Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
Clinical genetics | 2000-11-01 | PMID 11140841
Bissar-Tadmouri N, Parman Y, Boutrand L and 4 more
Genes: PMP22, MPZ
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 1463 of 10600
Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children.
Clinical genetics | 2000-11-01 | PMID 11140842
Morava E, Czakó M, Melegh B and 1 more
Malaria blood-stage infection and its control by the immune system.
Folia biologica | 2000-01-01 | PMID 11140853
Perlmann P, Troye-Blomberg M
Genes: TNF
Genetic analysis of cardiovascular risk factor clustering in spontaneous hypertension.
Folia biologica | 2000-01-01 | PMID 11140856
Pravenec M, Zídek V, Landa V and 7 more
The influence of the genetic background on the interaction of retinoic acid with Lx mutation of the rat.
Folia biologica | 2000-01-01 | PMID 11140860
Bíla V, Kren V, Liska F
MDM2 expression in areca quid chewing-associated oral squamous cell carcinomas in Taiwan.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology | 2001-01-01 | PMID 11140901
Huang J S, Ho T J, Chiang C P and 3 more
Genes: MDM2
Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.
Human genetics | 2000-11-01 | PMID 11140941
Arimura T, Nakamura T, Hiroi S and 10 more
Complex adaptive systems and human health: the influence of common genotypes of the apolipoprotein E (ApoE) gene polymorphism and age on the relational order within a field of lipid metabolism traits.
Human genetics | 2000-11-01 | PMID 11140944
Zerba K E, Ferrell R E, Sing C F
High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC).
Human genetics | 2000-11-01 | PMID 11140946
Wolford J K, Blunt D, Ballecer C and 1 more
Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools.
Human genetics | 2000-11-01 | PMID 11140947
Hoogendoorn B, Norton N, Kirov G and 8 more
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
Human genetics | 2000-11-01 | PMID 11140949
Tyson J, Tranebjaerg L, McEntagart M and 10 more
Genes: KCNQ1
Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.
Human genetics | 2000-11-01 | PMID 11140951
Winterer G, Smolka M, Samochowiec J and 8 more
Genes: GABRG2, GABRB2
Human variant glucose-6-phosphate transporter is active in microsomal transport.
Human genetics | 2000-11-01 | PMID 11140953
Lin B, Pan C J, Chou J Y
Anxiety and sensitivity to ethanol and pentobarbital in alcohol withdrawal seizure-prone and withdrawal seizure-resistant mice.
Alcoholism, clinical and experimental research | 2000-12-01 | PMID 11141031
Atkins A L, Rustay N R, Crabbe J C
Altered amygdalar CRF release and increased anxiety-like behavior in Sardinian alcohol-preferring rats: a microdialysis and behavioral study.
Alcoholism, clinical and experimental research | 2000-12-01 | PMID 11141034
Richter R M, Zorrilla E P, Basso A M and 2 more
A characterization of approach and avoidance learning in high-alcohol-drinking (HAD) and low-alcohol-drinking (LAD) rats.
Alcoholism, clinical and experimental research | 2000-12-01 | PMID 11141036
Blankenship M R, Finn P R, Steinmetz J E
Genes: LAD1
Environmental transmission of DSM-IV substance use disdorders in adoptive and step families.
Alcoholism, clinical and experimental research | 2000-12-01 | PMID 11141037
Newlin D B, Miles D R, van den Bree M B and 2 more
Competence of Arabidopsis thaliana genotypes and mutants for Agrobacterium tumefaciens-mediated gene transfer: role of phytohormones.
Journal of experimental botany | 2000-12-01 | PMID 11141170
Chateau S, Sangwan R S, Sangwan-Norreel B S
Phenotypic responses of wild barley to experimentally imposed water stress.
Journal of experimental botany | 2000-12-01 | PMID 11141176
Ivandic V, Hackett C A, Zhang Z J and 4 more
Differential response of soybean (Glycine max (L.) Merr.) genotypes to lipo-chito-oligosaccharide Nod Bj V (C(18:1) MeFuc).
Journal of experimental botany | 2000-12-01 | PMID 11141178
Prithiviraj B, Souleimanov A, Zhou X and 1 more
Nucleotide sequence variation at two genes of the phenylpropanoid pathway, the FAH1 and F3H genes, in Arabidopsis thaliana.
