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 1301 of 10600

Rapid genotyping of factor V Leiden mutation using single-tube bidirectional allele-specific amplification and automated ultrathin-layer agarose gel electrophoresis.
Electrophoresis | 2000-03-01 | PMID 10733227
Sasvari-Szekely M, Gerstner A, Ronai Z and 2 more
Impact of age and body size on inter-individual variation in measures of lipid metabolism: influence of gender and apolipoprotein E genotype.
Clinical genetics | 2000-01-01 | PMID 10733234
Lussier-Cacan S, Bolduc A, Xhignesse M and 3 more
Assessment of education and counselling offered by a familial colorectal cancer clinic.
Clinical genetics | 2000-01-01 | PMID 10733235
Collins V, Halliday J, Warren R and 1 more
Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis.
Clinical genetics | 2000-01-01 | PMID 10733236
Zebrak J, Skuza B, Pogorzelski A and 5 more
Genes: CFTR
An SRY-negative XX male with Huriez syndrome.
Clinical genetics | 2000-01-01 | PMID 10733237
Vernole P, Terrinoni A, Didona B and 4 more
Genes: SRY
Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.
Clinical genetics | 2000-01-01 | PMID 10733238
Riqué S, Nogués C, Ibàñez L and 4 more
An unaffected individual from a breast/ovarian cancer family with germline mutations in both BRCA1 and BRCA2.
Clinical genetics | 2000-01-01 | PMID 10733239
Moslehi R, Russo D, Phelan C and 3 more
Genes: BRCA1, BRCA2
Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.
Clinical genetics | 2000-01-01 | PMID 10733240
Marchini C, Lonigro R, Verriello L and 3 more
Genes: DMPK
Incidence of highly genetically diversified Vibrio parahaemolyticus in seafood imported from Asian countries.
International journal of food microbiology | 1999-11-15 | PMID 10733249
Wong H C, Chen M C, Liu S H and 1 more
DNA pooling in mutation detection with reference to sequence analysis.
American journal of human genetics | 2000-05-01 | PMID 10733464
Amos C I, Frazier M L, Wang W
Genes: STK11
Evidence for variable selective pressures at MC1R.
American journal of human genetics | 2000-04-01 | PMID 10733465
Harding R M, Healy E, Ray A J and 8 more
The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.
American journal of human genetics | 2000-05-01 | PMID 10733466
Kruse S, Mao X Q, Heinzmann A and 9 more
Association of the TNFa13 microsatellite with systemic sclerosis in Japanese patients.
Annals of the rheumatic diseases | 2000-04-01 | PMID 10733477
Takeuchi F, Nabeta H, Füssel M and 2 more
Phenotypic and functional characteristics of hematopoietic cell lineages in CD69-deficient mice.
Blood | 2000-04-01 | PMID 10733501
Lauzurica P, Sancho D, Torres M and 6 more
Granule exocytosis, and not the fas/fas ligand system, is the main pathway of cytotoxicity mediated by alloantigen-specific CD4(+) as well as CD8(+) cytotoxic T lymphocytes in humans.
Blood | 2000-04-01 | PMID 10733506
Yasukawa M, Ohminami H, Arai J and 3 more
Cell cycle regulatory gene abnormalities are important determinants of leukemogenesis and disease biology in adult acute lymphoblastic leukemia.
Blood | 2000-04-01 | PMID 10733508
Stock W, Tsai T, Golden C and 6 more
Variant genotypes of FcgammaRIIIA influence the development of Kaposi's sarcoma in HIV-infected men.
Blood | 2000-04-01 | PMID 10733511
Lehrnbecher T L, Foster C B, Zhu S and 9 more
Human natural killer T cells acquire a memory-activated phenotype before birth.
Blood | 2000-04-01 | PMID 10733519
van Der Vliet H J, Nishi N, de Gruijl T D and 5 more
Coinfection of multiple strains of Epstein-Barr virus in immunocompetent normal individuals: reassessment of the viral carrier state.
Blood | 2000-04-01 | PMID 10733520
Srivastava G, Wong K Y, Chiang A K and 2 more
Genetic control of hematopoietic stem cell frequency in mice is mostly cell autonomous.
Blood | 2000-04-01 | PMID 10733521
Müller-Sieburg C E, Cho R H, Sieburg H B and 2 more
mus304 encodes a novel DNA damage checkpoint protein required during Drosophila development.
