Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (760) 760
Patent (95) 95
Book Review (28) 28
Publication (26) 26
Conference Proceeding (20) 20
Book Chapter (4) 4
Dissertation (2) 2
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (477) 477
humans (433) 433
genetics & heredity (289) 289
male (271) 271
female (270) 270
mutation (207) 207
child (113) 113
genetic aspects (113) 113
child, preschool (112) 112
phenotype (108) 108
clinical neurology (107) 107
infant (107) 107
adult (93) 93
pedigree (84) 84
gene (75) 75
magnetic resonance imaging (75) 75
dna mutational analysis (68) 68
abnormalities, multiple - genetics (65) 65
mutations (64) 64
adolescent (61) 61
genes (61) 61
epilepsy (60) 60
gene mutations (54) 54
intellectual disability - genetics (54) 54
in situ hybridization, fluorescence (53) 53
middle aged (53) 53
chemistry (52) 52
metallurgy (52) 52
animals (50) 50
mutation - genetics (50) 50
neurology (48) 48
seizures (47) 47
syndrome (47) 47
base sequence (46) 46
molecular sequence data (46) 46
analysis (44) 44
genetic disorders (44) 44
chromosome deletion (42) 42
encephalopathy (42) 42
proteins (42) 42
exome (41) 41
infant, newborn (40) 40
biochemistry (39) 39
electroencephalography (39) 39
neurosciences (38) 38
research (38) 38
genetics (37) 37
beer (36) 36
enzymology (36) 36
microbiology (36) 36
mutation or genetic engineering (36) 36
spirits (36) 36
vinegar (36) 36
wine (36) 36
compositions or test papers therefor (35) 35
condition-responsive control in microbiological orenzymological processes (35) 35
genotype (35) 35
japan (35) 35
measuring or testing processes involving enzymes, nucleicacids or microorganisms (35) 35
medical colleges (35) 35
processes of preparing such compositions (35) 35
heterozygote (34) 34
mutation, missense (34) 34
protein (34) 34
epilepsy - genetics (33) 33
mental-retardation (33) 33
mice (33) 33
amino acid sequence (32) 32
brain - pathology (32) 32
compositions thereof (32) 32
culture media (32) 32
microorganisms or enzymes (32) 32
propagating, preserving or maintaining microorganisms (32) 32
deletion (31) 31
expression (31) 31
human necessities (31) 31
organic chemistry (31) 31
alleles (29) 29
disease (29) 29
sequence analysis, dna (29) 29
spasms, infantile - genetics (29) 29
aged (28) 28
health aspects (28) 28
intellectual disability (28) 28
genetic research (27) 27
young adult (26) 26
chromosome mapping (25) 25
developmental disabilities - genetics (25) 25
homozygote (25) 25
karyotyping (25) 25
nuclear proteins - genetics (25) 25
children (24) 24
de-novo mutations (24) 24
diagnosis (24) 24
exons (24) 24
family (24) 24
genetic association studies (24) 24
age of onset (23) 23
gene expression (23) 23
genetic predisposition to disease (23) 23
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (850) 850
Japanese (30) 30
French (22) 22
German (15) 15
Chinese (5) 5
Indonesian (1) 1
Korean (1) 1
Norwegian (1) 1
Portuguese (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. A message for 2018 /692/308/2056 editorial
by Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 393 - 396
Journal Article
Details down arrow
2. A message for 2019
by Matsumoto, N
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 05/2019, Volume 64, Issue 5, pp. 355 - 357
GENETICS & HEREDITY
Journal Article
Details down arrow
3. The 2018 JHG Young Scientist Award
by Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 01/2019, Volume 64, Issue 1, pp. 1 - 1
GENETICS & HEREDITY | Awards and Prizes | Biomedical Research | Molecular Biology | Humans | Societies, Scientific
Journal Article
Details down arrow
4. A message for 2018
by Matsumoto, N
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 393 - 396
GENETICS & HEREDITY | Human Genetics | Publications | Humans | Periodicals as Topic
Journal Article
Details down arrow
5. The 2017 JHG Young Scientist Award
by Matsumoto, N
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 12/2017, Volume 62, Issue 12, pp. 1007 - 1007
GENETICS & HEREDITY
Journal Article
Details down arrow
6. The 2016 JHG Young Scientist Award
by Matsumoto, N
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 05/2017, Volume 62, Issue 5, pp. 521 - 521
GENETICS & HEREDITY
Journal Article
Details down arrow
7. A message for 2017
by Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 5, pp. 517 - 519
GENETICS & HEREDITY | Human Genetics | Publications | Humans | Periodicals as Topic
Journal Article
Details down arrow
8. A message for 2016
by Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 06/2016, Volume 61, Issue 6, pp. 467 - 469
GENETICS & HEREDITY
Journal Article
Details down arrow
9. Full Text Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
by Takata, Atsushi and Matsumoto, Naomichi and Kato, Tadafumi
Nature Communications, ISSN 2041-1723, 02/2017, Volume 8, Issue 1, pp. 14519 - 14519
Detailed analyses of transcriptome have revealed complexity in regulation of alternative splicing (AS). These AS events often undergo modulation by genetic... 
