Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness.
Journal of medical genetics | 2000-06-01 | PMID 10851252
Martin S N, Sutherland J, Levin A V and 3 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 1346 of 10600
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
Journal of medical genetics | 2000-06-01 | PMID 10851254
Sargent C A, Kidd A, Moore S and 3 more
Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant.
Molecular vision | 2000-06-02 | PMID 10851259
Steele E C, Wang J H, Lo W K and 3 more
Genes: CAT
TNF gene polymorphism and its relation to intracerebral production of TNFalpha and TNFbeta in AD.
Neurology | 2000-06-13 | PMID 10851366
Tarkowski E, Liljeroth A M, Nilsson A and 4 more
Genes: TNF
Is APOE--epsilon4 a risk factor for cognitive impairment in normal aging?
Neurology | 2000-06-13 | PMID 10851367
Small B J, Graves A B, McEvoy C L and 3 more
Genes: APOE
A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype.
Neurology | 2000-06-13 | PMID 10851377
Majtényi C, Brown P, Cervenáková L and 2 more
Genes: GSS, PRNP
Hippocampal sulcal cavities on MRI: relationship to age and apolipoprotein E genotype.
Neurology | 2000-06-13 | PMID 10851380
Barboriak D P, Doraiswamy P M, Krishnan K R and 3 more
Genes: APOE
Autosomal dominant partial epilepsy with auditory features: defining the phenotype.
Neurology | 2000-06-13 | PMID 10851389
Winawer M R, Ottman R, Hauser W A and 1 more
Necessity of biotherapeutic treatments inducing TH1 cell functions in colorectal cancer.
Cancer biotherapy & radiopharmaceuticals | 1996-12-01 | PMID 10851498
Contasta I, Pellegrini P, Berghella A M and 5 more
Genes: TNF
[The effect of protoplast formation on the antibiotic activity and composition of the actinomycin complex in a strain of Streptomyces galbus (F) subsp. achromogenes 695 and in its active variants].
Antibiotiki i khimioterapiia = Antibiotics and chemoterapy [sic] | 2000-01-01 | PMID 10851643
Iocheva L D, Antonova-Nikolova S K
[Screening for ovarian cancer].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke | 2000-05-10 | PMID 10851943
Bjørge T, Dørum A, Tropé C G
[Diagnosis of breast diseases with magnetic resonance tomography].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke | 2000-05-10 | PMID 10851944
Kvistad K A, Gribbestad I S, Haraldseth O and 1 more
[The seroresistance of enterobacteria isolated from different sources].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 10851979
Gritsenko V A, Brudastov Iu A, Zhurlov O S
Pharmacogenetic screening for susceptibility to fetal malformations in women.
The Annals of pharmacotherapy | 2000-05-01 | PMID 10852093
Van Dyke D C, Ellingrod V L, Berg M J and 3 more
Poor prognosis of depression in elderly people: causes and actions.
Annals of medicine | 2000-05-01 | PMID 10852141
Baldwin R C
Impact of transposable elements on the human genome.
Annals of medicine | 2000-05-01 | PMID 10852143
Deragon J M, Capy P
Interleukin 6 gene promoter polymorphism is not associated with ankylosing spondylitis.
The Journal of rheumatology | 2000-06-01 | PMID 10852271
Collado-Escobar M D, Nieto A, Matarán L and 2 more
Familial Mediterranean fever: high gene frequency and heterogeneous disease among an Israeli-Arab population.
The Journal of rheumatology | 2000-06-01 | PMID 10852276
Shinawi M, Brik R, Berant M and 2 more
Genes: MEFV
Association of HLA-DR7 with rheumatic fever in the Brazilian population.
The Journal of rheumatology | 2000-06-01 | PMID 10852281
Visentainer J E, Pereira F C, Dalalio M M and 3 more
Umbilical cord endothelial cells expressing large T antigen: comparison with primary cultures and effect of cell age.
In vitro cellular & developmental biology. Animal | 2000-04-01 | PMID 10852346
Fitzgerald U, Hettle S, MacDonald C and 1 more
Genes: ACE
Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).
Clinical genetics | 2000-05-01 | PMID 10852370
Lin Z, deMello D E, Batanian J R and 4 more
Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2.
Clinical genetics | 2000-05-01 | PMID 10852372
Phillips K A, Warner E, Meschino W S and 5 more
Genes: BRCA1, BRCA2
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
Clinical genetics | 2000-05-01 | PMID 10852373
Kleier S, Herrmann M, Wittwer B and 3 more
Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p.