Genes & development | 2000-03-15 | PMID 10733527
Brodsky M H, Sekelsky J J, Tsang G and 2 more
Genes: ATM
Detection of adenovirus and initiation of apoptosis in hepatocellular carcinoma cells after Ad-p53 treatment.
Hepatology (Baltimore, Md.) | 2000-04-01 | PMID 10733544
Mitry R R, Sarraf C E, Havlík R and 1 more
Genetic polymorphism of alcohol dehydrogenase in europeans: the ADH2*2 allele decreases the risk for alcoholism and is associated with ADH3*1.
Hepatology (Baltimore, Md.) | 2000-04-01 | PMID 10733556
Borràs E, Coutelle C, Rosell A and 19 more
Phenotypic characterization of the murine Nkx2.6 homeobox gene by gene targeting.
Molecular and cellular biology | 2000-04-01 | PMID 10733590
Tanaka M, Yamasaki N, Izumo S
Protein kinase C-theta participates in NF-kappaB activation induced by CD3-CD28 costimulation through selective activation of IkappaB kinase beta.
Molecular and cellular biology | 2000-04-01 | PMID 10733597
Lin X, O'Mahony A, Mu Y and 2 more
Mitochondria and skin disease.
Clinical and experimental dermatology | 2000-03-01 | PMID 10733641
Birch-Machin M A
Vitiligo is not caused by mutations in GTP-cyclohydrolase I gene.
Clinical and experimental dermatology | 2000-03-01 | PMID 10733643
Bandyopadhyay D, Lawrence E, Majumder P P and 1 more
Overexpression of the oncofetal Fn variant containing the EDA splice-in segment in the dermal-epidermal junction of psoriatic uninvolved skin.
The Journal of investigative dermatology | 2000-04-01 | PMID 10733677
Ting K M, Rothaupt D, McCormick T S and 6 more
Genes: EDA
Invasion of Candida albicans correlates with expression of secreted aspartic proteinases during experimental infection of human epidermis.
The Journal of investigative dermatology | 2000-04-01 | PMID 10733678
Schaller M, Schackert C, Korting H C and 2 more
arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.
The Journal of investigative dermatology | 2000-04-01 | PMID 10733681
Lambert J, Naeyaert J M, De Paepe A and 4 more
Minicircle kDNA microheterogeneity in Endotrypanum indicate diversity within this genus.
Memorias do Instituto Oswaldo Cruz | 2000-01-01 | PMID 10733737
Franco A M, Machado G M, Moreira C F and 1 more
Frequency of CCR5 delta-32 mutation in human immunodeficiency virus (HIV)-seropositive and HIV-exposed seronegative individuals and in general population of Medellin, Colombia.
Memorias do Instituto Oswaldo Cruz | 2000-01-01 | PMID 10733746
Díaz F J, Vega J A, Patiño P J and 5 more
Genes: CCR5
Transforming growth factor beta in relation to cardiac allograft vasculopathy after heart transplantation.
The Journal of thoracic and cardiovascular surgery | 2000-04-01 | PMID 10733758
Aziz T, Hasleton P, Hann A W and 3 more
The effects of RAD52 epistasis group genes on various types of spontaneous mitotic recombination in Saccharomyces cerevisiae.
Biochemical and biophysical research communications | 2000-04-02 | PMID 10733913
You J C
Genes: RAD52, RAD50
Cysteine 3 is not the site of in vitro palmitoylation on G(salpha).
Biochemical and biophysical research communications | 2000-04-02 | PMID 10733916
Scholich K, Yigzaw Y, Patel T B
An N-terminal 33-amino-acid-deletion variant of hsp25 retains oligomerization and functional properties.
Biochemical and biophysical research communications | 2000-04-02 | PMID 10733925
Guo Z, Cooper L F
A novel protein MAJN binds to Jak3 and inhibits apoptosis induced by IL-2 deprival.
Biochemical and biophysical research communications | 2000-04-02 | PMID 10733938
Ji H, Zhai Q, Zhu J and 4 more
Molecular diffusion into ferritin: pathways, temperature dependence, incubation time, and concentration effects.
Biophysical journal | 2000-04-01 | PMID 10733983
Yang X, Arosio P, Chasteen N D
Pharmacogenomics and metabolite measurement for 6-mercaptopurine therapy in inflammatory bowel disease.
