スポンサーリンク
Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences | 論文
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
- Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection
- PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese : population-based and family-based candidate gene analyses
- The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
- A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
- Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.
- Mirror duplication of chromosome 21 with complete phenotype of Down syndrome.
- A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family
- A Japanese patient with a mild Lenz-Majewski syndrome
- Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
- The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression
- Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis
- Genotype-phenotype correlation of 5p- syndrome : pitfall of diagnosis
- A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
- Phenotype-genotype correlation in two patients with 12q proximal deletion
- Renal tubular dysgenesis complicated with severe cranium hypoplasia