Clinical genetics | 2000-05-01 | PMID 10852375
Chen J, Lindblom A
Genes: STK11
A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
Clinical genetics | 2000-05-01 | PMID 10852376
Karpati M, Peleg L, Gazit E and 2 more
Genes: HEXA
Mild phenotype in two siblings with distal monosomy 12p13.31-->pter.
Clinical genetics | 2000-05-01 | PMID 10852377
Glass I A, Trenholme A, Mildenhall L and 2 more
Different gene loci within the HLA-DR and TNF regions are independently associated with susceptibility and severity in Spanish rheumatoid arthritis patients.
Tissue antigens | 2000-04-01 | PMID 10852383
Hajeer A H, Dababneh A, Makki R F and 6 more
Genes: TNF
Tumor necrosis factor genomic polymorphism in Spanish IGA deficiency patients.
Tissue antigens | 2000-04-01 | PMID 10852388
De la Concha E G, Fernandez-Arquero M, Vigil P and 4 more
Genes: TNF
Sequence-based typing of HLA class II DQB1.
Tissue antigens | 2000-04-01 | PMID 10852389
Dinauer D M, Luhm R A, Uzgiris A J and 2 more
Seventeen more novel HLA-A locus alleles.
Tissue antigens | 2000-04-01 | PMID 10852390
Ellis J, Steiner N, Kosman C and 6 more
A novel HLA-B*40 allele and novel exon 1 sequences of two B*40 alleles identified in potential marrow donors.
Tissue antigens | 2000-04-01 | PMID 10852391
Gourley I S, Wu J, Bassinger S and 8 more
A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the alpha1 domain.
Tissue antigens | 2000-04-01 | PMID 10852392
Tamouza R, Sadki K, Schaeffer V and 7 more
Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes.
The Journal of clinical endocrinology and metabolism | 2000-06-01 | PMID 10852457
Jan de Beur S M, Ding C L, LaBuda M C and 2 more
Genes: PTH
Leucine 7 to proline 7 polymorphism in the neuropeptide Y gene is associated with enhanced carotid atherosclerosis in elderly patients with type 2 diabetes and control subjects.
The Journal of clinical endocrinology and metabolism | 2000-06-01 | PMID 10852461
Niskanen L, Karvonen M K, Valve R and 7 more
Genes: NPY
Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.
The Journal of clinical endocrinology and metabolism | 2000-06-01 | PMID 10852465
Schäffler A, Barth N, Winkler K and 5 more
Genes: SRY
The Aspergillus nidulans creC gene involved in carbon catabolite repression encodes a WD40 repeat protein.
Molecular & general genetics : MGG | 2000-05-01 | PMID 10852476
Todd R B, Lockington R A, Kelly J M
A novel secreted ribonuclease from Bacillus intermedius: gene structure and regulatory control.
Molecular & general genetics : MGG | 2000-05-01 | PMID 10852477
Hahnen E, Znamenskaya L, Koczan D and 2 more
Transformation of Arabidopsis with a Brassica SLG/SRK region and ARC1 gene is not sufficient to transfer the self-incompatibility phenotype.
Molecular & general genetics : MGG | 2000-05-01 | PMID 10852487
Bi Y M, Brugière N, Cui Y and 2 more
The Drosophila dominant wing mutation Dichaete results from ectopic expression of a Sox-domain gene.
Molecular & general genetics : MGG | 2000-05-01 | PMID 10852492
Russell S
Tagging of genes involved in multidrug resistance in Aspergillus nidulans.
Molecular & general genetics : MGG | 2000-05-01 | PMID 10852493
de Souza C C, Goldman M H, Goldman G H
Differential complementation of a Neurospora crassa Galpha(i) mutation using mammalian Galpha protein genes.
Molecular & general genetics : MGG | 2000-05-01 | PMID 10852494
Yang Q, Bieszke J A, Borkovich K A
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Annals of neurology | 2000-06-01 | PMID 10852545
Nishino I, Spinazzola A, Papadimitriou A and 22 more
Inhibiting protein-protein interactions: a model for antagonist design.
Biochemistry | 2000-06-20 | PMID 10852706
Chrunyk B A, Rosner M H, Cong Y and 3 more
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA.
Biochemistry | 2000-06-20 | PMID 10852707
Ballestar E, Yusufzai T M, Wolffe A P
Thermodynamic characterization of mutants of human fibroblast growth factor 1 with an increased physiological half-life.