Gastroenterology | 2000-04-01 | PMID 10734022
Dubinsky M C, Lamothe S, Yang H Y and 4 more
Genes: TPMT
Natural history of hepatitis C virus carriers with persistently normal aminotransferase levels.
Gastroenterology | 2000-04-01 | PMID 10734027
Persico M, Persico E, Suozzo R and 6 more
Regulation by neurotransmitter receptors of serotonergic or catecholaminergic neuronal cell differentiation.
The Journal of biological chemistry | 2000-03-31 | PMID 10734054
Mouillet-Richard S, Mutel V, Loric S and 3 more
Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics.
The Journal of biological chemistry | 2000-03-31 | PMID 10734061
Kraus R L, Sinnegger M J, Koschak A and 4 more
Mechanism by which phosphonoformic acid resistance mutations restore 3'-azido-3'-deoxythymidine (AZT) sensitivity to AZT-resistant HIV-1 reverse transcriptase.
The Journal of biological chemistry | 2000-03-31 | PMID 10734063
Arion D, Sluis-Cremer N, Parniak M A
Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency.
The Journal of biological chemistry | 2000-03-31 | PMID 10734064
Gómez-Gallego F, Garrido-Pertierra A, Bautista J M
The PDZ domains of zonula occludens-1 induce an epithelial to mesenchymal transition of Madin-Darby canine kidney I cells. Evidence for a role of beta-catenin/Tcf/Lef signaling.
The Journal of biological chemistry | 2000-03-31 | PMID 10734097
Reichert M, Müller T, Hunziker W
Cocaine-induced seizure thresholds: quantitative trait loci detection and mapping in two populations derived from the C57BL/6 and DBA/2 mouse strains.
The Journal of pharmacology and experimental therapeutics | 2000-04-01 | PMID 10734168
Hain H S, Crabbe J C, Bergeson S E and 1 more
A new label technology for the detection of specific polymerase chain reaction products in a closed tube.
Nucleic acids research | 2000-04-15 | PMID 10734205
Nurmi J, Ylikoski A, Soukka T and 2 more
MethyLight: a high-throughput assay to measure DNA methylation.
Nucleic acids research | 2000-04-15 | PMID 10734209
Eads C A, Danenberg K D, Kawakami K and 5 more
Genes: MLH1
Existence of a plant tyrosylprotein sulfotransferase: novel plant enzyme catalyzing tyrosine O-sulfation of preprophytosulfokine variants in vitro.
FEBS letters | 2000-03-24 | PMID 10734215
Hanai H, Nakayama D, Yang H and 3 more
Sterol metabolism and ERG2 gene regulation in the yeast Saccharomyces cerevisiae.
FEBS letters | 2000-03-24 | PMID 10734216
Soustre I, Dupuy P H, Silve S and 2 more
The SixA phospho-histidine phosphatase modulates the ArcB phosphorelay signal transduction in Escherichia coli.
FEBS letters | 2000-03-24 | PMID 10734219
Matsubara M, Mizuno T
A single amino acid change makes a rat neuronal sodium channel highly sensitive to pyrethroid insecticides.
FEBS letters | 2000-03-24 | PMID 10734222
Vais H, Atkinson S, Eldursi N and 3 more
Genome microarray analysis of transcriptional activation in multidrug resistance yeast mutants.
FEBS letters | 2000-03-24 | PMID 10734226
DeRisi J, van den Hazel B, Marc P and 4 more
Communicating hydrocephalus in a patient with Gaucher's disease type 3.
Pediatric neurology | 2000-03-01 | PMID 10734257
Shiihara T, Oka A, Suzaki I and 2 more
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.
Neuromuscular disorders : NMD | 2000-03-01 | PMID 10734268
Thuillier L, Sevin C, Demaugre F and 8 more
Induction of erythroid differentiation by inhibition of Ras/ERK pathway in a friend murine leukemia cell line.
Oncogene | 2000-03-16 | PMID 10734309
Matsuzaki T, Aisaki K i, Yamamura Y and 2 more
Genes: EPO
Sustained recruitment of phospholipase C-gamma to Gab1 is required for HGF-induced branching tubulogenesis.
Oncogene | 2000-03-16 | PMID 10734310
Gual P, Giordano S, Williams T A and 3 more
Genes: HGF, EGF, GRB2
Somatic mutations of the MET oncogene are selected during metastatic spread of human HNSC carcinomas.
