Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
スポンサーリンク
概要
- 論文の詳細を見る
- 2011-11-01
著者
-
Inazu Tetsuya
Department Of Biochemistry Fukui Medical University Matsuoka
-
Okamoto N
Osaka Medical Center And Res. Inst. Maternal And Child Health Osaka Jpn
-
Okamoto Nobuhiko
Department Of Planning And Research Osaka Medical Center And Research Institute For Maternal And Chi
-
Yamamoto Toshiyuki
Tokyo Women's Medical University Institute For Integrated Medical Sciences
-
Okamoto Nobuhiko
Department Of Molecular Cytogenetics Medical Research Institute And School Of Biomedical Science Tokyo Medical And Dental University
-
Shimojima Keiko
Tokyo Women's Medical University Institute For Integrated Medical Sciences
-
INAZU Tetsuya
Departhents of Biochemistry and Surgery, Fukui Medical School
-
OKAMOTO Nobuhiko
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health
関連論文
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
- Morphological differences in cardiovascular anomalies induced by bis-diamine between Sprague-Dawley and Wistar rats
- Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
- Chromosome 1q deletion and congenital glaucoma
- Teratogenic effect of bis-diamine on embryonic rat heart
- A NOVEL MUTATION IN L1CAM GENE IN A JAPANESE PATIENT WITH X-LINKED HYDROCEPHALUS
- L1CAM mutation in a Japanese family with x-linked hydrocephalus: a study for genetic counseling
- Genomic Organization and Promoter Analysis of a Mouse homeobox Gene, Hex
- Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
- Possible Involvement of Protein-Tyrosine Kinases Such as p72^ in the Disc-Sphere Change Response of Porcine Platelets
- A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
- Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
- MEVALONIC ACIDEMIA : FIRST CASE OF JAPAN
- A PATIENT WITH SCHINZEL-GIEDION SYNDROME AND A REVIEW OF 20 PATIENTS
- Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
- Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
- Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
- Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication
- Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
- Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination
- Diaphragmatic hernia following coronary artery bypass surgery with the right gastroepiploic artery : case report and literature review
- Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia
- Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia