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 1404 of 10600

Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.
American journal of medical genetics | 2000-09-18 | PMID 10995506
Silvestri G, Rana M, Odoardi F and 5 more
Attitudes toward an unsolicited approach in relation to status of genetic disease: exemplified by alpha(1)-antitrypsin deficiency.
American journal of medical genetics | 2000-09-18 | PMID 10995507
Wilcke J T, Seersholm N, Kok-Jensen A and 1 more
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.
American journal of medical genetics | 2000-09-18 | PMID 10995508
Krakowiak P A, Nwokoro N A, Wassif C A and 6 more
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.
American journal of medical genetics | 2000-09-18 | PMID 10995510
Tassone F, Hagerman R J, Loesch D Z and 3 more
Genes: FMR1
Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
American journal of medical genetics | 2000-09-18 | PMID 10995512
Wada T, Kubota T, Fukushima Y and 1 more
Genes: ATR, ATRX
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
American journal of medical genetics | 2000-09-18 | PMID 10995514
Zollino M, Di Stefano C, Zampino G and 12 more
Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21.
Genomics | 2000-09-15 | PMID 10995566
Xiao S, Wang X, Qu B and 11 more
Genes: HGF
Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.
Genomics | 2000-09-15 | PMID 10995568
Sugimoto Y, Morita R, Amano K and 6 more
Genes: STS
Physical localization of the mesoderm development (mesd) functional region.
Genomics | 2000-09-15 | PMID 10995574
Wines M E, Shi Y, Lindor M and 1 more
The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF.
The Journal of biological chemistry | 2000-12-15 | PMID 10995736
Melhuish T A, Wotton D
ERK1 and ERK2 activate CCAAAT/enhancer-binding protein-beta-dependent gene transcription in response to interferon-gamma.
The Journal of biological chemistry | 2001-01-05 | PMID 10995751
Hu J, Roy S K, Shapiro P S and 5 more
Genes: EBP, JAK1, STAT1
Identification of domain-domain docking sites within Clostridium symbiosum pyruvate phosphate dikinase by amino acid replacement.
The Journal of biological chemistry | 2000-12-29 | PMID 10995759
Wei M, Li Z, Ye D and 2 more
Contrasting effects of IRS-1 versus IRS-2 gene disruption on carbohydrate and lipid metabolism in vivo.
The Journal of biological chemistry | 2000-12-15 | PMID 10995761
Previs S F, Withers D J, Ren J M and 2 more
Signaling complexes and protein-protein interactions involved in the activation of the Ras and phosphatidylinositol 3-kinase pathways by the c-Ret receptor tyrosine kinase.
The Journal of biological chemistry | 2000-12-15 | PMID 10995764
Besset V, Scott R P, Ibáñez C F
Genes: GDNF
Myocyte enhancer factors-2B and -2C are required for adhesion related kinase repression of neuronal gonadotropin releasing hormone gene expression.
The Journal of biological chemistry | 2000-12-15 | PMID 10995769
Allen M P, Xu M, Zeng C and 2 more
A polymorphic protease-activated receptor 2 (PAR2) displaying reduced sensitivity to trypsin and differential responses to PAR agonists.
The Journal of biological chemistry | 2000-12-15 | PMID 10995771
Compton S J, Cairns J A, Palmer K J and 3 more
Role of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis.
The Journal of clinical investigation | 2000-09-01 | PMID 10995788
Halangk W, Lerch M M, Brandt-Nedelev B and 7 more
Genes: CTSB
Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
Journal of the National Cancer Institute | 2000-09-20 | PMID 10995807
Peel D J, Ziogas A, Fox E A and 5 more
Genes: MLH1, MSH2
Phenotypes of trpl mutants and interactions between the transient receptor potential (TRP) and TRP-like channels in Drosophila.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2000-09-15 | PMID 10995823
Leung H T, Geng C, Pak W L
Genes: ERG
Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2000-09-15 | PMID 10995834
Koike M, Nakanishi H, Saftig P and 13 more
Local permutations in the glomerular array of the mouse olfactory bulb.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2000-09-15 | PMID 10995837
Strotmann J, Conzelmann S, Beck A and 3 more
Deficit of striatal parvalbumin-reactive GABAergic interneurons and decreased basal ganglia output in a genetic rodent model of idiopathic paroxysmal dystonia.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2000-09-15 | PMID 10995851
Gernert M, Hamann M, Bennay M and 2 more
Heregulin regulates the actin cytoskeleton and promotes invasive properties in breast cancer cell lines.