Oncogene | 2000-03-16 | PMID 10734314
Di Renzo M F, Olivero M, Martone T and 7 more
Genes: MET
Microsatellite instability and the PTEN1 gene mutation in a subset of early onset gliomas carrying germline mutation or promoter methylation of the hMLH1 gene.
Oncogene | 2000-03-16 | PMID 10734316
Kanamori M, Kon H, Nobukuni T and 8 more
M6P/IGF2R is mutated in squamous cell carcinoma of the lung.
Oncogene | 2000-03-16 | PMID 10734317
Kong F M, Anscher M S, Washington M K and 2 more
Genes: IGF2
[Structural and functional characteristics of ATP-dependent Lon-proteinase from Escherichia coli].
Bioorganicheskaia khimiia | 1999-12-01 | PMID 10734549
Rotanova T V
Las21 participates in extracellular/cell surface phenomena in Saccharomyces cerevisiae.
Genes & genetic systems | 1999-10-01 | PMID 10734606
Tohe A, Oguchi T
Sequence variation and evolution of the mitochondrial DNA control region in the musk shrew, Suncus murinus.
Genes & genetic systems | 1999-10-01 | PMID 10734607
Yamagata T, Namikawa T
Presence and phylogenetic analysis of HERV-K LTR on human X and Y chromosomes: evidence for recent proliferation.
Genes & genetic systems | 1999-10-01 | PMID 10734608
Kim H S, Crow T J
A variant of myelokathexis with hypogammaglobulinemia: lymphocytes as well as neutrophils may reverse in response to infections.
Pediatric hematology and oncology | 2000-03-01 | PMID 10734660
Arai J, Wakiguchi H, Hisakawa H and 2 more
[Age-related maculopathy. Comparative studies of patients, their children and healthy controls].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft | 2000-02-01 | PMID 10734733
Schweitzer D, Lang G E, Remsch H and 5 more
Gene frequencies of ABO and Rh (D) blood group alleles in a healthy infant population in Ibadan, Nigeria.
West African journal of medicine | 2000-01-01 | PMID 10734795
Omotade O O, Adeyemo A A, Kayode C M and 2 more
Genes: ABO
Psychological impact of genetic testing for adult-onset disorders. An update for clinicians.
The Medical journal of Australia | 2000-02-07 | PMID 10735024
Meiser B, Gleeson M A, Tucker K M
Mitochondrial genotype segregation and effects during mammalian development: applications to biotechnology.
Theriogenology | 2000-01-01 | PMID 10735060
Smith L C, Bordignon V, Garcia J M and 1 more
Growth hormone gene polymorphism and reproductive performance of AI bulls.
Theriogenology | 1999-11-01 | PMID 10735092
Lechniak D, Machnik G, Szydlowski M and 1 more
Genetic effects of aging on egg production traits in the first laying cycle of White Leghorn strains and strain crosses.
Poultry science | 2000-03-01 | PMID 10735193
Ledur M C, Fairfull R W, McMillan I and 1 more
Utility of three restriction fragment length polymorphism probes for genotyping of the chicken major histocompatibility complex class IV region.
Poultry science | 2000-03-01 | PMID 10735194
Nishibori M, Nakaki S, Tsudzuki M and 1 more
Phenotypic and genotypic diversity of yeasts isolated from water-buffalo Mozzarella cheese.
Journal of applied microbiology | 2000-01-01 | PMID 10735250
Suzzi G, Lombardi A, Lanorte M T and 3 more
A model for susceptibility polymorphisms for complex diseases: apolipoprotein E and Alzheimer disease.
Neurogenetics | 1997-05-01 | PMID 10735268
Roses A D
Genes: APOE
Oxidative phosphorylation defects and Alzheimer's disease.
Neurogenetics | 1997-05-01 | PMID 10735269
Shoffner J M
Multiple sclerosis: a polygenic disease involving epistatic interactions, germline rearrangements and environmental effects.
Neurogenetics | 1997-05-01 | PMID 10735270
Karpuj M V, Steinman L, Oksenberg J R
A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.
Neurogenetics | 1997-05-01 | PMID 10735271
Novelli G, Semprini S, Capon F and 1 more
Genes: NAIP
Locus heterogeneity in Friedreich ataxia.