Molecular biology and evolution | 2001-01-01 | PMID 11141187
Aguadé M
Prenatal transmission of subtype C HIV-1 in Zimbabwe: HIV-1 RNA and DNA in maternal and cord blood.
Journal of acquired immune deficiency syndromes (1999) | 2000-12-15 | PMID 11141238
Guevara H, Johnston E, Zijenah L and 6 more
Mutation takes no vacation: can structured treatment interruptions increase the risk of drug-resistant HIV-1?
Journal of acquired immune deficiency syndromes (1999) | 2000-12-15 | PMID 11141239
Dorman K S, Kaplan A H, Lange K and 1 more
Retention and changes of soy isoflavones and carotenoids in immature soybean seeds (Edamame) during processing.
Journal of agricultural and food chemistry | 2000-12-01 | PMID 11141271
Simonne A H, Smith M, Weaver D B and 3 more
Delta 32 mutation of the chemokine-receptor 5 gene in inflammatory bowel disease.
Clinical immunology (Orlando, Fla.) | 2001-01-01 | PMID 11141322
Martin K, Heinzlmann M, Borchers R and 3 more
Genes: CCR5
Phenotypic and functional characteristics of BM-derived DC from NOD and non-diabetes-prone strains.
Clinical immunology (Orlando, Fla.) | 2001-01-01 | PMID 11141336
Feili-Hariri M, Morel P A
Anti-CD40 Treatment of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-exposed C57Bl/6 mice induces activation of antigen presenting cells yet fails to overcome TCDD-induced suppression of allograft immunity.
Toxicology and applied pharmacology | 2001-01-01 | PMID 11141351
Shepherd D M, Steppan L B, Hedstrom O R and 1 more
Genes: APC
[Distribution of the A(TA)7TAA genotype associated with Gilbert syndrome in the Spanish population].
Medicina clinica | 2000-10-28 | PMID 11141380
Fernández Salazar J M, Remacha Sevilla A, del Río Conde E and 1 more
[Mutational analysis of p53 in T-cell lymphoblastic leukemia].
Medicina clinica | 2000-11-04 | PMID 11141391
Nomdedéu J F, Badell I, Estivill C and 3 more
[Phenotypical manifestations of cystinuria: a study of 20 families in the Community of Valencia].
Medicina clinica | 2000-11-11 | PMID 11141402
Guillén M, Corella D, Luisa Cabello M and 2 more
Molecular and clinical differences between adenocarcinomas of the esophagus and of the gastric cardia.
The American journal of pathology | 2001-01-01 | PMID 11141476
Tanière P, Martel-Planche G, Maurici D and 5 more
Genes: MDM2
Size-dependent in vivo growth potential of adult rat hepatocytes.
The American journal of pathology | 2001-01-01 | PMID 11141483
Katayama S, Tateno C, Asahara T and 1 more
Remodeling of the vessel wall after copper-induced injury is highly attenuated in mice with a total deficiency of plasminogen activator inhibitor-1.
The American journal of pathology | 2001-01-01 | PMID 11141484
Ploplis V A, Cornelissen I, Sandoval-Cooper M J and 3 more
Role of granulocyte/macrophage colony-stimulating factor in zymocel-induced hepatic granuloma formation.
The American journal of pathology | 2001-01-01 | PMID 11141486
Wynn A A, Miyakawa K, Miyata E and 3 more
Cerebral malaria in mice: interleukin-2 treatment induces accumulation of gammadelta T cells in the brain and alters resistant mice to susceptible-like phenotype.
The American journal of pathology | 2001-01-01 | PMID 11141489
Haque A, Echchannaoui H, Seguin R and 3 more
Role of macrophage scavenger receptors in response to Listeria monocytogenes infection in mice.
The American journal of pathology | 2001-01-01 | PMID 11141491
Ishiguro T, Naito M, Yamamoto T and 5 more
Biochemical characterization of a neuroserpin variant associated with hereditary dementia.
The American journal of pathology | 2001-01-01 | PMID 11141496
Yazaki M, Liepnieks J J, Murrell J R and 6 more
Genes: AGT
Endothelial nitric oxide synthase gene-deficient mice demonstrate marked retardation in postnatal bone formation, reduced bone volume, and defects in osteoblast maturation and activity.
