| 1 |
22391343 | Description and molecular modeling of a novel human leukocyte antigen allele: A*32:22. | 2012 May |
1 |
| 2 |
19730990 | Novel missense mutation in FHIT gene: interpreting the effect in HPV-mediated cervical cancer in Indian women. | 2010 Feb |
1 |
| 3 |
17427647 | A case of McCune-Albright syndrome with associated multiple endocrinopathies. | 2007 Mar |
1 |
| 4 |
16511838 | Evidence that variation in the peripheral benzodiazepine receptor (PBR) gene influences susceptibility to panic disorder. | 2006 Apr 5 |
2 |
| 5 |
16819283 | Genetic and expression analysis of the KCNRG gene in hepatocellular carcinomas. | 2006 Jun 30 |
1 |
| 6 |
16989961 | Synonymous codon usage and its potential link with optimal growth temperature in prokaryotes. | 2006 Dec 30 |
1 |
| 7 |
12561067 | p53 alteration is not an independent prognostic indicator, but affects the efficacy of adjuvant chemotherapy in human pancreatic cancer. | 2003 Feb |
1 |
| 8 |
11167791 | Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. | 2001 Jan |
1 |
| 9 |
11410419 | Alpha128 Arg-->Ser (CGT-->AGT) spectrin mutation associated with severe neonatal elliptopoikilocytosis in Spain. | 2001 May |
1 |
| 10 |
11842279 | R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis. | 2001 |
1 |
| 11 |
10722119 | Hb Siam [alpha15(A13)Gly-->Arg] is a GGT-->CGT mutation in the alpha1-globin gene. | 2000 Feb |
1 |
| 12 |
10502786 | A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome. | 1999 Oct |
1 |
| 13 |
9861481 | p53 gene mutations in asbestos associated cancers. | 1998 Sep |
1 |
| 14 |
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 |
| 15 |
9141561 | A novel point mutation in the insulin gene giving rise to hyperproinsulinemia. | 1997 May |
1 |
| 16 |
8601326 | Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: possible Japanese type alleles. | 1996 Apr |
1 |
| 17 |
8636380 | Hyperproinsulinemia in a three-generation Caucasian family due to mutant proinsulin (Arg65-His) not associated with imparied glucose tolerance: the contribution of mutant proinsulin to insulin bioactivity. | 1996 Apr |
1 |
| 18 |
8698744 | Distribution of Gs-alpha activating mutations in human thyroid tumors measured by subcloning. | 1996 |
2 |
| 19 |
8733382 | First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling. | 1996 Apr |
1 |
| 20 |
8766942 | Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. | 1996 Jun |
1 |
| 21 |
8769716 | Point mutation of the p53 gene is an infrequent event in untreated prostate cancer. | 1996 |
1 |
| 22 |
8855792 | Immunocytochemical detection of p53 in human thyroid carcinomas is associated with mutation and immortalization of cell lines. | 1996 Oct |
1 |
| 23 |
7565304 | p53 gene mutations in pediatric brain tumors. | 1995 Dec |
1 |
| 24 |
7866410 | Marked zinc activation of ester hydrolysis by a mutation, 67-His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I. | 1994 |
1 |
| 25 |
7909256 | Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome) | 1994 Apr |
1 |
| 26 |
8187056 | A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis. | 1994 Apr 29 |
1 |
| 27 |
8205256 | Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor. | 1994 Jun |
1 |
| 28 |
8556514 | Genetic diversity in human Fc receptor II for immunoglobulin G: Fc gamma receptor IIA ligand-binding polymorphism. | 1994 Nov |
1 |
| 29 |
7902568 | The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. | 1993 Nov 15 |
1 |
| 30 |
8118603 | Possible association of p53 overexpression and mutation with high-grade chondrosarcoma. | 1993 Dec |
1 |
| 31 |
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 |
| 32 |
8221663 | Mutations of the p53 gene are involved in Ewing's sarcomas but not in neuroblastomas. | 1993 Nov 1 |
1 |
| 33 |
8267567 | Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. | 1993 Dec 15 |
1 |
| 34 |
8320037 | Protein and gene structure analysis of an albumin genetic variant: proalbumin Wu Yang (-2 Arg-->His). | 1993 May |
1 |
| 35 |
8445019 | Point mutation in a family with hyperproinsulinemia detected by single stranded conformational polymorphism. | 1993 Mar |
1 |
| 36 |
1358601 | A pituitary specific point mutation of codon 201 of the Gs alpha gene in a pituitary adenoma of a patient with multiple endocrine neoplasia (MEN) type 1. | 1992 Jun |
1 |
| 37 |
1372103 | Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum. | 1992 Mar |
1 |
| 38 |
1445373 | Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit. | 1992 Sep |
1 |
| 39 |
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 |
| 40 |
1903761 | A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis. | 1991 Apr |
1 |
| 41 |
2043465 | Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis. | 1991 May |
1 |
| 42 |
2196279 | Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction. | 1990 Jul |
2 |
| 43 |
2328319 | Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. | 1990 Apr 15 |
1 |
| 44 |
3009377 | Amplifications of both c-Ki-ras with a point mutation and c-myc in a primary pancreatic cancer and its metastatic tumors in lymph nodes. | 1986 Apr |
1 |
| 45 |
6582486 | Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. | 1984 Jan |
1 |