Neurogenetics | 1997-05-01 | PMID 10735274
Kostrzewa M, Klockgether T, Damian M S and 1 more
Genes: GAA
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
Neurogenetics | 1997-05-01 | PMID 10735275
Duggan D J, Manchester D, Stears K P and 3 more
SCA2 trinucleotide expansion in German SCA patients.
Neurogenetics | 1997-05-01 | PMID 10735276
Riess O, Laccone F A, Gispert S and 20 more
Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis.
Neurogenetics | 1997-05-01 | PMID 10735277
Zu J S, Deng H X, Lo T P and 6 more
Genes: SOD1
Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis.
Neurogenetics | 1997-05-01 | PMID 10735278
Graeber M B, Kösel S, Egensperger R and 7 more
Genes: APP
Distribution of haptoglobin phenotypes in a Korean population, using the semi-automated PhastSystem.
Annals of clinical biochemistry | 2000-03-01 | PMID 10735365
Yang S E, Min W K, Park H and 3 more
c-erbB-4 protein expression in human breast cancer.
British journal of cancer | 2000-03-01 | PMID 10735500
Kew T Y, Bell J A, Pinder S E and 6 more
Genes: EGFR
An NH2-terminal deleted plasma membrane H+-ATPase is a dominant negative mutant and is sequestered in endoplasmic reticulum derived structures.
Biochemistry and cell biology = Biochimie et biologie cellulaire | 2000-01-01 | PMID 10735563
Masuda C A, Montero-Lomelí M
Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis.
Annals of human genetics | 1999-09-01 | PMID 10735581
Meulenbelt I, Bijkerk C, De Wildt S C and 6 more
Evidence for a major gene accounting for mild elevation in LDL cholesterol: the NHLBI Family Heart Study.
Annals of human genetics | 1999-09-01 | PMID 10735582
Coon H, Leppert M F, Kronenberg F and 7 more
Genes: APOE, LDLR
Phylogeographic patterns of mtDNA reflecting the colonization of the Canary Islands.
Annals of human genetics | 1999-09-01 | PMID 10735583
Rando J C, Cabrera V M, Larruga J M and 4 more
Statistical genetic analysis of plasma levels of vitamin D: familial study.
Annals of human genetics | 1999-09-01 | PMID 10735584
Livshits G, Karasik D, Seibel M J
The additive genetic gamma frailty model for linkage analysis of age-of-onset variation.
Annals of human genetics | 1999-09-01 | PMID 10735586
Li H
Establishment and epitope analysis of allo-specific cytotoxic T lymphocytes at a tumor site recognizing a spouse's HLA-A0206 molecule.
American journal of reproductive immunology (New York, N.Y. : 1989) | 2000-03-01 | PMID 10735593
Seki N, Yamada A, Suefuji Y and 6 more
Cholangiocarcinoma in primary sclerosing cholangitis: K-ras mutations and Tp53 dysfunction are implicated in the neoplastic development.
Journal of hepatology | 2000-03-01 | PMID 10735605
Boberg K M, Schrumpf E, Bergquist A and 6 more
Detection of alpha-1-antitrypsin PiZ individuals by SSCP and DNA sequencing in formalin-fixed and paraffin-embedded tissue: a comparison with immunohistochemical analysis.
Journal of hepatology | 2000-03-01 | PMID 10735609
Ortiz-Pallardó M E, Ko Y, Sachinidis A and 3 more
Cross-genotypic interaction between hepatitis C virus NS3 protease domains and NS4A cofactors.
Journal of hepatology | 2000-03-01 | PMID 10735621
Wright-Minogue J, Yao N, Zhang R and 4 more
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
Clinical genetics | 2000-02-01 | PMID 10735630
Prasad C, Prasad A N, Chodirker B N and 4 more
Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T-lymphocytes.
Clinical genetics | 2000-02-01 | PMID 10735631
Raungaard B, Jensen H K, Brorholt-Petersen J U and 2 more
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
Clinical genetics | 2000-02-01 | PMID 10735632
Lombardi M P, Redeker E J, Defesche J C and 5 more
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
Clinical genetics | 2000-02-01 | PMID 10735633
Larsen L A, Svendsen I H, Jensen A M and 8 more
Genes: KCNH2
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.
Clinical genetics | 2000-02-01 | PMID 10735634
Teng Y N, Wang T R, Hwu W L and 2 more
Genes: IDUA
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.
Clinical genetics | 2000-02-01 | PMID 10735635
von Gernet S, Golla A, Ehrenfels Y and 2 more
Genes: FGFR2