The American journal of pathology | 2001-01-01 | PMID 11141498
Aguirre J, Buttery L, O'Shaughnessy M and 6 more
Independent influence of strain difference and mi transcription factor on the expression of mouse mast cell chymases.
The American journal of pathology | 2001-01-01 | PMID 11141502
Ge Y, Jippo T, Lee Y M and 2 more
Genes: MITF
Brain regional quantification of F-ring and D-/E-ring isoprostanes and neuroprostanes in Alzheimer's disease.
The American journal of pathology | 2001-01-01 | PMID 11141503
Reich E E, Markesbery W R, Roberts L J and 3 more
Biallelic inactivation of retinoic acid receptor beta2 gene by epigenetic change in breast cancer.
The American journal of pathology | 2001-01-01 | PMID 11141504
Yang Q, Mori I, Shan L and 9 more
Evidence that furin is an authentic transforming growth factor-beta1-converting enzyme.
The American journal of pathology | 2001-01-01 | PMID 11141505
Dubois C M, Blanchette F, Laprise M H and 3 more
Use of visual evoked-potential studies and EEG data to classify aggressive, explosive behavior of youths.
Psychiatric services (Washington, D.C.) | 2001-01-01 | PMID 11141533
Bars D R, Heyrend F L, Simpson C D and 1 more
Broad-spectrum mildew resistance in Arabidopsis thaliana mediated by RPW8.
Science (New York, N.Y.) | 2001-01-05 | PMID 11141561
Xiao S, Ellwood S, Calis O and 4 more
Chromosomal effects of rapid gene evolution in Drosophila melanogaster.
Science (New York, N.Y.) | 2001-01-05 | PMID 11141564
Nurminsky D, Aguiar D D, Bustamante C D and 1 more
Guidance of cell migration by EGF receptor signaling during Drosophila oogenesis.
Science (New York, N.Y.) | 2001-01-05 | PMID 11141565
Duchek P, Rørth P
Genes: EGFR, EGF
Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender.
Molecular vision | 2000-12-31 | PMID 11141572
Schmidt S, Saunders A M, De La Paz MA and 10 more
Genes: APOE
Neuro-ophthalmology of mitochondrial diseases.
Current opinion in ophthalmology | 2000-12-01 | PMID 11141634
Riordan-Eva P
Neuro-ophthalmology of the phacomatoses.
Current opinion in ophthalmology | 2000-12-01 | PMID 11141635
Kerrison J B
More good than harm: a randomised controlled trial of the effect of education about familial risk of diabetes on psychological outcomes.
The British journal of general practice : the journal of the Royal College of General Practitioners | 2000-11-01 | PMID 11141871
Pierce M, Ridout D, Harding D and 2 more
[Celiac disease today: review of the growing knowledge].
Orvosi hetilap | 2000-11-26 | PMID 11141956
Juhász M, Zágoni T, Tóth M and 1 more
Pest control by the introduction of a conditional lethal trait on multiple loci: potential, limitations, and optimal strategies.
Journal of economic entomology | 2000-12-01 | PMID 11142282
Schliekelman P, Gould F
Pest control by the release of insects carrying a female-killing allele on multiple loci.
Journal of economic entomology | 2000-12-01 | PMID 11142283
Schliekelman P, Gould F
Insecticide resistance and dominance levels.
Journal of economic entomology | 2000-12-01 | PMID 11142285
Bourguet D, Genissel A, Raymond M
Inheritance of resistance to Acarapis woodi (Acari: Tarsonemidae) in first-generation crosses of honey bees (Hymenoptera: Apidae).
Journal of economic entomology | 2000-12-01 | PMID 11142287
Danka R G, Villa J D
Application of a modified selection index for honey bees (Hymenoptera: Apidae).
Journal of economic entomology | 2000-12-01 | PMID 11142288
van Engelsdorp D, Otis G W
Comparison of AC electronic monitoring and field data for estimating tolerance to Empoasca kraemeri (Homoptera: Cicadellidae) in common bean genotypes.
Journal of economic entomology | 2000-12-01 | PMID 11142315
Serrano M S, Backus E A, Cardona C
Exploring the limits of bacterial identification by intact cell-mass spectrometry.
Journal of the American Society for Mass Spectrometry | 2001-01-01 | PMID 11142360
Evason D J, Claydon M A, Gordon D B
The ribosomal binding and peptidyl-tRNA hydrolysis functions of Escherichia coli release factor 2 are linked through residue 246.
