A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
Annals of neurology | 1998-01-01 | PMID 9450773
Tiranti V, D'Agruma L, Pareyson D and 5 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 942 of 10600
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.
Annals of neurology | 1998-01-01 | PMID 9450775
Wisniewski K E, Zhong N, Kaczmarski W and 9 more
Genes: CLN3
Association between the gene encoding the E2 subunit of the alpha-ketoglutarate dehydrogenase complex and Parkinson's disease.
Annals of neurology | 1998-01-01 | PMID 9450778
Kobayashi T, Matsumine H, Matuda S and 1 more
Cytomegalovirus infection and schizencephaly: case reports.
Annals of neurology | 1998-01-01 | PMID 9450779
Iannetti P, Nigro G, Spalice A and 2 more
Genes: EMX2
Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).
Annals of neurology | 1998-01-01 | PMID 9450781
Nochlin D, Bird T D, Nemens E J and 2 more
Localization of the giant axonal neuropathy gene to chromosome 16q24.
Annals of neurology | 1998-01-01 | PMID 9450783
Flanigan K M, Crawford T O, Griffin J W and 5 more
Genes: GAN
Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.
British journal of haematology | 1998-01-01 | PMID 9450787
Negrier C, Vinciguerra C, Attali O and 3 more
Genes: GCA
Consequences of factor IX mutations in 26 families with haemophilia B.
British journal of haematology | 1998-01-01 | PMID 9450791
Weinmann A F, Murphy M E, Thompson A R
Beta-thalassaemia intermedia: is it possible consistently to predict phenotype from genotype?
British journal of haematology | 1998-01-01 | PMID 9450794
Ho P J, Hall G W, Luo L Y and 2 more
A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao).
British journal of haematology | 1998-01-01 | PMID 9450796
Garbarz M, Galand C, Bibas D and 5 more
Genes: SPTB
'Lymphoid' blast crisis of chronic myeloid leukaemia is associated with distinct clinicohaematological features.
British journal of haematology | 1998-01-01 | PMID 9450800
Cervantes F, Villamor N, Esteve J and 4 more
Adult biphenotypic acute leukaemia: an entity with poor prognosis which is related to unfavourable cytogenetics and P-glycoprotein over-expression.
British journal of haematology | 1998-01-01 | PMID 9450804
Legrand O, Perrot J Y, Simonin G and 7 more
Megakaryocyte progenitors derived from bone marrow or G-CSF-mobilized peripheral blood CD34 cells show a distinct phenotype and responsiveness to interleukin-3 (IL-3) and PEG-recombinant human megakaryocyte growth and development factor (PEG-rHuMGDF).
British journal of haematology | 1998-01-01 | PMID 9450813
Catani L, Gugliotta L, Campanini E and 6 more
A(1,2)BO(1,2) genotyping by multiplexed allele-specific PCR.
British journal of haematology | 1998-01-01 | PMID 9450817
Pearson S L, Hessner M J
Genes: ABO
Transmission of the FRAXA haplotype from three nonpenetrant brothers to their affected grandsons: an update with AGG interspersion analysis.
American journal of medical genetics | 1998-01-06 | PMID 9450853
Mogk R L, Carson N L, Chudley A E and 1 more
Genes: FMR1
Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review.
American journal of medical genetics | 1998-01-06 | PMID 9450856
Flejter W L, Issa B, Sullivan B A and 2 more
Is hereditary site-specific ovarian cancer a distinct genetic condition?
American journal of medical genetics | 1998-01-06 | PMID 9450858
Liede A, Tonin P N, Sun C C and 4 more
Genes: BRCA1, BRCA2
Familial dup(5)(q15q21) associated with normal and abnormal phenotypes.
American journal of medical genetics | 1998-01-06 | PMID 9450861
Li S Y, Gibson L H, Gomez K and 2 more
Testing for inherited susceptibility to breast cancer: a survey of informed consent forms for BRCA1 and BRCA2 mutation testing.
American journal of medical genetics | 1998-01-06 | PMID 9450863
Durfy S J, Buchanan T E, Burke W
Genes: BRCA1, BRCA2
Clinical phenotype of desmosterolosis.
American journal of medical genetics | 1998-01-13 | PMID 9450875
FitzPatrick D R, Keeling J W, Evans M J and 6 more
Incontinentia pigmenti in a newborn male infant with DNA confirmation.
