Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.
American journal of human genetics | 1992-01-01 | PMID 1346075
McGinniss M J, Kazazian H H, Stetten G and 7 more
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 123 of 10600
Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation.
American journal of human genetics | 1992-01-01 | PMID 1346076
Maestrini E, Rivella S, Tribioli C and 6 more
Parental origin of factor IX gene mutations, and their distribution in the gene.
American journal of human genetics | 1992-01-01 | PMID 1346077
Ludwig M, Grimm T, Brackmann H H and 1 more
Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones.
American journal of human genetics | 1992-01-01 | PMID 1346081
Kessling A, Ouellette S, Bouffard O and 6 more
Genes: CAD
[New prognostic factors in human gastric carcinomas].
Gan to kagaku ryoho. Cancer & chemotherapy | 1992-01-01 | PMID 1346086
Yasui W, Nakayama H, Kuniyasu H and 4 more
Genes: EGF, ERBB2
Virulence of non-type 1-fimbriated and nonfimbriated nonflagellated Salmonella typhimurium mutants in murine typhoid fever.
Infection and immunity | 1992-02-01 | PMID 1346124
Lockman H A, Curtiss R
Avian P1 antigens inhibit agglutination mediated by P fimbriae of uropathogenic Escherichia coli.
Infection and immunity | 1992-02-01 | PMID 1346125
Johnson J R, Swanson J L, Neill M A
An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.
The Journal of biological chemistry | 1992-01-15 | PMID 1346132
Sligh J E, Hurwitz M Y, Zhu C M and 2 more
Loss of sperm in juvenile spermatogonial depletion (jsd) mutant mice is ascribed to a defect of intratubular environment to support germ cell differentiation.
Journal of cellular physiology | 1992-01-01 | PMID 1346141
Mizunuma M, Dohmae K, Tajima Y and 3 more
Searching for hematopoietic stem cells: evidence that Thy-1.1lo Lin- Sca-1+ cells are the only stem cells in C57BL/Ka-Thy-1.1 bone marrow.
The Journal of experimental medicine | 1992-01-01 | PMID 1346154
Uchida N, Weissman I L
Development of humanized bispecific antibodies reactive with cytotoxic lymphocytes and tumor cells overexpressing the HER2 protooncogene.
The Journal of experimental medicine | 1992-01-01 | PMID 1346155
Shalaby M R, Shepard H M, Presta L and 4 more
Restriction fragment length polymorphism of polymerase chain reaction products from vaccine and wild-type varicella-zoster virus isolates.
Journal of virology | 1992-02-01 | PMID 1346169
LaRussa P, Lungu O, Hardy I and 3 more
A novel variant of Sindbis virus is both neurovirulent and neuroinvasive in adult mice.
Archives of virology | 1992-01-01 | PMID 1346243
Lustig S, Halevy M, Ben-Nathan D and 1 more
Lipoproteins and their genetic variation in subjects with and without angiographically verified coronary artery disease.
Arteriosclerosis and thrombosis : a journal of vascular biology | 1992-01-01 | PMID 1346250
Nieminen M S, Mattila K J, Aalto-Setälä K and 7 more
Genes: CAD
DNA sequence variation in a negative control region 5' to the beta-globin gene correlates with the phenotypic expression of the beta s mutation.
Blood | 1992-02-01 | PMID 1346253
Elion J, Berg P E, Lapouméroulie C and 5 more
p53 mutation and loss of heterozygosity on chromosomes 17 and 10 during human astrocytoma progression.
Cancer research | 1992-02-01 | PMID 1346255
Fults D, Brockmeyer D, Tullous M W and 2 more
Analysis of the CYP2D6 gene in relation to debrisoquin and desipramine hydroxylation in a Swedish population.
Clinical pharmacology and therapeutics | 1992-01-01 | PMID 1346258
Dahl M L, Johansson I, Palmertz M P and 2 more
Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations.
Genetics | 1992-01-01 | PMID 1346259
Ballinger S W, Schurr T G, Torroni A and 5 more
Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations.
Genetics | 1992-01-01 | PMID 1346260
Torroni A, Schurr T G, Yang C C and 7 more
Detection of full fragile X mutation.
