2005, Journal of Neural Transmission.

DELAYED REFLECTION PRESSURE WAVE: NEW ASPECTS FOR POSTPRANDIAL HYPOTENSION

K. Kohara, Y. Tabara, T. Miki, 2005, Journal of the American Geriatrics Society.

Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.

A. Kuwano, I. Kondo, M. Uchino, 1996, Journal of medical genetics.

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

M. Oshimura, E. Nanba, I. Kondo, 2007, Brain and Development.

Huntington ' s disease . gene in Japanese families affected with Analysis of triplet repeats in the huntingtin

Masahiko Watanabe, I. Kanazawa, I. Kondo, 2022 .

A cytogenetic survey of 449 patients in a Japanese institution for the mentally retarded

I. Kondo, H. Hamaguchi, Susumu Nakajima, 1980, Clinical genetics.

Association of Xba I allele (Xba I 44kb) of the human cytochrome P-450dbI (CYP2D6) gene in Japanese patients with idiopathic Parkinson’s disease

I. Kanazawa, I. Kondo, 1991 .

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

T. Matsuishi, Y. Tabara, T. Miki, 2005, Brain and Development.

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

T. Matsuishi, I. Kondo, Y. Yamashita, 2001, Brain and Development.

Genetics of receptors for bioactive polypeptides: Expression of the human EGF receptor gene and internalization and processing of the receptor-bound EGF in human-mouse cell hybrids

I. Kondo, Y. Shimizu, N. Shimizu, 1982, Somatic cell genetics.

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

T. Matsuishi, I. Kondo, Y. Yamashita, 2000, Journal of medical genetics.

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

T. Saheki, M. Nakagawa, Keiko Kobayashi, 2002, Human mutation.

Effect of genetic polymorphism of OATP-C (SLCO1B1) on lipid-lowering response to HMG-CoA reductase inhibitors.

H. Kusuhara, Y. Sugiyama, K. Kohara, 2004, Drug metabolism and pharmacokinetics.

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

J. Lupski, P. Patel, W. Dobyns, 1991, American journal of human genetics.

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

W. Dobyns, M. Kusaka, I. Kondo, 2002, Nature Genetics.

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

J. Nakura, T. Miki, I. Kondo, 2002, Internal medicine.

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

I. Kondo, K. Mizugishi, K. Kuwajima, 1998, Journal of Human Genetics.

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.

T. Mizutani, J. Kumagai, T. Amino, 2005, American journal of human genetics.

The costello syndrome: Report of a case and review of the literature

I. Kondo, K. Ashimine, K. Tamanaha, 1993, Japanese Journal of Human Genetics.

Classic Rett syndrome in a boy with R133C mutation of MECP2

Y. Tabara, T. Miki, I. Kondo, 2005, Brain and Development.

The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2.

Y. Nakamura, S. Inoue, J. Inazawa, 1997, American journal of medical genetics.

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

P. Patel, A. Baldini, F. Zara, 1996, American journal of medical genetics.

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)

N. Niikawa, S. Matsuura, I. Kondo, 1991, American journal of medical genetics.

Laser microdissection and single unique primer PCR allow generation of regional chromosome DNA clones from a single human chromosome.

I. Kanazawa, S. Hadano, J. Ikeda, 1991, Genomics.

A case of trisomy 3q21→qter syndrome

I. Kondo, H. Hamaguchi, H. Nakai, 1979, Human Genetics.

Brachmann-de Lange syndrome and congenital heart disease.

M. Masuno, Y. Kuroki, I. Kondo, 1998, American journal of medical genetics.

Prominent increase in the amount of a cytosol protein in transformed fibroblasts and ascites hepatoma cells.

I. Kondo, K. Kato, H. Hamaguchi, 1980, Biochimica et Biophysica Acta.

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 3. Frequent occurrence of genetic variants in some abundant polypeptides of PHA-stimulated peripheral blood lymphocytes

I. Kondo, H. Hamaguchi, M. Yamada, 2004, Human Genetics.

Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families

N. Seki, I. Kondo, T. Hori, 1993, Clinical genetics.

Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease.

I. Kanazawa, I. Kondo, J. Goto, 1995, Journal of medical genetics.

Characteristic evoked potentials in childhood-onset dentatorubral-pallidoluysian atrophy

I. Kondo, T. Hashimoto, M. Tayama, 1996, Brain and Development.

Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families

I. Kanazawa, J. Gusella, J. Ikeda, 1990, Human Genetics.

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

A. Sano, K. Umino, I. Kanazawa, 1994, Nature Genetics.

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.

I. Kondo, A. Yomo, T. Taira, 1991, American journal of medical genetics.

A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13

H. Satoh, I. Kondo, H. Hamaguchi, 2004, Human Genetics.

Genetic analysis of hyperproduction of epidermal growth factor receptors in human epidermoid carcinoma A431 cells

I. Kondo, Y. Shimizu, S. Gamou, 1984, Somatic cell and molecular genetics.

Multifocal meningiomas in a patient with a constitutional ring chromosome 22.

T. Arinami, I. Kondo, H. Hamaguchi, 1986, Journal of medical genetics.

Reactive arthritis after pharyngeal infection: report of two siblings

H. Hashimoto, I. Kondo, S. Kobayashi, 2002, Modern rheumatology.

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families

Masahiko Watanabe, I. Kanazawa, J. Gusella, 1993, Japanese Journal of Human Genetics.

A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.

I. Kanazawa, T. Miyashita, Koichiro Nakamura, 1996, Human molecular genetics.

Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family

A. Kuwano, I. Kondo, M. Uchino, 1995, Journal of the Neurological Sciences.

Exclusion mapping of the Cohen syndrome gene from the Prader‐Willi syndrome locus

N. Niikawa, I. Kondo, Kohtaro Yamamoto, 1990, Clinical genetics.

Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.

I. Kanazawa, J. Gusella, J. Ikeda, 1990, Journal of medical genetics.

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis

K. Yamakawa, I. Kondo, T. Yamamoto, 2004, Human Genetics.

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis:

K. Yamakawa, I. Kondo, T. Yamamoto, 2004, Human Genetics.

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis:

K. Yamakawa, I. Kondo, T. Yamamoto, 2004, Human Genetics.

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 4. Genetic polymorphism of cytosol 100k polypeptide

I. Kondo, H. Hamaguchi, M. Yamada, 2004, Human Genetics.

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis

K. Yamakawa, I. Kondo, T. Yamamoto, 1986, Human Genetics.

The esterase D polymorphism: Analysis of esterase D 7 by two-dimensional gel electrophoresis

K. Yamakawa, I. Kondo, H. Hamaguchi, 1984, Japanese Journal of Human Genetics.

VI. Identification of esterase D in the two-dimensional gel electrophoresis pattern of cellular proteins

K. Yamakawa, I. Kondo, T. Yamamoto, 1984 .

A Japanese male infant with the Weaver syndrome

I. Kondo, Y. Mori, K. Kuwajima, 1990, Japanese Journal of Human Genetics.

Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping

Y. Fukushima, A. Kuwano, H. Ohashi, 2004, Human Genetics.

Trisomy 12p syndrome

I. Kondo, H. Hamaguchi, T. Haneda, 1979, Human Genetics.

Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy

Y. Kaneko, I. Kondo, T. Ikeuchi, 1976, Human Genetics.

De novo Occurrence of Mosaic Trisomy 12p in a Mentally Retarded Boy

I. Kondo, H. Hamaguchi, T. Haneda, 1979 .

Increased incidence of dementia with Lewy bodies in patients carrying the ɛ4‐allele of apolipoprotein E

M. Takeda, T. Miki, I. Kondo, 2004 .

Evidence for a new variant CYP2D6 allele CYP2D6J in a Japanese population associated with lower in vivo rates of sparteine metabolism.

I. Kanazawa, F. Gonzalez, I. Kondo, 1993, Pharmacogenetics.

Haplotype analysis at the FRAXA locus in the Japanese population.

R. Richards, K. Holman, G. Sutherland, 1994, American journal of medical genetics.

Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis

I. Kondo, M. Kaneko, T. Hirano, 1984, Clinical genetics.

Anticipation in hereditary dentatorubral-pallidoluysian atrophy

I. Kondo, F. Hazama, A. Sano, 1994, Human Genetics.

A Family with X-Linked Cone Dystrophy Showing a Tapetal-Like Reflex

I. Kondo, K. Fujiki, A. Kanai, 1997 .

Familial occurrence of ring chromosome 15

I. Kondo, K. Kuwajima, T. Suzuki, 1992, Clinical genetics.

Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan

T. Arinami, I. Kondo, H. Hamaguchi, 1987, Human Genetics.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Christian R Marshall, Alexandre Reymond, Paige Kaplan, 2008, American journal of human genetics.