American journal of medical genetics | 1998-01-13 | PMID 9450877
Roberts J L, Morrow B, Vega-Rich C and 2 more
Lack of linkage disequilibrium between transforming growth factor alpha Taq I polymorphism and cleft lip with or without cleft palate in families from Northeastern Italy.
American journal of medical genetics | 1998-01-13 | PMID 9450887
Scapoli L, Pezzetti F, Carinci F and 3 more
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Human mutation | 1998-01-01 | PMID 9450897
Waters P J, Parniak M A, Nowacki P and 1 more
Genes: PAH
Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.
Human mutation | 1998-01-01 | PMID 9450900
Lai K, Langley S D, Dembure P P and 2 more
Genes: GALT
Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.
Human mutation | 1998-01-01 | PMID 9450901
van Rensburg E J, Engelbrecht S, van Heerden W F and 2 more
Mutation analysis of interleukin-5 in an asthmatic cohort.
Human mutation | 1998-01-01 | PMID 9450903
Pereira E, Goldblatt J, Rye P and 2 more
A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
Human mutation | 1998-01-01 | PMID 9450904
Pousi B, Hautala T, Hyland J C and 4 more
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.
Human mutation | 1998-01-01 | PMID 9450905
Tanner S M, Laporte J, Guiraud-Chaumeil C and 1 more
Genes: MTM1
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.
Human mutation | 1998-01-01 | PMID 9450906
Gilad S, Khosravi R, Harnik R and 10 more
Genes: ATM
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
Human mutation | 1998-01-01 | PMID 9450907
Liu T T, Hsiao K J, Lu S F and 6 more
Detection of APC mutations in stool DNA of patients with colorectal cancer by HD-PCR.
Human mutation | 1998-01-01 | PMID 9450908
Deuter R, Müller O
Genes: APC
Mismatches for two major and one minor histocompatibility antigen correlate with a patient's rejection of a bone marrow graft from a serologically HLA-identical sibling.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation | 1997-11-01 | PMID 9450920
Lienert-Weidenbach K, Valiante N M, Brown C and 8 more
Inscuteable and numb mediate asymmetric muscle progenitor cell divisions during Drosophila myogenesis.
Genes & development | 1998-02-01 | PMID 9450926
Carmena A, Murugasu-Oei B, Menon D and 2 more
Evidence that Spt4, Spt5, and Spt6 control transcription elongation by RNA polymerase II in Saccharomyces cerevisiae.
Genes & development | 1998-02-01 | PMID 9450930
Hartzog G A, Wada T, Handa H and 1 more
Cdk7 is essential for mitosis and for in vivo Cdk-activating kinase activity.
Genes & development | 1998-02-01 | PMID 9450931
Larochelle S, Pandur J, Fisher R P and 2 more
S-phase-specific activation of Cds1 kinase defines a subpathway of the checkpoint response in Schizosaccharomyces pombe.
Genes & development | 1998-02-01 | PMID 9450932
Lindsay H D, Griffiths D J, Edwards R J and 5 more
Cooperative interactions between the central spindle and the contractile ring during Drosophila cytokinesis.
Genes & development | 1998-02-01 | PMID 9450933
Giansanti M G, Bonaccorsi S, Williams B and 4 more
Activation of shaker potassium channels. I. Characterization of voltage-dependent transitions.
The Journal of general physiology | 1998-02-01 | PMID 9450944
Schoppa N E, Sigworth F J
Activation of Shaker potassium channels. II. Kinetics of the V2 mutant channel.
The Journal of general physiology | 1998-02-01 | PMID 9450945
Schoppa N E, Sigworth F J
Activation of Shaker potassium channels. III. An activation gating model for wild-type and V2 mutant channels.
The Journal of general physiology | 1998-02-01 | PMID 9450946
Schoppa N E, Sigworth F J
The Win1 mitotic regulator is a component of the fission yeast stress-activated Sty1 MAPK pathway.
Molecular biology of the cell | 1998-02-01 | PMID 9450957
Shieh J C, Wilkinson M G, Millar J B
Inhibition of endosome fusion by wortmannin persists in the presence of activated Rab5.
Molecular biology of the cell | 1998-02-01 | PMID 9450958
Jones A T, Mills I G, Scheidig A J and 2 more
A specific light chain of kinesin associates with mitochondria in cultured cells.