Lancet (London, England) | 1992-02-01 | PMID 1346284
Pergolizzi R G, Erster S H, Goonewardena P and 1 more
Overexpression of glutathione S-transferase and elevation of thiol pools in a multidrug-resistant human colon cancer cell line.
Molecular pharmacology | 1992-01-01 | PMID 1346333
Chao C C, Huang Y T, Ma C M and 2 more
Anti-oncogenic activity of signalling-defective epidermal growth factor receptor mutants.
Molecular and cellular biology | 1992-02-01 | PMID 1346334
Redemann N, Holzmann B, von Rüden T and 3 more
Genes: EGF
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.
The New England journal of medicine | 1992-02-13 | PMID 1346338
Medori R, Tritschler H J, LeBlanc A and 7 more
Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.
American journal of medical genetics | 1992-01-15 | PMID 1346348
Zhu D P, Economou E P, Antonarakis S E and 1 more
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).
American journal of medical genetics | 1992-01-15 | PMID 1346349
Hirschhorn R, Ellenbogen A, Tzall S
Genes: ADA
Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots.
American journal of obstetrics and gynecology | 1992-01-01 | PMID 1346350
Reindollar R H, Su B C, Bayer S R and 1 more
True histiocytic malignancy associated with a malignant teratoma in a patient with 46XY gonadal dysgenesis.
The American journal of surgical pathology | 1992-02-01 | PMID 1346359
Koo C H, Reifel J, Kogut N and 2 more
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.
Human genetics | 1992-01-01 | PMID 1346385
Stephens K, Kayes L, Riccardi V M and 3 more
Sib pair linkage analysis of renin gene haplotypes in human essential hypertension.
Human genetics | 1992-01-01 | PMID 1346386
Jeunemaitre X, Rigat B, Charru A and 3 more
Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.
Human genetics | 1992-01-01 | PMID 1346387
Follette P J, Laird C D
T-cell receptor alpha chain germline gene polymorphisms in multiple sclerosis.
Neurology | 1992-01-01 | PMID 1346471
Hillert J, Leng C, Olerup O
Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.
American journal of human genetics | 1992-02-01 | PMID 1346483
Solera J, Magallón M, Martin-Villar J and 1 more
Lack of association between dopamine D1 and D2 receptor genes and bipolar affective disorder.
The American journal of psychiatry | 1992-02-01 | PMID 1346486
Nöthen M M, Erdmann J, Körner J and 6 more
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.
Biochemical and biophysical research communications | 1992-01-31 | PMID 1346492
Mitsuuchi Y, Kawamoto T, Naiki Y and 7 more
Genes: GCG
Biochemical and genetic characterization of the multidrug resistance phenotype in murine macrophage-like J774.2 cells.
Biochemical pharmacology | 1992-01-09 | PMID 1346495
Kirschner L S, Greenberger L M, Hsu S I and 7 more
Linkage between rheumatoid arthritis susceptibility and the presence of HLA-DR4 and DR beta allelic third hypervariable region sequences in southern Chinese persons.
Arthritis and rheumatism | 1992-02-01 | PMID 1346498
Seglias J, Li E K, Cohen M G and 3 more
Amplification of reproducible allele markers for amplified fragment length polymorphism analysis.
BioTechniques | 1992-01-01 | PMID 1346500
Sajantila A, Puomilahti S, Johnsson V and 1 more
Population structure and mitochondrial DNA gene flow in Old World populations of Drosophila subobscura.
Heredity | 1992-01-01 | PMID 1346531
Latorre A, Hernández C, Martínez D and 3 more
Methylation status of the major breakpoint cluster region in Philadelphia chromosome negative leukemias.
Leukemia | 1992-01-01 | PMID 1346543
Litz C E, McClure J S, Coad J E and 2 more
Correlation of genetic and physical structure in the region surrounding the I2 Fusarium oxysporum resistance locus in tomato.
Molecular & general genetics : MGG | 1992-01-01 | PMID 1346546
Segal G, Sarfatti M, Schaffer M A and 3 more
Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma and adenocarcinoma of the lung.