LOCALIZATION | PROTEIN | AUTISM | GENE | DNA | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | DISEASE | MITOCHONDRIAL DYSFUNCTION | MUTATIONS | EXPRESSION | Genetic Predisposition to Disease | Genome-Wide Association Study | RNA Splice Sites - genetics | Humans | RNA, Messenger - genetics | RNA, Messenger - metabolism | Regulatory Sequences, Nucleic Acid - genetics | Brain - metabolism | Protein Isoforms - metabolism | Schizophrenia - genetics | RNA Splicing - genetics | Brain - pathology | Polymorphism, Single Nucleotide - genetics | Genome, Human | Protein Isoforms - genetics | Quantitative Trait Loci - genetics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Human genetic variation database, a reference database of genetic variations in the Japanese population
by Higasa, Koichiro and Miyake, Noriko and Yoshimura, Jun and Okamura, Kohji and Niihori, Tetsuya and Saitsu, Hirotomo and Doi, Koichiro and Shimizu, Masakazu and Nakabayashi, Kazuhiko and Aoki, Yoko and Tsurusaki, Yoshinori and Morishita, Shinichi and Kawaguchi, Takahisa and Migita, Osuke and Nakayama, Keiko and Nakashima, Mitsuko and Mitsui, Jun and Narahara, Maiko and Hayashi, Keiko and Funayama, Ryo and Yamaguchi, Daisuke and Ishiura, Hiroyuki and Ko, Wen-Ya and Hata, Kenichiro and Nagashima, Takeshi and Yamada, Ryo and Matsubara, Yoichi and Umezawa, Akihiro and Tsuji, Shoji and Matsumoto, Naomichi and Matsuda, Fumihiko
Journal of Human Genetics, ISSN 1434-5161, 06/2016, Volume 61, Issue 6, pp. 547 - 553
Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with... 
INDIVIDUALS | HUMAN GENOME | POSITIVE SELECTION | VARIANTS | CODING VARIATION | SEQUENCE | GENETICS & HEREDITY | DIVERSITY | SEGREGATING SITES | ASSOCIATION | DISCOVERY | Genetics, Population | Gene Frequency | Humans | Japan | Selection, Genetic | Databases, Genetic | Genotype | Exome | Genetic Variation | Alleles | High-Throughput Nucleotide Sequencing | Genome, Human | Genomics - methods | Web Browser | Quality Control
Journal Article
Details down arrow
11. A message for 2015
by Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 03/2015, Volume 60, Issue 3, pp. 109 - 111
GENETICS & HEREDITY | Anniversaries and Special Events | Periodicals as Topic - trends | Genetics, Medical | Periodicals as Topic - standards | Humans | Journal Impact Factor
Journal Article
Details down arrow
12. Full Text Clinical exome sequencing in neurology practice
by Miyatake, Satoko and Matsumoto, Naomichi
Nature Reviews Neurology, ISSN 1759-4758, 12/2014, Volume 10, Issue 12, pp. 676 - 678
Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New... 
Neurology | Methods | Exome sequencing | Innovations
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
by Nakamura, Yuji and Kato, Kohji and Tsuchida, Naomi and Matsumoto, Naomichi and Takahashi, Yoshiyuki and Saitoh, Shinji
PLoS ONE, ISSN 1932-6203, 08/2019, Volume 14, Issue 8, pp. e0221482 - e0221482
There have been increasing number of reports of SZT2-related neurological diseases, the main symptoms of which are epilepsy, developmental delay, macrocephaly... 