Molecular biology of the cell | 1998-02-01 | PMID 9450959
Khodjakov A, Lizunova E M, Minin A A and 2 more
The integral membrane protein snl1p is genetically linked to yeast nuclear pore complex function.
Molecular biology of the cell | 1998-02-01 | PMID 9450961
Ho A K, Raczniak G A, Ives E B and 1 more
Essential role of tubulin-folding cofactor D in microtubule assembly and its association with microtubules in fission yeast.
The EMBO journal | 1998-02-02 | PMID 9450991
Hirata D, Masuda H, Eddison M and 1 more
Mode of interaction of the single a subunit with the multimeric c subunits during the translocation of the coupling ions by F1F0 ATPases.
The EMBO journal | 1998-02-02 | PMID 9450994
Kaim G, Matthey U, Dimroth P
A dominant interfering mutant of FADD/MORT1 enhances deletion of autoreactive thymocytes and inhibits proliferation of mature T lymphocytes.
The EMBO journal | 1998-02-02 | PMID 9450996
Newton K, Harris A W, Bath M L and 2 more
Genes: FADD, TRADD
A strain-independent postnatal neurodegeneration in mice lacking the EGF receptor.
The EMBO journal | 1998-02-02 | PMID 9450997
Sibilia M, Steinbach J P, Stingl L and 2 more
Genes: EGFR, EGF, GFAP
Different positioning of the ligand-binding domain helix 12 and the F domain of the estrogen receptor accounts for functional differences between agonists and antagonists.
The EMBO journal | 1998-02-02 | PMID 9451001
Nichols M, Rientjes J M, Stewart A F
Ribosome release factor RF4 and termination factor RF3 are involved in dissociation of peptidyl-tRNA from the ribosome.
The EMBO journal | 1998-02-02 | PMID 9451005
Heurgué-Hamard V, Karimi R, Mora L and 5 more
Protein translocation functions of Escherichia coli SecY: in vitro characterization of cold-sensitive secY mutants.
Biochimie | 1997-09-01 | PMID 9451453
Taura T, Yoshihisa T, Ito K
Regulation of protein synthesis by minigene expression.
Biochimie | 1997-09-01 | PMID 9451455
Hernández J, Ontiveros C, Valadez J G and 2 more
Virulence of Streptococcus suis type 2 for mice and pigs appeared host-specific.
Veterinary microbiology | 1997-10-31 | PMID 9451461
Vecht U, Stockhofe-Zurwieden N, Tetenburg B J and 2 more
Polypyrrole DNA chip on a silicon device: example of hepatitis C virus genotyping.
Analytical biochemistry | 1998-01-15 | PMID 9451503
Livache T, Fouque B, Roget A and 4 more
B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene.
Journal of autoimmunity | 1997-12-01 | PMID 9451590
Kasturi K N, Hatakeyama A, Murai C and 3 more
Genes: RAG2
Preference for IgG mAb binding insulin in solution or on surfaces is related to immunoglobulin variable region structures.
Journal of autoimmunity | 1997-12-01 | PMID 9451593
Tikhomirov O Y, Thomas J W
Apolipoprotein E epsilon 4 allele distribution in Wernicke-Korsakoff syndrome with or without global intellectual deficits.
Journal of neural transmission (Vienna, Austria : 1996) | 1997-01-01 | PMID 9451723
Muramatsu T, Kato M, Matsui T and 5 more
Homozygous thermolabile methylenetetrahydrofolate reductase in schizophrenia-like psychosis.
Journal of neural transmission (Vienna, Austria : 1996) | 1997-01-01 | PMID 9451725
Regland B, Germgård T, Gottfries C G and 2 more
Genes: MTHFR
[DNA-based prenatal diagnosis in epidermolysis bullosa].
Orvosi hetilap | 1998-01-11 | PMID 9451906
Cserhalmi-Friedman B P, Kárpáti S, Horváth A and 3 more
Genes: LAMB3
Cytological characterization of four meiotic mutants of Arabidopsis isolated from T-DNA-transformed lines.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology | 1997-12-01 | PMID 9451956
Ross K J, Fransz P, Armstrong S J and 4 more
Cyclooxygenase 2 RNA message abundance, stability, and hypervariability in sporadic Alzheimer neocortex.
Journal of neuroscience research | 1997-12-15 | PMID 9452008
Lukiw W J, Bazan N G
Immunocytochemical localization of AMPA receptors in the rat inferior colliculus.