International journal of oncology | 2000-10-01 | PMID 10995872
Hijazi M M, Thompson E W, Tang C and 5 more
Genes: HRG
Alterations of the PPP1R3 gene in hematological malignancies.
International journal of oncology | 2000-10-01 | PMID 10995882
Inoue K, Kohno T, Takakura S and 5 more
Mutation analysis of transforming growth factor beta type II receptor, Smad2, Smad3 and Smad4 in esophageal squamous cell carcinoma.
International journal of oncology | 2000-10-01 | PMID 10995883
Osawa H, Shitara Y, Shoji H and 4 more
Overexpression of p53 in prostate carcinoma is associated with improved overall survival but not predictive of response to radiotherapy.
International journal of oncology | 2000-10-01 | PMID 10995889
Incognito L S, Cazares L H, Schellhammer P F and 5 more
Instability at dinucleotide and trinucleotide repeats in breast cancer.
International journal of oncology | 2000-10-01 | PMID 10995897
Ottini L, Palli D, Falchetti M and 10 more
Mitochondrial genotype associated with longevity and its inhibitory effect on mutagenesis.
Mechanisms of ageing and development | 2000-07-31 | PMID 10996007
Tanaka M, Gong J, Zhang J and 3 more
Modulation of bone remodeling by active vitamin D: its role in the treatment of osteoporosis.
Mechanisms of ageing and development | 2000-07-31 | PMID 10996010
Ikeda K, Ogata E
Association of a Leu(10)-->Pro polymorphism of the transforming growth factor-beta1 with genetic susceptibility to osteoporosis and spinal osteoarthritis.
Mechanisms of ageing and development | 2000-07-31 | PMID 10996011
Yamada Y
The zebrafish forkhead transcription factor FoxH1/Fast1 is a modulator of nodal signaling required for organizer formation.
Current biology : CB | 2000-09-07 | PMID 10996071
Pogoda H M, Solnica-Krezel L, Driever W and 1 more
Somites in zebrafish doubly mutant for knypek and trilobite form without internal mesenchymal cells or compaction.
Current biology : CB | 2000-09-07 | PMID 10996075
Henry C A, Hall L A, Burr Hille M and 2 more
Inflammation is a component of neurodegeneration in response to Venezuelan equine encephalitis virus infection in mice.
Journal of neuroimmunology | 2000-09-22 | PMID 10996215
Schoneboom B A, Catlin K M, Marty A M and 1 more
Genes: TNF
Direction of the reactivity of vanillyl-alcohol oxidase with 4-alkylphenols.
FEBS letters | 2000-09-15 | PMID 10996306
van den Heuvel R H, Fraaije M W, van Berkel W J
Characterization of Solt, a novel SoxLZ/Sox6 binding protein expressed in adult mouse testis.
FEBS letters | 2000-09-15 | PMID 10996314
Yamashita A, Ito M, Takamatsu N and 1 more
Analysis of the domain requirement in Gas1 growth suppressing activity.
FEBS letters | 2000-09-15 | PMID 10996316
Ruaro M E, Stebel M, Vatta P and 2 more
Genes: GPI
Packaging of up to 240 subunits of a 17 kDa nuclease into the interior of recombinant hepatitis B virus capsids.
FEBS letters | 2000-09-15 | PMID 10996318
Beterams G, Böttcher B, Nassal M
Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.
FEBS letters | 2000-09-15 | PMID 10996323
Nakajima T, Kurabayashi M, Ohyama Y and 8 more
A common apolipoprotein B signal peptide polymorphism modifies the relation between plasma non-esterified fatty acids and triglyceride concentration in men.
Atherosclerosis | 2000-09-01 | PMID 10996334
Halsall D J, Martensz N D, Luan J and 4 more
Apolipoprotein E4 phenotype increases non-fasting serum triglyceride concentration in infants - the STRIP study.
Atherosclerosis | 2000-09-01 | PMID 10996348
Tammi A, Rönnemaa T, Viikari J and 4 more
C242T polymorphism of the p22 phox gene is not associated with peripheral arterial occlusive disease.