Cancer research | 1992-02-15 | PMID 1346586
Yokoyama S, Yamakawa K, Tsuchiya E and 3 more
Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins.
The Journal of biological chemistry | 1992-02-15 | PMID 1346613
Nelson C, Rabb H, Arnaout M A
NH2-terminal globular domain of human platelet glycoprotein Ib alpha has a methionine 145/threonine145 amino acid polymorphism, which is associated with the HPA-2 (Ko) alloantigens.
The Journal of clinical investigation | 1992-02-01 | PMID 1346615
Kuijpers R W, Faber N M, Cuypers H T and 2 more
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
The Journal of clinical investigation | 1992-02-01 | PMID 1346616
Crane A M, Jansen R, Andrews E R and 1 more
Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
The Journal of clinical investigation | 1992-02-01 | PMID 1346617
Fukao T, Yamaguchi S, Orii T and 3 more
Strong association of insulin autoimmune syndrome with HLA-DR4.
Lancet (London, England) | 1992-02-15 | PMID 1346661
Uchigata Y, Kuwata S, Tokunaga K and 6 more
Tumour necrosis factor B gene polymorphism in relation to complotype in couples with spontaneous abortions and in control families.
Scandinavian journal of immunology | 1992-02-01 | PMID 1346726
Laitinen T, Lokki M L, Tulppala M and 2 more
Genes: TNF
Influence of the size and protonation state of acidic residue 85 on the absorption spectrum and photoreaction of the bacteriorhodopsin chromophore.
Biochimica et biophysica acta | 1992-01-30 | PMID 1346749
Lanyi J K, Tittor J, Váró G and 2 more
Three dimensional structure of the transmembrane region of the proto-oncogenic and oncogenic forms of the neu protein.
The EMBO journal | 1992-01-01 | PMID 1346763
Gullick W J, Bottomley A C, Lofts F J and 6 more
Entamoeba histolytica extrachromosomal circular ribosomal DNA: analysis of clonal variation in a hypervariable region.
Experimental parasitology | 1992-03-01 | PMID 1346767
Bhattacharya S, Bhattacharya A, Diamond L S
Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event.
Human genetics | 1992-02-01 | PMID 1346771
Ludwig M, Wohn K D, Schleuning W D and 1 more
The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.
Human genetics | 1992-02-01 | PMID 1346773
Greer W L, Peacocke M, Siminovitch K A
PCR-based RFLP analysis allows genotyping of the short arm of chromosome 3 in small biopsies from patients with lung cancer.
Genomics | 1992-02-01 | PMID 1346775
Ganly P S, Jarad N, Rudd R M and 1 more
Linkage analysis of spinal muscular atrophy.
Genomics | 1992-02-01 | PMID 1346777
Daniels R J, Thomas N H, MacKinnon R N and 7 more
Mouse genomic DNA sequences homologous to sea urchin TU elements are genetically stable polydispersed repeats useful for analysis of multiple RFLPs.
Genomics | 1992-02-01 | PMID 1346778
Gilbert D M, Hernandez R, Cohen S N
Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6.
Nature | 1992-02-06 | PMID 1346922
Chisaka O, Musci T S, Capecchi M R
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.
Nature | 1992-02-06 | PMID 1346923
Harley H G, Brook J D, Rundle S A and 6 more
Molecular characterization of hemoglobin C in Sicily.
American journal of hematology | 1992-01-01 | PMID 1346948
Travi M, Cremonesi L, Primignani P and 4 more
Novel genetic markers of rheumatoid arthritis in Chilean patients, by DR serotyping and restriction fragment length polymorphism analysis.
Arthritis and rheumatism | 1992-03-01 | PMID 1346960
González A, Nicovani S, Massardo L and 3 more
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.
Blood | 1992-03-01 | PMID 1346975
Ludwig M, Sabharwal A K, Brackmann H H and 4 more
Thy-1 involvement in neurite outgrowth: perturbation by antibodies, phospholipase C, and mutation.
Developmental biology | 1992-03-01 | PMID 1347021
Mahanthappa N K, Patterson P H
Viral phenotype and immune response in primary human immunodeficiency virus type 1 infection.