Brain research | 1997-11-07 | PMID 9452206
Gaza W C, Ribak C E
Microgeographic genetic differentiation of Anopheles gambiae mosquitoes from Asembo Bay, western Kenya: a comparison with Kilifi in coastal Kenya.
The American journal of tropical medicine and hygiene | 1998-01-01 | PMID 9452294
Kamau L, Lehmann T, Hawley W A and 2 more
Intraspecific isozyme polymorphism of Anopheles gambiae in relation to environment, behavior, and malaria transmission in southwestern Burkina Faso.
The American journal of tropical medicine and hygiene | 1998-01-01 | PMID 9452295
Coosemans M, Smits A, Roelants P
9p21 deletions in primary melanoma.
Dermatology online journal | 1997-12-01 | PMID 9452367
Naylor M F, Brown S, Quinlan C and 2 more
A transmembrane form of the prion protein in neurodegenerative disease.
Science (New York, N.Y.) | 1998-02-06 | PMID 9452375
Hegde R S, Mastrianni J A, Scott M R and 6 more
Conjugative transfer by the virulence system of Legionella pneumophila.
Science (New York, N.Y.) | 1998-02-06 | PMID 9452389
Vogel J P, Andrews H L, Wong S K and 1 more
Meiotic synapsis in the absence of recombination.
Science (New York, N.Y.) | 1998-02-06 | PMID 9452390
McKim K S, Green-Marroquin B L, Sekelsky J J and 4 more
Genetic diversity of wild-type measles viruses: implications for global measles elimination programs.
Emerging infectious diseases | 2000-01-01 | PMID 9452396
Bellini W J, Rota P A
Diversity among multidrug-resistant enterococci.
Emerging infectious diseases | 2000-01-01 | PMID 9452397
Murray B E
A biochemical and genetic model for parasite resistance to antifolates. Toxoplasma gondii provides insights into pyrimethamine and cycloguanil resistance in Plasmodium falciparum.
The Journal of biological chemistry | 1998-02-06 | PMID 9452469
Reynolds M G, Roos D S
Heterogeneity in codon usage in the flatworm Schistosoma mansoni.
Journal of molecular evolution | 1998-02-01 | PMID 9452518
Musto H, Romero H, Rodríguez-Maseda H
Horizontal escape of the novel Tc1-like lepidopteran transposon TCp3.2 into Cydia pomonella granulovirus.
Journal of molecular evolution | 1998-02-01 | PMID 9452523
Jehle J A, Nickel A, Vlak J M and 1 more
Unusual and strongly structured sequence variation in a complex satellite DNA family from the nematode Meloidogyne chitwoodi.
Journal of molecular evolution | 1998-02-01 | PMID 9452524
Castagnone-Sereno P, Leroy H, Semblat J P and 3 more
The involvement of the two acidic patches of spinach plastocyanin in the reaction with photosystem I.
Biochimica et biophysica acta | 1997-12-15 | PMID 9452765
Young S, Sigfridsson K, Olesen K and 1 more
Pick's disease: selective occurrence of apolipoprotein E-immunoreactive Pick bodies in the limbic system.
Acta neuropathologica | 1998-01-01 | PMID 9452816
Hayashi S, Wakabayashi K, Iwanaga K and 8 more
Genes: APOE
Phenotypic changes in the regenerating rabbit bladder muscle. Role of interstitial cells and innervation on smooth muscle cell differentiation.
Histochemistry and cell biology | 1998-01-01 | PMID 9452953
Faggian L, Pampinella F, Roelofs M and 4 more
CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.
Kidney international | 1998-01-01 | PMID 9452997
Kelleher C L, Buckalew V M, Frederickson E D and 4 more
Genes: CLCN5
Promoter and intronic sequences of the human thiopurine S-methyltransferase (TPMT) gene isolated from a human PAC1 genomic library.
Pharmaceutical research | 1997-12-01 | PMID 9453052
Krynetski E Y, Fessing M Y, Yates C R and 3 more
Genes: TPMT
Virulence mechanisms of avian fimbriated Escherichia coli in experimentally inoculated chickens.
Veterinary microbiology | 1997-11-01 | PMID 9453131
Pourbakhsh S A, Boulianne M, Martineau-Doizé B and 1 more
Nucleotide sequence analysis of a 30-kilobase-pair region of human herpesvirus-6B (HHV-6B) genome and strain-specific variations in major immediate-early genes.