Atherosclerosis | 2000-09-01 | PMID 10996353
Renner W, Schallmoser K, Gallippi P and 4 more
Genes: CAD
DNA sequence variation in human apolipoprotein C4 gene and its effect on plasma lipid profile.
Atherosclerosis | 2000-09-01 | PMID 10996355
Kamboh M I, Aston C E, Hamman R F
Genes: APOC4
GSTM1 genotypes in elderly tumour-free smokers and non-smokers.
Lung cancer (Amsterdam, Netherlands) | 2000-09-01 | PMID 10996421
Belogubova E V, Togo A V, Kondratieva T V and 3 more
Genes: GSTM1
Striatal extracts promote the survival and phenotypic expression of rat fetal dopaminergic neurons in vitro.
Neuroscience letters | 2000-09-29 | PMID 10996436
Zhou J, Shen Y, Tang Z and 3 more
Genes: BDNF, GDNF
No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy.
Epilepsy research | 2000-11-01 | PMID 10996506
Haug K, Hallmann K, Horvath S and 8 more
Genes: KCNQ3, KCNQ2
Comparison of methods for detecting genotypes of F-specific RNA bacteriophages and fingerprinting the origin of faecal pollution in water samples.
Journal of virological methods | 2000-09-01 | PMID 10996634
Schaper M, Jofre J
Amplification with molecular beacon primers and reverse line blotting for the detection and typing of human papillomaviruses.
Journal of virological methods | 2000-09-01 | PMID 10996637
Jordens J Z, Lanham S, Pickett M A and 3 more
Genes: SDS
Distinct variation pattern in the env of macrophage-tropic simian immunodeficiency virus in vivo demonstrated by denaturing gradient gel electrophoresis.
Journal of virological methods | 2000-09-01 | PMID 10996639
Dhar S K, Tadakuma K, Mori K
Quantification of HIV-1 group M (subtypes A-G) and group O by the LCx HIV RNA quantitative assay.
Journal of virological methods | 2000-09-01 | PMID 10996643
Swanson P, Harris B J, Holzmayer V and 3 more
Acceleration of chromosomal instability by loss of BRCA1 expression and p53 abnormality in sporadic breast cancers.
Cancer letters | 2000-10-31 | PMID 10996734
Miyoshi Y, Iwao K, Takahashi Y and 2 more
Genes: BRCA1
Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families.
Neuromuscular disorders : NMD | 2000-10-01 | PMID 10996774
Ausems M G, ten Berg K, Beemer F A and 1 more
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
Neuromuscular disorders : NMD | 2000-10-01 | PMID 10996775
Abe M, Higuchi I, Morisaki H and 2 more
Genes: AMPD1
Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2).
Neuromuscular disorders : NMD | 2000-10-01 | PMID 10996776
Kress W, Mueller-Myhsok B, Ricker K and 5 more
Unique and shared functions of different connexins in mice.
Current biology : CB | 2000-09-21 | PMID 10996788
Plum A, Hallas G, Magin T and 10 more
Genetic suppression of phenotypes arising from mutations in dystrophin-related genes in Caenorhabditis elegans.
Current biology : CB | 2000-09-21 | PMID 10996789
Gieseler K, Grisoni K, Ségalat L
Genes: DMD
CHE-14, a protein with a sterol-sensing domain, is required for apical sorting in C. elegans ectodermal epithelial cells.
Current biology : CB | 2000-09-21 | PMID 10996790
Michaux G, Gansmuller A, Hindelang C and 1 more
Genes: NPC1
Non-equivalent roles of Drosophila Frizzled and Dfrizzled2 in embryonic wingless signal transduction.
Current biology : CB | 2000-09-21 | PMID 10996794
Moline M M, Dierick H A, Southern C and 1 more
The SCF ubiquitin ligase protein slimb regulates centrosome duplication in Drosophila.
Current biology : CB | 2000-09-21 | PMID 10996795
Wojcik E J, Glover D M, Hays T S
Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12.
Current biology : CB | 2000-09-21 | PMID 10996796
Takada S, Tevendale M, Baker J and 6 more
Type IV pilus of Myxococcus xanthus is a motility apparatus controlled by the frz chemosensory system.
