Pitfalls of chromosome analysis
スポンサーリンク
概要
著者
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Fukushima Yoshimitsu
Department Of Hygiene And Medical Genetics Shinshu University School Of Medicine
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Fukushima Yoshimitsu
Department Of Human Genetics Shinshu University School Of Medicine
関連論文
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- A genomewide linkage analysis of Kawasaki disease : evidence for linkage to chromosome 12
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- A novel splicing mutation of the ATRX gene in ATR-X syndrome
- The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
- Serial assessment of left ventricular performance at rest and during bicycle exercise by ECG-gated myocardial perfusion SPECT
- Unusual Clinical and Pathological Presentation of a Neuroendocrine Tumor in a Patient with Multiple Endocrine Neoplasia Type 1
- Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
- Assessment of contractile response to dobutamine stress by means of ECG-gated myocardial SPECT : Comparison with myocardial perfusion and fatty acid metabolism
- Assessment of left ventricular function using solid-state gamma camera equipped with a highly-sensitive collimator
- Assessment of myocardial washout of Tc-99m-sestamibi in patients with chronic heart failure : Comparison with normal control
- Long-term Follow-up of Patients with Multiple Endocrine Neoplasia Type 1
- Validation of fast-RAMLA in clinical PET
- Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1
- Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
- Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB
- Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis : Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies
- Sequelae of Sarin Toxicity at One and Three Years After Exposure in Matsumoto, Japan
- Progressive Scoliosis in Cri-Du-Chat Syndrome Over a 20-Year Follow-Up Period : A Case Report
- Discordance Between the Morphological and Physiological Information of 64-Slice MSCT Coronary Angiography and Myocardial Perfusion Imaging in Patients With Intermediate to High Probability of Coronary Artery Disease
- Pitfalls of chromosome analysis
- Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Cerebral hemorrhage in Fabry's disease