A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.

I. Kondo, H. Hamaguchi, H. Takita, 1979, Journal of medical genetics.

Mutagenicity of cyclosporine. Induction of sister chromatid exchange in human cells.

I. Kondo, K. Fukao, K. Yuzawa, 1986, Transplantation.

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

T. Matsuishi, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

Proton magnetic resonance spectroscopy on childhood-onset dentatorubral-pallidoluysian atrophy (DRPLA)

I. Kondo, T. Hashimoto, M. Tayama, 1996, Brain and Development.

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.

D. J. Driscoll, S. Schwartz, N. Niikawa, 1997, American journal of medical genetics.

A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III

T. Arinami, H. Mizusawa, I. Kondo, 2005, Neurology.

Genetic association between susceptibility to Parkinson's disease and α 1-antichymotrypsin polymorphism

I. Kondo, Y. Mizuno, Mitsutoshi Yamamoto, 1997, Brain Research.

Mitochondrial myopathy: tissue-specific expression of a defect in ubiquinol-cytochrome c reductase.

M. Watanabe, I. Kondo, V. Darley-Usmar, 1986, Clinica chimica acta; international journal of clinical chemistry.

Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs

Y. Fukushima, N. Niikawa, I. Kondo, 1991, Human Genetics.

Orthostatic Systolic Hypotension and the Reflection Pressure Wave

K. Kohara, Y. Tabara, J. Nakura, 2005, Hypertension Research.

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy

I. Kanazawa, M. Yamada, I. Kondo, 1995, Neurology.

Auditory brain-stem responses in the fragile X syndrome.

T. Arinami, I. Kondo, S. Nakajima, 1988, American journal of human genetics.

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1- 2 polymorphism and contribution to founder effect

M. Shoji, K. Okamoto, Mitsunori Watanabe, 1999, Journal of medical genetics.

A novel alternative splice variant of nicastrin and its implication in Alzheimer disease.

M. Takeda, T. Miki, I. Kondo, 2006, Life sciences.

A Japanese patient with the Dubowitz syndrome

K. Takeda, I. Kondo, K. Kuwajima, 1987, Clinical genetics.

TAFI polymorphisms at amino acids 147 and 325 are not risk factors for cerebral infarction

M. Takeda, T. Miki, I. Kondo, 2004, British journal of haematology.

Familial retinoblastoma (mother and son) with 13q14 deletion

Y. Fukushima, Y. Kuroki, I. Kondo, 1987, Human Genetics.

MR of childhood-onset dentatorubral-pallidoluysian atrophy.

T. Hashimoto, I. Kondo, T. Kato, 1995, AJNR. American journal of neuroradiology.

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate‐deficient glycoprotein syndrome type 1

K. Shigemoto, Y. Kuroda, I. Kondo, 1999, Clinical genetics.

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

K. Shigemoto, I. Kondo, I. Yuasa, 1999, Brain and Development.

Establishment of a new prostatic carcinoma cell line (TSU-Pr1).

I. Kondo, K. Koiso, I. Kondo, 1987, The Journal of urology.

Home blood pressure is a better predictor of carotid atherosclerosis than office blood pressure in community-dwelling subjects.

K. Kohara, Y. Tabara, T. Miki, 2004, Hypertension research : official journal of the Japanese Society of Hypertension.

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

T. Matsuishi, I. Kondo, Y. Yamashita, 2000, Journal of medical genetics.

Lymphocyte-specific protein tyrosine kinase is a novel risk gene for Alzheimer disease

M. Takeda, T. Miki, I. Kondo, 2005, Journal of the Neurological Sciences.

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1- 2 polymorphism and contribution to founder effect

M. Shoji, K. Okamoto, I. Kondo, 1999, Journal of medical genetics.

Dynamic mutation loci: allele distributions in different populations

K. Friend, S. Easteal, R. Richards, 1996, Annals of human genetics.

Chromosome Banding Patterns in 27 Cases of Acute Myeloblastic Leukemia

I. Kondo, M. Okada, M. Sasaki, 1976 .