Current biology : CB | 2000-09-21 | PMID 10996798
Sun H, Zusman D R, Shi W
Plant development: hidden networks.
Current biology : CB | 2000-09-21 | PMID 10996804
Berleth T
Disruption of the homeobox gene Hoxb-6 in mice results in increased numbers of early erythrocyte progenitors.
American journal of hematology | 2000-10-01 | PMID 10996827
Kappen C
Primary antiphospholipid antibody syndrome with mutations in the phospholipid binding domain of beta(2)-glycoprotein I.
American journal of hematology | 2000-10-01 | PMID 10996835
Gushiken F C, Arnett F C, Thiagarajan P
The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein.
Journal of cellular biochemistry | 2000-09-14 | PMID 10996847
Wendel B, Reinhard R, Wachtendorf U and 6 more
Genes: MYH7
Impairment of bile salt-dependent lipase secretion in human pancreatic tumoral SOJ-6 cells.
Journal of cellular biochemistry | 2000-09-14 | PMID 10996854
Caillol N, Pasqualini E, Lloubes R and 1 more
Genetic variation among populations of the Hessian fly Mayetiola destructor (Diptera: Cecidomyiidae) in Morocco and Syria.
Bulletin of entomological research | 2000-06-01 | PMID 10996865
Naber N, El Bouhssini M, Labhilili M and 6 more
[Apolipoprotein E gene polymorphism and risk of hypercholesterolemia: a case control study in a working population of Valencia].
Medicina clinica | 2000-07-01 | PMID 10996872
Corella D, Guillén M, Portolés O and 4 more
[Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population].
Medicina clinica | 2000-06-24 | PMID 10996881
Mayo Cabrero D, Hernández Cristóbal J, Cantarero Duque S and 5 more
[Benign familial neonatal convulsions: molecular pathology and diagnosis].
Der Nervenarzt | 2000-08-01 | PMID 10996911
Steinlein O K
Genes: KCNQ2, KCNQ3
[Cortical dysgenesis: current classification, MRI diagnosis, and clinical review].
Der Nervenarzt | 2000-08-01 | PMID 10996912
Hagemann G, Redecker C, Witte O W
SNP genotyping by combination of 192-well MADGE, ARMS and computerized gel image analysis.
BioTechniques | 2000-09-01 | PMID 10997263
O'Dell S D, Gaunt T R, Day I N
Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry.
BioTechniques | 2000-09-01 | PMID 10997276
Ross P, Hall L, Haff L A
The impact of genomics on therapeutic drug development.
EXS | 2000-01-01 | PMID 10997279
Kennedy G C
Strategies to delay the onset of Alzheimer's disease.
EXS | 2000-01-01 | PMID 10997291
Hüll M H, Fiebich B L, Lieb K
[Increased prevalence of APC-resistance (factor V Leiden mutation) in patients with postthrombotic syndrome].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete | 2000-08-01 | PMID 10997314
Gaber Y, Siemens H J, Schmeller W
Genes: APC
Alpha1-antitrypsin deficiency-associated liver disease progresses slowly in some children.
Journal of pediatric gastroenterology and nutrition | 2000-09-01 | PMID 10997369
Volpert D, Molleston J P, Perlmutter D H
Tipranavir inhibits broadly protease inhibitor-resistant HIV-1 clinical samples.
AIDS (London, England) | 2000-09-08 | PMID 10997398
Larder B A, Hertogs K, Bloor S and 5 more
Evidence for independent development of resistance to HIV-1 reverse transcriptase inhibitors in the cerebrospinal fluid.
AIDS (London, England) | 2000-09-08 | PMID 10997399
Cunningham P H, Smith D G, Satchell C and 2 more
Phenylalanine ammonia lyase production by gamma irradiated and analog-resistant mutants of Rhodotorula glutinis.
Acta microbiologica Polonica | 2000-01-01 | PMID 10997491
El-Batal A I, Abo-State M A, Shihab A
A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM).
The Tohoku journal of experimental medicine | 2000-07-01 | PMID 10997552
Daimon M, Susa S, Ohizumi T and 7 more
Durations and frequencies of free locomotion in wild type and GABAergic mutants of Caenorhabditis elegans.
