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Division Of Clinical And Molecular Genetics Shinshu University Hospital | 論文
- The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
- Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
- JunD-Menin Interaction Regulates c-Jun-mediated AP-1 Transactivation
- X-linked Dilated Cardiomyopathy with a Large Hot-spot Deletion in the Dystrophin Gene
- Current Status of Clinical Care for Familial Endocrine Tumor Syndromes in Japan
- Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan
- Regional features of autosomal-dominant cerebellar ataxia in Nagano : clinical and molecular genetic analysis of 86 families
- 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
- A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder : Altered L-serine level associated with disruption of PSAT1 gene expression
- Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
- Comprehensive genetics clinic for familial tumors : proposal for a suitable system in Japan
- Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
- A novel splice site mutation of the MEN1 gene identified in a patient with primary hyperparathyroidism
- X-linked Dilated Cardiomyopathy with a Large Hot-spot Deletion in the Dystrophin Gene
- Delay in the diagnosis of multiple endocrine neoplasia type 1 : typical symptoms are frequently overlooked
- Mediastinal Seminoma in a Patient with Multiple Endocrine Neoplasia Type 1
- Facial Angiofibroma as an Initial Manifestation in Multiple Endocrine Neoplasia Type 1
- Application of an intracellular stability test of a novel missense menin mutant to the diagnosis of multiple endocrine neoplasia type 1