Biochemistry | 2000-06-20 | PMID 10852713
Culajay J F, Blaber S I, Khurana A and 1 more
A single substitution of the insulin receptor kinase inhibits serine autophosphorylation in vitro: evidence for an interaction between the C-terminus and the activation loop.
Biochemistry | 2000-06-20 | PMID 10852715
Noelle V, Tennagels N, Klein H W
Genes: MAX
Cysteine 981 of the human insulin receptor is required for covalent cross-linking between beta-subunit and a thiol-reactive membrane-associated protein.
Biochemistry | 2000-06-20 | PMID 10852716
Garant M J, Maksimova E, Montrose-Rafizadeh C and 3 more
Yeast ribosomal protein L24 affects the kinetics of protein synthesis and ribosomal protein L39 improves translational accuracy, while mutants lacking both remain viable.
Biochemistry | 2000-06-20 | PMID 10852723
Dresios J, Derkatch I L, Liebman S W and 1 more
Mutational evidence of transition state stabilization by serine 88 in Escherichia coli type I signal peptidase.
Biochemistry | 2000-06-20 | PMID 10852727
Carlos J L, Klenotic P A, Paetzel M and 2 more
Calcium-sensitive interaction between calmodulin and modified forms of rat brain neurogranin/RC3.
Biochemistry | 2000-06-20 | PMID 10852729
Huang K P, Huang F L, Li J and 2 more
Intersubunit association induces unique allosteric dependence of the T127L CRP mutant on pH.
Biochemistry | 2000-06-20 | PMID 10852730
Shi Y, Wang S, Schwarz F P
Genes: CRP
15N isotope effects in glutamine hydrolysis catalyzed by carbamyl phosphate synthetase: evidence for a tetrahedral intermediate in the mechanism.
Biochemistry | 2000-06-20 | PMID 10852731
Rishavy M A, Cleland W W, Lusty C J
Role of an interdomain Gly-Gly sequence at the regulatory-substrate domain interface in the regulation of Escherichia coli. D-3-phosphoglycerate dehydrogenase.
Biochemistry | 2000-06-20 | PMID 10852732
Grant G A, Xu X L, Hu Z
A parental history of asthma is a risk factor for wheezing and nonwheezing respiratory illnesses in infants younger than 18 months of age.
American journal of respiratory and critical care medicine | 2000-06-01 | PMID 10852749
Bosken C H, Hunt W C, Lambert W E and 1 more
Independent inheritance of serum immunoglobulin E concentrations and airway responsiveness.
American journal of respiratory and critical care medicine | 2000-06-01 | PMID 10852754
Palmer L J, Burton P R, Faux J A and 3 more
Nerve growth factor-induced phenotypic switch in guinea pig airway sensory neurons.
American journal of respiratory and critical care medicine | 2000-06-01 | PMID 10852778
Hunter D D, Myers A C, Undem B J
Genes: NGF
Fission yeast Rng3p: an UCS-domain protein that mediates myosin II assembly during cytokinesis.
Journal of cell science | 2000-07-01 | PMID 10852821
Wong K C, Naqvi N I, Iino Y and 2 more
Misdirected vimentin messenger RNA alters cell morphology and motility.
Journal of cell science | 2000-07-01 | PMID 10852822
Morris E J, Evason K, Wiand C and 2 more
XCS-1, a maternally expressed gene product involved in regulating mitosis in Xenopus.
Journal of cell science | 2000-07-01 | PMID 10852828
Nakamura H, Wu C, Kuang J and 2 more
Dopamine function in Lesch-Nyhan disease.
Environmental health perspectives | 2000-06-01 | PMID 10852837
Nyhan W L
Genetic antagonism and hypermutability in Mycobacterium smegmatis.
Journal of bacteriology | 2000-06-01 | PMID 10852861
Karunakaran P, Davies J
Hyperrecombination in Streptococcus pneumoniae depends on an atypical mutY homologue.
Journal of bacteriology | 2000-06-01 | PMID 10852864
Samrakandi M M, Pasta F
A mutation in secY that causes enhanced SecA insertion and impaired late functions in protein translocation.
Journal of bacteriology | 2000-06-01 | PMID 10852867
Matsumoto G, Homma T, Mori H and 1 more
Identification and characterization of two chemotactic transducers for inorganic phosphate in Pseudomonas aeruginosa.