Medicine, Experimental | Medical research | Nervous system diseases | Epstein-Barr virus | Research | Genetic variation | TOR protein | Pediatrics | Biotechnology | Phosphorylation | Disease | Funding | Intellectual disabilities | Epilepsy | Amino acid starvation | Amino acids | Viruses | Stimulation | Neurodevelopmental disorders | Kinases | Proteins | Convulsions & seizures | Localization | Genotypes | University graduates | Pathogens | Signs and symptoms | Phenotypes | Starvation | Lymphoblastoid cell lines | Rapamycin | Patients | Corpus callosum | Neurological diseases | Pathogenicity | Medicine | Signaling | Acids | Mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
14. Full Text De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
by Saitsu, Hirotomo and Nishimura, Taki and Muramatsu, Kazuhiro and Kodera, Hirofumi and Kumada, Satoko and Sugai, Kenji and Kasai-Yoshida, Emi and Sawaura, Noriko and Nishida, Hiroya and Hoshino, Ai and Ryujin, Fukiko and Yoshioka, Seiichiro and Nishiyama, Kiyomi and Kondo, Yukiko and Tsurusaki, Yoshinori and Nakashima, Mitsuko and Miyake, Noriko and Arakawa, Hirokazu and Kato, Mitsuhiro and Mizushima, Noboru and Matsumoto, Naomichi
Nature Genetics, ISSN 1061-4036, 04/2013, Volume 45, Issue 4, pp. 445 - 449
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established subtype of neurodegeneration with brain iron... 
PROTEIN FAMILY | ATG PROTEINS | BRAIN IRON ACCUMULATION | DISTINCT | DISEASE | GENETICS & HEREDITY | PROPPINS | MICE | MECHANISMS | MITOPHAGY | BINDING-SITES | Spasms, Infantile - etiology | Neurodegenerative Diseases - etiology | Humans | Mutation - genetics | Autophagy | Iron - metabolism | Carrier Proteins - genetics | Magnetic Resonance Imaging | Exome - genetics | Phenotype | Lennox Gastaut Syndrome | Adult | Female | High-Throughput Nucleotide Sequencing | Intellectual Disability - etiology | Child | Autophagy (Cytology) | Nervous system | Genetic aspects | Degeneration | Encephalopathy | Patient outcomes | Proteins | Brain research | Neurodegeneration | Science | Mutation | Grants | Mammals | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
15. Full Text Genetics: Clinical exome sequencing in neurology practice
by Miyatake, Satoko and Matsumoto, Naomichi
Nature Reviews Neurology, ISSN 1759-4758, 12/2014, Volume 10, Issue 12, pp. 676 - 678
Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New... 
INTELLECTUAL DISABILITY | DIAGNOSIS | CLINICAL NEUROLOGY | Molecular Diagnostic Techniques - ethics | Molecular Diagnostic Techniques - methods | Neurology - ethics | Sequence Analysis - methods | Humans | Genetic Testing - ethics | Molecular Diagnostic Techniques - economics | Nervous System Diseases - genetics | Genetic Testing - methods | Nervous System Diseases - diagnosis | Exome | Neurology - economics | Genetic Testing - economics | Neurology - methods | Sequence Analysis - economics | Sequence Analysis - ethics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
16. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome
by Miyatake, Satoko and Okamoto, Nobuhiko and Stark, Zornitza and Nabetani, Makoto and Tsurusaki, Yoshinori and Nakashima, Mitsuko and Miyake, Noriko and Mizuguchi, Takeshi and Ohtake, Akira and Saitsu, Hirotomo and Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 08/2017, Volume 62, Issue 8, pp. 741 - 746
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with... 
INTELLECTUAL DISABILITY | MICRODELETION | SWI/SNF COMPLEX | GENE | GENETICS & HEREDITY | DE-LANGE-SYNDROME | PHENOTYPES | MUTATIONS | Prognosis | Tooth Abnormalities - genetics | Face - abnormalities | Humans | Micrognathism - genetics | Child, Preschool | Repressor Proteins - genetics | Male | Bone Diseases, Developmental - genetics | Neck - abnormalities | Intellectual Disability - genetics | Genetic Variation | Phenotype | Hand Deformities, Congenital - genetics | Facies | Adult | Female | Child | Abnormalities, Multiple - genetics
Journal Article
Details down arrow
17. A novel SLC9A1 mutation causes cerebellar ataxia
by Iwama, Kazuhiro and Osaka, Hitoshi and Ikeda, Takahiro and Mitsuhashi, Satomi and Miyatake, Satoko and Takata, Atsushi and Miyake, Noriko and Ito, Shuichi and Mizuguchi, Takeshi and Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 10/2018, Volume 63, Issue 10, pp. 1049 - 1054
The mammalian Na+/H+ exchanger isoform one (NHE1), encoded by Solute Carrier Family 9, member 1 (SLC9A1), consists of 12 membrane domains and a cytosolic... 
