ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms

Yoshihiro Onouchi, Tomohiko Gunji, Jane C. Burns, +27

Nature Genetics

Cardiovascular DiseaseKawasaki Disease SusceptibilityGenetic EpidemiologyCoronary Artery AneurysmsPathology +7

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, +28

Nature Genetics

Mendelian DisorderTranslational BiologyDisease MechanismGenetic DisorderGenetics +4

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Takeo Kubota, Shigeaki Nonoyama, Hidefumi Tonoki, +6

Human Genetics

ChromatinChromatin StructureMedicineGeneticsDna Methylation +10

Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

Paweł Stankiewicz, Christine J. Shaw, Jason Dapper, +6

The American Journal of Human Genetics

ChromatinNatural SciencesGeneticsGenome StructureDna Replication +4

Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1

Hiroaki Tomita, Shinichiro Nagamitsu, Keiko Wakui, +21

The American Journal of Human Genetics

ChromatinChromosome DynamicsCytogeneticsGenetic DisorderGenetics +4

Common variants in CASP3 confer susceptibility to Kawasaki disease

Yoshihiro Onouchi, Kouichi Ozaki, Jane C. Buns, +36

Human Molecular Genetics

ImmunodeficienciesGeneticsGenetic EpidemiologyImmunologyPathology +14

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, +22

Human Mutation

Collagen FibrilsNew TypeGeneticsGlycobiologyPathology +15

Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases*

Koji Muroya, Torayuki Okuyama, Keiji Goishi, +10

The Journal of Clinical Endocrinology & Metabolism

Three novel <i>DNMT3B</i> mutations in Japanese patients with ICF syndrome

Hisao Shirohzu, Takeo Kubota, Azumi Kumazawa, +9

American Journal of Medical Genetics

GeneticsImmunologyPathologyMolecular GeneticsDisease Gene Identification +15

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki–Shaffer syndrome

Keiko Wakui, Guiliana Gregato, Blake C. Ballif, +10

European Journal of Human Genetics

PathologyPotocki–shaffer SyndromeNatural PanelNeurologyCritical Region +1