Journal of bacteriology | 2000-06-01 | PMID 10852870
Wu H, Kato J, Kuroda A and 3 more
Vibrio vulnificus has the transmembrane transcription activator ToxRS stimulating the expression of the hemolysin gene vvhA.
Journal of bacteriology | 2000-06-01 | PMID 10852871
Lee S E, Shin S H, Kim S Y and 8 more
Genetic and phenotypic analyses of the rdx locus of Rhodobacter sphaeroides 2.4.1.
Journal of bacteriology | 2000-06-01 | PMID 10852880
Roh J H, Kaplan S
Virulence of the phytopathogen Pseudomonas syringae pv. maculicola is rpoN dependent.
Journal of bacteriology | 2000-06-01 | PMID 10852883
Hendrickson E L, Guevera P, Peñaloza-Vàzquez A and 3 more
The alternative sigma factor RpoN is required for hrp activity in Pseudomonas syringae pv. maculicola and acts at the level of hrpL transcription.
Journal of bacteriology | 2000-06-01 | PMID 10852884
Hendrickson E L, Guevera P, Ausubel F M
The dual-specificity protein phosphatase Yvh1p regulates sporulation, growth, and glycogen accumulation independently of catalytic activity in Saccharomyces cerevisiae via the cyclic AMP-dependent protein kinase cascade.
Journal of bacteriology | 2000-06-01 | PMID 10852885
Beeser A E, Cooper T G
Isolation and characterization of nonchemotactic CheZ mutants of Escherichia coli.
Journal of bacteriology | 2000-06-01 | PMID 10852888
Boesch K C, Silversmith R E, Bourret R B
Characterization of devH, a gene encoding a putative DNA binding protein required for heterocyst function in Anabaena sp. strain PCC 7120.
Journal of bacteriology | 2000-06-01 | PMID 10852891
Hebbar P B, Curtis S E
Megaplasmid pRme2011a of Sinorhizobium meliloti is not required for viability.
Journal of bacteriology | 2000-06-01 | PMID 10852892
Oresnik I J, Liu S L, Yost C K and 1 more
Defective heparan sulfate biosynthesis and neonatal lethality in mice lacking N-deacetylase/N-sulfotransferase-1.
The Journal of biological chemistry | 2000-08-25 | PMID 10852901
Ringvall M, Ledin J, Holmborn K and 6 more
Regulation of the liver fatty acid-binding protein gene by hepatocyte nuclear factor 1alpha (HNF1alpha). Alterations in fatty acid homeostasis in HNF1alpha-deficient mice.
The Journal of biological chemistry | 2000-09-01 | PMID 10852923
Akiyama T E, Ward J M, Gonzalez F J
Molecular determinants by which a long chain toxin from snake venom interacts with the neuronal alpha 7-nicotinic acetylcholine receptor.
The Journal of biological chemistry | 2000-09-22 | PMID 10852927
Antil-Delbeke S, Gaillard C, Tamiya T and 4 more
Sterol methyltransferase 1 controls the level of cholesterol in plants.
The Plant cell | 2000-06-01 | PMID 10852933
Diener A C, Li H, Zhou W and 3 more
leafy hull sterile1 is a homeotic mutation in a rice MADS box gene affecting rice flower development.
The Plant cell | 2000-06-01 | PMID 10852934
Jeon J S, Jang S, Lee S and 8 more
Repression of shoot growth, a bZIP transcriptional activator, regulates cell elongation by controlling the level of gibberellins.
The Plant cell | 2000-06-01 | PMID 10852936
Fukazawa J, Sakai T, Ishida S and 3 more
Systematic identification of mutations that constitutively activate the angiotensin II type 1A receptor by screening a randomly mutated cDNA library with an original pharmacological bioassay.
Proceedings of the National Academy of Sciences of the United States of America | 2000-06-20 | PMID 10852946
Parnot C, Bardin S, Miserey-Lenkei S and 3 more
A M(r) 34,000 proinflammatory outer membrane protein (oipA) of Helicobacter pylori.
Proceedings of the National Academy of Sciences of the United States of America | 2000-06-20 | PMID 10852959
Yamaoka Y, Kwon D H, Graham D Y
Unarmed, tumor-specific monoclonal antibody effectively treats brain tumors.
Proceedings of the National Academy of Sciences of the United States of America | 2000-06-20 | PMID 10852962
Sampson J H, Crotty L E, Lee S and 9 more
Genes: EGFR
The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B.