Virus research | 1997-11-01 | PMID 9453140
Kosuge H, Isegawa Y, Yamanishi K
Mapping of the mutations present in the genome of the Rift Valley fever virus attenuated MP12 strain and their putative role in attenuation.
Virus research | 1997-11-01 | PMID 9453143
Vialat P, Muller R, Vu T H and 2 more
Evidence for expressional crosstalk between the central virulence regulator PrfA and the stress response mediator ClpC in Listeria monocytogenes.
FEMS microbiology letters | 1998-01-01 | PMID 9453154
Ripio M T, Vázquez-Boland J A, Vega Y and 2 more
Partial loss of tolerance liability to morphine analgesia in mice lacking the nociceptin receptor gene.
Neuroscience letters | 1997-11-21 | PMID 9453234
Ueda H, Yamaguchi T, Tokuyama S and 3 more
First case of mother-to-infant HIV type 1 group O transmission and evolution of C2V3 sequences in the infected child. French HIV Pediatric Cohort Study Group.
AIDS research and human retroviruses | 1998-01-01 | PMID 9453247
Chaix-Baudier M L, Chappey C, Burgard M and 4 more
Molecular inhibition of HIV type 1 by HIV type 2: effectiveness in peripheral blood mononuclear cells.
AIDS research and human retroviruses | 1998-01-01 | PMID 9453252
Al-Harthi L, Owais M, Arya S K
Characterization of a molecular clone of HIV type 2 infectious for Macaca nemestrina.
AIDS research and human retroviruses | 1998-01-01 | PMID 9453253
Kraus G, Radaelli A, Talbott R and 7 more
Genes: CCR5, CXCR4
Genetics in the prediction of insulin-dependent diabetes mellitus: from theory to practice.
Annals of medicine | 1997-10-01 | PMID 9453285
Rønningen K S
Effect of renin gene transfer on blood pressure in the spontaneously hypertensive rat.
Hypertension (Dallas, Tex. : 1979) | 1998-01-01 | PMID 9453331
St Lezin E, Liu W, Wang N and 8 more
Modulation of blood pressure in the Dahl SS/jr rat by embryo transfer.
Hypertension (Dallas, Tex. : 1979) | 1998-01-01 | PMID 9453359
Kubisch H M, Mathialagan S, Gómez-Sánchez E P
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.
European journal of pediatrics | 1997-12-01 | PMID 9453376
Cohen L H, Vamos E, Heinrichs C and 7 more
Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome.
European journal of pediatrics | 1997-12-01 | PMID 9453381
Ismail E A, Abul Saad S, Sabry M A
Proapoptotic gene BAX is frequently mutated in hereditary nonpolyposis colorectal cancers but not in adenomas.
Gastroenterology | 1998-02-01 | PMID 9453486
Yagi O K, Akiyama Y, Nomizu T and 3 more
Genes: BAX
Apc1638N: a mouse model for familial adenomatous polyposis-associated desmoid tumors and cutaneous cysts.
Gastroenterology | 1998-02-01 | PMID 9453487
Smits R, van der Houven van Oordt W, Luz A and 5 more
Genes: FAP, APC
Genetic analysis of long-term Barrett's esophagus epithelial cultures exhibiting cytogenetic and ploidy abnormalities.
Gastroenterology | 1998-02-01 | PMID 9453489
Palanca-Wessels M C, Barrett M T, Galipeau P C and 3 more
Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis.
Gastroenterology | 1998-02-01 | PMID 9453491
George D K, Goldwurm S, MacDonald G A and 5 more
Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria.
Gastroenterology | 1998-02-01 | PMID 9453492
Adams P C, Chakrabarti S
Genes: HFE
CuZn-superoxide dismutase, extracellular superoxide dismutase, and glutathione peroxidase in blood from individuals homozygous for Asp90Ala CuZu-superoxide dismutase mutation.
Journal of neurochemistry | 1998-02-01 | PMID 9453566
Andersen P M, Nilsson P, Forsgren L and 1 more
Vaccine potential of attenuated mutants of Corynebacterium pseudotuberculosis in sheep.
Infection and immunity | 1998-02-01 | PMID 9453598
Simmons C P, Dunstan S J, Tachedjian M and 3 more
Intracellular multiplication and virulence of Shigella flexneri auxotrophic mutants.
Infection and immunity | 1998-02-01 | PMID 9453608
Cersini A, Salvia A M, Bernardini M L