NA+/H+ EXCHANGER NHE1 | DISEASES | GENETICS & HEREDITY | SLC9A1 | Humans | Child, Preschool | Sodium-Hydrogen Exchanger 1 - genetics | Male | Whole Exome Sequencing | Cerebellar Ataxia - physiopathology | Cerebellar Ataxia - genetics | Adolescent | Cerebellar Ataxia - diagnostic imaging | Adult | Female | Mutation | Child
Journal Article
Details down arrow
18. Full Text A message from the new Editor-in-Chief
by Matsumoto, Naomichi
Journal of Human Genetics, ISSN 1434-5161, 01/2014, Volume 59, Issue 1, pp. 1 - 1
GENETICS & HEREDITY
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
19. Full Text Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
by Tsurusaki, Yoshinori and Okamoto, Nobuhiko and Ohashi, Hirofumi and Kosho, Tomoki and Imai, Yoko and Hibi-Ko, Yumiko and Kaname, Tadashi and Naritomi, Kenji and Kawame, Hiroshi and Wakui, Keiko and Fukushima, Yoshimitsu and Homma, Tomomi and Kato, Mitsuhiro and Hiraki, Yoko and Yamagata, Takanori and Yano, Shoji and Mizuno, Seiji and Sakazume, Satoru and Ishii, Takuma and Nagai, Toshiro and Shiina, Masaaki and Ogata, Kazuhiro and Ohta, Tohru and Niikawa, Norio and Miyatake, Satoko and Okada, Ippei and Mizuguchi, Takeshi and Doi, Hiroshi and Saitsu, Hirotomo and Miyake, Noriko and Matsumoto, Naomichi
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly... 
SCHWANNOMATOSIS | SMARCB1 | GENE | CANCER | GENETICS & HEREDITY | Face - abnormalities | Humans | Micrognathism - genetics | Cells, Cultured | Male | DNA Copy Number Variations - genetics | Mutation, Missense | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Chromosomal Proteins, Non-Histone - genetics | Intellectual Disability - genetics | Exome | SMARCB1 Protein | Hand Deformities, Congenital - genetics | Female | Nuclear Proteins - genetics | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Physiological aspects | Chromatin | Genetic aspects | Research | Gene mutations | Coffin-Siris syndrome | Proteins | Science | Genetics | Mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
20. Full Text De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
by Uruno, Katsuhisa and Hayasaka, Kiyoshi and Fukuda, Atsuo and Nishiyama, Kiyomi and Osaka, Hitoshi and Mizuguchi, Takeshi and Ogata, Kazuhiro and Nishimura, Akira and Kumada, Satoko and Hamada, Keisuke and Yoshimura, Yukiko and Hirai, Syu-ichi and Saitsu, Hirotomo and Okada, Ippei and Kumada, Tatsuro and Matsumoto, Naomichi and Tohyama, Jun and Kato, Mitsuhiro
Nature Genetics, ISSN 1061-4036, 06/2008, Volume 40, Issue 6, pp. 782 - 788
Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of... 
POLYALANINE EXPANSION | IDIOPATHIC MENTAL-RETARDATION | COMPLEX | PROTEIN | WEST-SYNDROME | GENETICS & HEREDITY | EARLY MYOCLONIC ENCEPHALOPATHY | SYNAPTIC VESICLE DOCKING | SECRETION | SYNTAXIN | OHTAHARA-SYNDROME | Brain - diagnostic imaging | Humans | Molecular Sequence Data | Munc18 Proteins - metabolism | Infant | Male | Electroencephalography | Epilepsies, Myoclonic - pathology | Mutation, Missense - genetics | Chromosomes, Human, Pair 9 - genetics | Microarray Analysis | Munc18 Proteins - chemistry | Adult | Female | Tumor Cells, Cultured | Circular Dichroism | Infant, Newborn | Neuroblastoma - pathology | Epilepsies, Myoclonic - genetics | Chromosome Deletion | Amino Acid Sequence | Nucleic Acid Hybridization | Munc18 Proteins - genetics | Neuroblastoma - genetics | In Situ Hybridization, Fluorescence | Radiography | Sequence Homology, Amino Acid | Magnetic Resonance Imaging | Qa-SNARE Proteins - metabolism | Heterozygote | Protein Conformation | Neuroblastoma - metabolism | Genome, Human | Complications and side effects | Gene mutations | Encephalopathy | Physiological aspects | Genetic aspects | Diagnosis | Research | Gene expression | Risk factors | Proteins | Babies | Encephalitis | Epilepsy | Amino acids | Crystal structure | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.