RNA (New York, N.Y.) | 2000-12-01 | PMID 11142371
Wilson D N, Guévremont D, Tate W P
Phase variation of F165(1) (Prs-like) fimbriae from Escherichia coli causing septicaemia in animals.
Canadian journal of microbiology | 2000-12-01 | PMID 11142399
Harel J, Daigle F, Forget C and 3 more
Genes: GATC
Assessing and analysing contamination of a dairy products processing plant by Staphylococcus aureus using antibiotic resistance and PFGE.
Canadian journal of microbiology | 2000-12-01 | PMID 11142400
Tondo E C, Guimarães M C, Henriques J A and 1 more
Genetic polymorphisms in three subtilisin-like protease isoforms (Pr1A, Pr1B, and Pr1C) from Metarhizium strains.
Canadian journal of microbiology | 2000-12-01 | PMID 11142404
Bidochka M J, Melzer M J
The glutathione S-transferase-mu and -theta genotypes in the etiology of prostate cancer: genotype-environment interactions with smoking.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-12-01 | PMID 11142418
Kelada S N, Kardia S L, Walker A H and 3 more
Genes: GSTT1, GSTM1
Steroid metabolism gene CYP17 polymorphism and the development of breast cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-12-01 | PMID 11142420
Mitrunen K, Jourenkova N, Kataja V and 6 more
Catechol-O-methyltransferase polymorphism is not associated with ovarian cancer risk.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-12-01 | PMID 11142424
Goodman J E, Lavigne J A, Hengstler J G and 3 more
Genes: COMT, GSTM1, GSTT1
Predictors of participation in genetic research in a primary care physician network.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-12-01 | PMID 11142425
Helmes A W, Bowen D J, Bowden R and 1 more
Acute myeloid leukemia and lung cancer occurring in a chronic lymphocytic leukemia patient treated with fludarabine and autologous peripheral blood stem-cell transplantation.
Annals of oncology : official journal of the European Society for Medical Oncology | 2000-11-01 | PMID 11142491
Meloni G, Proia A, Guerrisi V and 7 more
Association study of proposed candidate genes/regions in a population of Spanish asthmatics.
European journal of epidemiology | 2000-01-01 | PMID 11142503
Soriano J B, de Cid R, Estivill X and 10 more
Virulence genotypes and serotypes of verotoxigenic Escherichia coli isolated from cattle and foods in Argentina. Importance in public health.
European journal of epidemiology | 2000-01-01 | PMID 11142505
Parma A E, Sanz M E, Blanco J E and 5 more
Prospects for nutritional interventions in the clinical management of Fanconi anemia.
Cancer causes & control : CCC | 2000-12-01 | PMID 11142522
Pagano G, Korkina L G
Interferon versus steroids in patients with hepatitis C virus-associated cryoglobulinaemic glomerulonephritis.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver | 2000-11-01 | PMID 11142582
Mazzaro C, Panarello G, Carniello S and 9 more
Phenotypic HIV-1 resistance correlates with treatment outcome of nelfinavir salvage therapy.
Antiviral therapy | 2000-12-01 | PMID 11142619
Walter H, Schmidt B, Rascu A and 7 more
Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome.
Genetic testing | 2000-01-01 | PMID 11142752
Tzountzouris J, Kennedy D, Skuterud M and 7 more
Genes: FMR1
Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.
Genetic testing | 2000-01-01 | PMID 11142755
Sueoka H, Nagao M, Chiba S
Genes: PAH
Case-specific, breakpoint-spanning DNA probes for analysis of single interphase cells.
Genetic testing | 2000-01-01 | PMID 11142758
Lersch R A, Fung J, Munné S and 2 more
The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.
Genetic testing | 2000-01-01 | PMID 11142761
Geva E, Yaron Y, Shomrat R and 6 more
Genes: FMR1
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Genetic testing | 2000-01-01 | PMID 11142762
Erlandson A, Stibler H, Kristiansson B and 2 more
Genes: PMM2
Lack of association of ACE/angiotensinogen genotype with renal function in autosomal dominant polycystic kidney disease.
Genetic testing | 2000-01-01 | PMID 11142763
Saggar-Malik A K, Afzal A R, Swissman J S and 5 more
Genes: ACE
Automated, PCR-RFLP genotyping of the urokinase gene.