Neuroscience research | 2000-09-01 | PMID 10997580
Shingai R
Activity of the hypothalamic-pituitary-adrenal axis in different obesity phenotypes.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity | 2000-06-01 | PMID 10997608
Pasquali R, Vicennati V
Methodological approaches to assess body-weight regulation and aetiology of obesity.
The Proceedings of the Nutrition Society | 2000-08-01 | PMID 10997656
Marti A, De Miguel C, Jebb S A and 6 more
Method-dependent influence of certain polymorphisms in the factor V B-domain on the response to activated protein C.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 2000-09-01 | PMID 10997791
Siegert G, Kostka H, Gehrisch S and 3 more
Genes: APC
Lack of association between the angiotensin-converting enzyme insertion/deletion polymorphism and plasminogen activator inhibitor-1 antigen levels in the National Heart, Lung, and Blood Institute Family Heart Study.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 2000-09-01 | PMID 10997795
Pankow J S, Arnett D K, Borecki I B and 4 more
Genes: ACE
An apparent interlocus gene conversion-like event at a putative tumor suppressor gene locus on human chromosome 6q27 in a Burkitt's lymphoma cell line.
DNA research : an international journal for rapid publication of reports on genes and genomes | 2000-08-31 | PMID 10997876
Hauptschein R S, Gaidano G, Rao P H and 4 more
Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.
American journal of physiology. Renal physiology | 2000-10-01 | PMID 10997928
Kamsteeg E J, Deen P M
Genes: AQP2
CD2AP is expressed with nephrin in developing podocytes and is found widely in mature kidney and elsewhere.
American journal of physiology. Renal physiology | 2000-10-01 | PMID 10997929
Li C, Ruotsalainen V, Tryggvason K and 2 more
Variant translocations in sporadic Burkitt's lymphoma detected in fresh tumour material: analysis of three cases.
British journal of haematology | 2000-09-01 | PMID 10997962
Cario G, Stadt U Z, Reiter A and 2 more
Genes: MYC
A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations.
British journal of haematology | 2000-09-01 | PMID 10997970
Coulthard S A, Rabello C, Robson J and 11 more
Genes: TPMT
Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease.
British journal of haematology | 2000-09-01 | PMID 10997984
Nurden P, Chretien F, Poujol C and 3 more
Genes: VWF
A case of purpura fulminans is caused by homozygous delta8857 mutation (protein C-nagoya) and successfully treated with activated protein C concentrate.
British journal of haematology | 2000-09-01 | PMID 10997987
Nakayama T, Matsushita T, Hidano H and 4 more
Genes: APC
Detection of Gov system antibodies by MAIPA reveals an immunogenicity similar to the HPA-5 alloantigens.
British journal of haematology | 2000-09-01 | PMID 10997989
Berry J E, Murphy C M, Smith G A and 7 more
Evidence for a role of HLA DRB1 alleles in the control of IgE levels, strengthened by interacting TCR A/D marker alleles.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology | 2000-10-01 | PMID 10998012
Mansur A H, Williams G A, Bishop D T and 4 more
New p53 mutations in hilar cholangiocarcinoma.
European journal of clinical investigation | 2000-09-01 | PMID 10998080
Tullo A, D'Erchia A M, Honda K and 4 more
Geographical differences within Finland in the frequency of HLA-DQ genotypes associated with type 1 diabetes susceptibility. The Childhood Diabetes in Finland Study Group.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 2000-08-01 | PMID 10998087
Ilonen J, Reijonen H, Green A and 4 more
Allele frequencies of polymorphisms of the tumour necrosis factor-alpha, interleukin-10, interferon-gamma and interleukin-2 genes in a North European Caucasoid group from the UK.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 2000-08-01 | PMID 10998089
Reynard M P, Turner D, Navarrete C V
Genes: TNF
Recovery of emotional behaviour in neural cell adhesion molecule (NCAM) null mutant mice through transgenic expression of NCAM180.
The European journal of neuroscience | 2000-09-01 | PMID 10998113
Stork O, Welzl H, Wolfer D and 7 more
The underwhite (uw) locus acts autonomously and reduces the production of melanin.
The Journal of investigative dermatology | 2000-10-01 | PMID 10998130
Lehman A L, Silvers W K, Puri N and 3 more
Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes.
The Journal of investigative dermatology | 2000-10-01 | PMID 10998131
Puri N, Gardner J M, Brilliant M H