The Journal of infectious diseases | 1992-03-01 | PMID 1347054
Roos M T, Lange J M, de Goede R E and 4 more
Alterations of the P53 gene are associated with the progression of a human prostate carcinoma.
The Journal of urology | 1992-03-01 | PMID 1347085
Effert P J, Neubauer A, Walther P J and 1 more
Lymphocyte subsets in healthy children during the first 5 years of life.
JAMA | 1992-03-18 | PMID 1347086
Denny T, Yogev R, Gelman R and 5 more
Mutations of p53 and ras genes in radon-associated lung cancer from uranium miners.
Lancet (London, England) | 1992-03-07 | PMID 1347094
Vähäkangas K H, Samet J M, Metcalf R A and 4 more
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.
Nature | 1992-02-13 | PMID 1347148
Tassabehji M, Read A P, Newton V E and 4 more
C. elegans unc-4 gene encodes a homeodomain protein that determines the pattern of synaptic input to specific motor neurons.
Nature | 1992-02-27 | PMID 1347150
Miller D M, Shen M M, Shamu C E and 5 more
The endogenous retroviral ev21 locus in commercial chicken lines and its relationship with the slow-feathering phenotype (K).
Poultry science | 1992-01-01 | PMID 1347168
Boulliou A, Le Pennec J P, Hubert G and 2 more
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis.
American journal of human genetics | 1992-03-01 | PMID 1347196
Cogen P H, Daneshvar L, Metzger A K and 3 more
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
American journal of human genetics | 1992-03-01 | PMID 1347197
Ozelius L J, Kramer P L, de Leon D and 7 more
p53 mutations in human malignant gliomas: comparison of loss of heterozygosity with mutation frequency.
Cancer research | 1992-03-15 | PMID 1347252
Frankel R H, Bayona W, Koslow M and 1 more
Different pattern of chromosomal allele loss in multiple hepatocellular carcinomas as evidence of their multifocal origin.
Cancer research | 1992-03-15 | PMID 1347253
Tsuda H, Oda T, Sakamoto M and 1 more
Isolation and characterization of Actinomyces viscosus mutants defective in binding salivary proline-rich proteins.
Infection and immunity | 1992-03-01 | PMID 1347286
Nesbitt W E, Beem J E, Leung K P and 1 more
Identification of two porcine brush border glycoproteins that bind the K88ac adhesin of Escherichia coli and correlation of these glycoproteins with the adhesive phenotype.
Infection and immunity | 1992-03-01 | PMID 1347288
Erickson A K, Willgohs J A, McFarland S Y and 2 more
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
The Journal of clinical investigation | 1992-03-01 | PMID 1347297
Ryynänen M, Ryynänen J, Sollberg S and 3 more
Effects of in vivo T lymphocyte subset depletion on mycobacterial infections in mice.
Journal of leukocyte biology | 1992-03-01 | PMID 1347311
Flory C M, Hubbard R D, Collins F M
Mapping of the mouse ornithine decarboxylase-related sequence family.
Mammalian genome : official journal of the International Mammalian Genome Society | 1992-01-01 | PMID 1347476
Richards-Smith B A, Elliott R W
No effect of a Taq1 polymorphism in DNA at the endothelin I (EDN1) locus on normal blood pressure level or variability.
Clinical genetics | 1992-02-01 | PMID 1347490
Berge K E, Berg K
Genes: EDN1
Transforming growth factor-beta enhances the in vivo effector function and memory phenotype of antigen-specific T helper cells in experimental autoimmune encephalomyelitis.
Journal of immunology (Baltimore, Md. : 1950) | 1992-04-01 | PMID 1347550
Weinberg A D, Whitham R, Swain S L and 5 more
CD4+ Th2 response induced by Schistosoma mansoni eggs develops rapidly, through an early, transient, Th0-like stage.
Journal of immunology (Baltimore, Md. : 1950) | 1992-04-01 | PMID 1347553
Vella A T, Pearce E J
Fibrinogen genotype and risk of peripheral atherosclerosis.
Lancet (London, England) | 1992-03-21 | PMID 1347581
Fowkes F G, Connor J M, Smith F B and 3 more
Isolation, characterization, and genetic analysis of monosomic, aneuploid mutants of Candida albicans.
