| 1 |
24782527 | GeneGenie: optimized oligomer design for directed evolution. | 2014 Jul |
1 |
| 2 |
21528912 | Membrane topology of the colicin E1 channel using genetically encoded fluorescence. | 2011 Jun 7 |
1 |
| 3 |
20809772 | A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. | 2010 Dec |
1 |
| 4 |
19064006 | Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia. | 2009 Apr |
1 |
| 5 |
19582367 | CTNNB1 (beta-catenin) mutation is rare in brain tumours but involved as a sporadic event in a brain metastasis. | 2009 Sep |
1 |
| 6 |
18380777 | Description of two novel HLA-DPA1 alleles: DPA1*0110 and DPA1*010304. | 2008 Jun |
1 |
| 7 |
18618990 | Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation. | 2008 |
1 |
| 8 |
17427647 | A case of McCune-Albright syndrome with associated multiple endocrinopathies. | 2007 Mar |
1 |
| 9 |
17671710 | Nras and Kras mutation in Japanese lung cancer patients: Genotyping analysis using LightCycler. | 2007 Sep |
1 |
| 10 |
16215932 | Novel GLA gene mutations in two Chinese families with classic Fabry disease. | 2005 Oct |
1 |
| 11 |
14718395 | Rapid detection of K-ras mutations in bile by peptide nucleic acid-mediated PCR clamping and melting curve analysis: comparison with restriction fragment length polymorphism analysis. | 2004 Mar |
1 |
| 12 |
14990969 | K-ras gene mutational analysis supports a monoclonal origin of biphasic pleomorphic carcinoma of the lung. | 2004 May |
1 |
| 13 |
15140039 | HLA-B*1819, a novel HLA-B allele identified by sequence-based typing. | 2004 Jun |
1 |
| 14 |
15534230 | Selenophosphate synthetase genes from lung adenocarcinoma cells: Sps1 for recycling L-selenocysteine and Sps2 for selenite assimilation. | 2004 Nov 16 |
1 |
| 15 |
12871501 | Fibrinogens Kosai and Ogasa: Bbeta15Gly-->Cys (GGT-->TGT) substitution associated with impairment of fibrinopeptide B release and lateral aggregation. | 2003 Feb |
2 |
| 16 |
11134895 | Overexpression of wild type and SeCys/Cys mutant of human thioredoxin reductase in E. coli: the role of selenocysteine in the catalytic activity. | 2001 Jan 1 |
1 |
| 17 |
11842279 | R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis. | 2001 |
1 |
| 18 |
11236630 | [Genetic analysis of hereditary factor VII deficiency from a Chinese pedigree]. | 2000 Dec |
1 |
| 19 |
9544375 | Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. | 1998 |
1 |
| 20 |
9796399 | [t(3;5) (q21;q31) chromosomal abnormality in a patient with acute myelogenous leukemia with trilineage myelodysplasia]. | 1998 Sep |
1 |
| 21 |
11189233 | Detection of gsp oncogene in growth hormone-secreting pituitary adenomas and the study of clinical characteristics of acromegalic patients with gsp-positive pituitary tumors. | 1998 Oct |
1 |
| 22 |
9134629 | Compound heterozygosity for two novel missense mutations in the prothrombin gene in a patient with a severe bleeding tendency. | 1997 Apr |
2 |
| 23 |
8698744 | Distribution of Gs-alpha activating mutations in human thyroid tumors measured by subcloning. | 1996 |
2 |
| 24 |
8972003 | A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome. | 1996 Dec |
1 |
| 25 |
9182295 | p53 in a thyroid follicular carcinoma with foci of poorly differentiated and anaplastic carcinoma. | 1996 Dec |
1 |
| 26 |
7565304 | p53 gene mutations in pediatric brain tumors. | 1995 Dec |
1 |
| 27 |
7721766 | Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly. | 1995 Apr 14 |
1 |
| 28 |
7840579 | Resistance of human immunodeficiency virus type 1 to acyclic 6-phenylselenenyl- and 6-phenylthiopyrimidines. | 1994 Oct |
3 |
| 29 |
8080993 | A new substitution, gamma 358 Ser-->Cys, in fibrinogen Milano VII causes defective fibrin polymerization. | 1994 Sep 15 |
1 |
| 30 |
7902568 | The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. | 1993 Nov 15 |
1 |
| 31 |
8093243 | Limulus hemocyte transglutaminase. cDNA cloning, amino acid sequence, and tissue localization. | 1993 Jan 5 |
1 |
| 32 |
8136274 | A novel dysfunctional protein C (protein C Padua 2) associated with a thrombotic tendency: substitution of Cys for Arg-1 results in a strongly reduced affinity for binding of Ca++. | 1993 Nov |
1 |
| 33 |
8435324 | Severe poikilocytosis associated with a de novo alpha 28 Arg-->Cys mutation in spectrin. | 1993 Jan |
1 |
| 34 |
1339397 | Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. | 1992 Mar |
1 |
| 35 |
1445373 | Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit. | 1992 Sep |
1 |
| 36 |
1737847 | An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. | 1992 Feb |
1 |
| 37 |
1674745 | Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. | 1991 Jun 5 |
1 |
| 38 |
1907800 | Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. | 1991 Aug |
1 |
| 39 |
3280121 | Point mutation of the ras protooncogenes and chromosome aberrations in acute nonlymphocytic leukemia and preleukemia related to therapy with alkylating agents. | 1988 Apr 1 |
1 |