Proceedings of the National Academy of Sciences of the United States of America | 2000-06-20 | PMID 10852966
Sylla B S, Murphy K, Cahir-McFarland E and 3 more
Precise gene localization by phenotypic assay of radiation hybrid cells.
Proceedings of the National Academy of Sciences of the United States of America | 2000-06-20 | PMID 10852967
Rasko J E, Battini J L, Kruglyak L and 2 more
Changes in the Th1 or Th2 cytokine dominance in the synovium of rheumatoid arthritis (RA): a kinetic study of the Th subsets in one unusual RA patient.
Rheumatology (Oxford, England) | 2000-05-01 | PMID 10852982
Aarvak T, Chabaud M, Thoen J and 2 more
Genes: CCR3, CCR5
Geographic clustering of an outer surface protein A mutant of Borrelia burgdorferi. Possible implications of multiple variants for Lyme disease persistence.
Rheumatology (Oxford, England) | 2000-05-01 | PMID 10852986
Malawista S E, Montgomery R R, Wang X M and 2 more
Relation between food habits and p53 mutational spectrum in gastric cancer patients.
International journal of oncology | 2000-07-01 | PMID 10853029
Fedriga R, Calistri D, Nanni O and 3 more
Alteration of tumor phenotypes of B16 melanoma after genetic remodeling of the ganglioside profile.
International journal of oncology | 2000-07-01 | PMID 10853034
Tsurifune T, Ito T, Li X J and 5 more
[Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis].
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia | 2000-01-01 | PMID 10853193
Pérez-Oller L, Torra R, Badenas C and 2 more
Genes: PKD2, PKD1
[Prevalence of genetic prothrombotic factors (factor V Leiden and II20210 prothrombin mutation) in glomerular nephropathies with or without thrombosis].
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia | 2000-01-01 | PMID 10853194
Martínez Ara J, Gómez Rioja R, Riñón C and 3 more
A closer look at the insertion within helix 54 of the 23S-rRNA of the genus Corynebacterium (and related taxa).
Clinical laboratory | 2000-01-01 | PMID 10853233
Hügle B, Weizenegger M, Hengstler K and 2 more
[Molecular analysis of pathogens of upper respiratory tract infections in children--a study of nasopharyngeal S. pneumoniae and PBP genes in acute otitis media].
Nihon Jibiinkoka Gakkai kaiho | 2000-05-01 | PMID 10853344
Shimada J, Hotomi M, Kuki K and 3 more
[Papillomavirus infection in healthy women from St.Petersburg].
Voprosy onkologii | 2000-01-01 | PMID 10853416
Aleksandrova Iu N, Lyshchëv A A, Safronnikova N R and 3 more
[Epidermal growth factor receptors and their ligands in endometrial carcinoma: correlation with clinico-morphologic factors and steroid receptors].
Voprosy onkologii | 2000-01-01 | PMID 10853417
Gershtein E S, Bocharova L B, Ermilova V D and 2 more
Genes: EGFR, EGF
Biological basis of radiation sensitivity. Part 2: Cellular and molecular determinants of radiosensitivity.
Oncology (Williston Park, N.Y.) | 2000-05-01 | PMID 10853463
Rosen E M, Fan S, Goldberg I D and 1 more
Genes: ATM, BRCA1, BRCA2
[Hereditary neuropathies].
La Revue du praticien | 2000-04-01 | PMID 10853553
Maisonobe T
Male killing can select for male mate choice: a novel solution to the paradox of the lek.
Proceedings. Biological sciences | 2000-05-07 | PMID 10853728
Randerson J P, Jiggins F M, Hurst L D
Using presence-absence data to establish reserve selection procedures that are robust to temporal species turnover.
Proceedings. Biological sciences | 2000-05-07 | PMID 10853732
Rodrigues A S, Gaston K J, Gregory R D
Fragmentation of sea bass populations in the western and eastern Mediterranean as revealed by microsatellite polymorphism.
Proceedings. Biological sciences | 2000-05-07 | PMID 10853737
Bahri-Sfar L, Lemaire C, Ben Hassine O K and 1 more
Female barn owls (Tyto alba) advertise good genes.
Proceedings. Biological sciences | 2000-05-07 | PMID 10853738
Roulin A, Jungi T W, Pfister H and 1 more
A screen of yeast respiratory mutants for sensitivity against the mycotoxin citrinin identifies the vacuolar ATPase as an essential factor for the toxicity mechanism.
Current genetics | 2000-05-01 | PMID 10853763
Ammar H, Michaelis G, Lisowsky T