Genetic testing | 2000-01-01 | PMID 11142764
Sell S M, Blasi F, Booyse F
Genes: CAD
Ethnic differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in healthy Israeli populations.
Genetic testing | 2000-01-01 | PMID 11142765
Pollak R D, Friedlander Y, Pollak A and 3 more
Genes: MTHFR
Genetic analyses of male breast cancer in Israel.
Genetic testing | 2000-01-01 | PMID 11142766
Sverdlov R S, Barshack I, Bar Sade R B and 6 more
Genes: BRCA2, BRCA1
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.
Archives of dermatological research | 2000-10-01 | PMID 11142768
Murata T, Masunaga T, Shimizu H and 4 more
[Molecular biology characteristics of Helicobacter pylori].
Orvosi hetilap | 2000-11-19 | PMID 11143286
Ruzsovics A, Molnár B, Tulassay Z
[From gene to disease; hereditary pancreatitis].
Nederlands tijdschrift voor geneeskunde | 2000-11-25 | PMID 11143296
Drenth J P, Jansen J B
[Diagnostic image (13). Erythropoietic protoporphyria].
Nederlands tijdschrift voor geneeskunde | 2000-11-25 | PMID 11143297
Krekels G A, Neumann H A
[Incidence of cancer in individuals with Down syndrome].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke | 2000-10-10 | PMID 11143409
Hasle H, Clemmensen I H, Mikkelsen M
[Liver histology in hepatitis C: correlation with different biochemical and virological parameters].
Medizinische Klinik (Munich, Germany : 1983) | 2000-11-15 | PMID 11143539
Lock G, Knöll A, Hauer S and 5 more
Designing targeted libraries with genetic algorithms.
Journal of molecular graphics & modelling | 2000-01-01 | PMID 11143552
Sheridan R P, SanFeliciano S G, Kearsley S K
Variation of candidate genes in triglyceride metabolism.
Journal of cardiovascular risk | 2000-10-01 | PMID 11143760
Busch C P, Hegele R A
Genes: APOC3, LPL, LMNA
[Mutations causing puberty disturbances in girls].
Ginekologia polska | 2000-10-01 | PMID 11143938
Jakowicki J A
ACE and alpha-adducin genotypes and renal disease progression.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2000-01-01 | PMID 11143997
Zoccali C
Genes: ACE
Variations in call and morphology in male water frogs: taxonomic and evolutionary implications.
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie | 2000-11-01 | PMID 11144032
Lodé T, Pagano A
Light quantity controls leaf-cell and chloroplast development in Arabidopsis thaliana wild type and blue-light-perception mutants.
Planta | 2000-11-01 | PMID 11144265
Weston E, Thorogood K, Vinti G and 1 more
Phloem transport of amino acids in two Brassica napus L. genotypes and one B. carinata genotype in relation to their seed protein content.
Planta | 2000-11-01 | PMID 11144268
Lohaus G, Moellers C
Transgenic Arabidopsis plants can accumulate polyhydroxybutyrate to up to 4% of their fresh weight.
Planta | 2000-11-01 | PMID 11144269
Bohmert K, Balbo I, Kopka J and 6 more
Epigenetic mechanisms of character origination.
The Journal of experimental zoology | 2000-12-15 | PMID 11144279
Newman S A, Müller G B
High-resolution HLA class I typing in the CEPH families: analysis of linkage disequilibrium among HLA loci.
Tissue antigens | 2000-11-01 | PMID 11144287
Bugawan T L, Klitz W, Blair A and 1 more
HLA genes in Mexican Mazatecans, the peopling of the Americas and the uniqueness of Amerindians.
Tissue antigens | 2000-11-01 | PMID 11144288
Arnaiz-Villena A, Vargas-Alarcón G, Granados J and 8 more
HLA class I polymorphism, as characterised by PCR-SSOP, in a Brazilian exogamic population.
Tissue antigens | 2000-11-01 | PMID 11144289
Braun-Prado K, Vieira Mion A L, Farah Pereira N and 2 more
Soluble HLA-DR antigen levels in serum correlate with rheumatoid arthritis disease activity and the presence of disease-associated epitopes.
Tissue antigens | 2000-11-01 | PMID 11144291
Verbruggen L A, Dumarey N, Van de Velde H and 5 more
Genes: CRP