Molecular microbiology | 1992-01-01 | PMID 1347636
Barton R C, Gull K
Silent pilin genes of Neisseria gonorrhoeae MS11 and the occurrence of related hypervariant sequences among other gonococcal isolates.
Molecular microbiology | 1992-01-01 | PMID 1347637
Haas R, Veit S, Meyer T F
Progression of colorectal cancer is associated with multiple tumor suppressor gene defects but inhibition of tumorigenicity is accomplished by correction of any single defect via chromosome transfer.
Molecular and cellular biology | 1992-03-01 | PMID 1347643
Goyette M C, Cho K, Fasching C L and 5 more
Genes: APC, DCC, MCC
Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations.
Molecular and cellular probes | 1992-02-01 | PMID 1347644
Gasparini P, Bonizzato A, Dognini M and 1 more
A single base change at a splice acceptor site leads to a truncated CAD protein in Urd-A mutant Chinese hamster ovary cells.
Somatic cell and molecular genetics | 1992-01-01 | PMID 1347664
Patterson D, Berger R, Bleskan J and 2 more
Genes: CAD
High blood pressure: hunting the genes.
BioEssays : news and reviews in molecular, cellular and developmental biology | 1992-01-01 | PMID 1347682
Leckie B J
Two alloalbumins with identical electrophoretic mobility are produced by differently charged amino acid substitutions.
Biochimica et biophysica acta | 1992-03-12 | PMID 1347703
Minchiotti L, Galliano M, Stoppini M and 4 more
Lack of association between an RFLP near the D2 dopamine receptor gene and severe alcoholism.
Biological psychiatry | 1992-02-01 | PMID 1347705
Turner E, Ewing J, Shilling P and 4 more
Genes: DRD2
Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.
Blood | 1992-03-15 | PMID 1347706
Bovill E G, Tomczak J A, Grant B and 4 more
Genes: GLA
Taste synergism between monosodium glutamate and 5'-ribonucleotide in mice.
Comparative biochemistry and physiology. A, Comparative physiology | 1992-01-01 | PMID 1347736
Ninomiya Y, Kurenuma S, Nomura T and 2 more
An investigation of Japanese subjects maps susceptibility to type 1 (insulin-dependent) diabetes mellitus close to the DQA1 gene.
Human immunology | 1992-01-01 | PMID 1347765
Jacobs K H, Jenkins D, Mijovic C and 7 more
Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status.
The Journal of clinical endocrinology and metabolism | 1992-04-01 | PMID 1347772
Quigley C A, Friedman K J, Johnson A and 7 more
The unc-18 gene encodes a novel protein affecting the kinetics of acetylcholine metabolism in the nematode Caenorhabditis elegans.
Journal of neurochemistry | 1992-04-01 | PMID 1347782
Hosono R, Hekimi S, Kamiya Y and 6 more
Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
Neurology | 1992-03-01 | PMID 1347910
Medori R, Montagna P, Tritschler H J and 5 more
Three distinct regions involved in 3p deletion in human lung cancer.
Oncogene | 1992-03-01 | PMID 1347916
Hibi K, Takahashi T, Yamakawa K and 7 more
Extensive genetic diversity in the HLA class II region of Africans, with a focally predominant allele, DRB1*1304.
Proceedings of the National Academy of Sciences of the United States of America | 1992-03-15 | PMID 1347946
Hill A V, Allsopp C E, Kwiatkowski D and 7 more
PCR amplification of alleles at the DIS80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation.
American journal of human genetics | 1992-04-01 | PMID 1347970
Sajantila A, Budowle B, Ström M and 4 more
Characterization of natural populations of Nitrobacter spp. using PCR/RFLP analysis of the ribosomal intergenic spacer.
Archives of microbiology | 1992-01-01 | PMID 1347989
Navarro E, Simonet P, Normand P and 1 more
Allelic losses at chromosome 17p in human renal cell carcinoma are inversely related to allelic losses at chromosome 3p.
Cancer research | 1992-04-01 | PMID 1348014
Ogawa O, Habuchi T, Kakehi Y and 3 more