Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia.
Neurology | 1997-10-01 | PMID 9339680
Geschwind D H, Perlman S, Grody W W and 4 more
Genes: GAA
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 905 of 10600
The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia.
Neurology | 1997-10-01 | PMID 9339681
Lorenzetti D, Bohlega S, Zoghbi H Y
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
Neurology | 1997-10-01 | PMID 9339683
Wagner S, Lerche H, Mitrovic N and 3 more
Human T-cell response to myelin basic protein peptide (83-99): extensive heterogeneity in antigen recognition, function, and phenotype.
Neurology | 1997-10-01 | PMID 9339699
Hemmer B, Vergelli M, Tranquill L and 4 more
De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy.
Neurology | 1997-10-01 | PMID 9339703
Biousse V, Brown M D, Newman N J and 4 more
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.
Neurology | 1997-10-01 | PMID 9339708
Gellera C, Pareyson D, Castellotti B and 4 more
Genes: GAA
Inhibition of lymphocyte blastogenic response in healthy donors treated with recombinant human granulocyte colony-stimulating factor (rhG-CSF): possible role of lactoferrin and interleukin-1 receptor antagonist.
Bone marrow transplantation | 1997-09-01 | PMID 9339749
Rutella S, Rumi C, Testa U and 5 more
Km genotyping using polymerase chain reaction-allele specific oligonucleotide in Koreans.
Molecules and cells | 1997-08-31 | PMID 9339890
Park K S, Nam J H, Kim M Y
Genetic variation of the apolipoprotein B gene in Korean patients with coronary artery disease.
Molecules and cells | 1997-08-31 | PMID 9339897
Hong S H, Lee C C, Kim J Q
Genes: CAD, INS
Molecular cloning and characterization of the Saccharomyces cerevisiae SAB1 gene that suppresses a temperature-sensitive phenotype of the ARS-binding factor 1 mutant.
Molecules and cells | 1997-08-31 | PMID 9339899
So I S, Rhode P R, Campbell J L and 1 more
Diversity among clinical isolates of Helicobacter pylori in Korea.
Molecules and cells | 1997-08-31 | PMID 9339901
Han J, Yu E, Lee I and 1 more
Molecular characterization of a nonsuppressible allele (prC4) of the Drosophila purple gene.
Molecules and cells | 1997-08-31 | PMID 9339902
Kim N, Kim J, Kim H and 2 more
[Genetic predisposition to Alzheimer's disease].
Revista de neurologia | 1997-08-01 | PMID 9340164
Staufenbiel M, Pombo-Villar E
[Characteristics of apolipoprotein polymorphism in a Hungarian population].
Orvosi hetilap | 1997-09-07 | PMID 9340574
Császár A
[Apolipoprotein E genotypes in patients investigated for dementia].
Ugeskrift for laeger | 1997-09-15 | PMID 9340872
Johannsen P, Jakobsen J K, Jørgensen A L
Genes: APOE
[The interaction of Escherichia coli, possessing the antilysozyme trait, with infusoria].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 9340992
Nemtseva N V
[The nonculturable state in pathogenic bacteria modelled on Salmonella typhimurium: the phenomenon and its genetic control].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 9340998
Romanova Iu M, Alekseeva N V, Gintsburg A L
[The ecological determinacy of the markers of staphylococcal persistence].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 9341003
Bukharin O V, Deriabin D G
[Reproducibility of aDNA typing].
Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur | 1997-06-01 | PMID 9341087
Schmerer W M, Hummel S, Herrmann B
[Determination of kinship by aDNA analysis].
Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur | 1997-06-01 | PMID 9341089
Hummel S, Herrmann B
A 13C nuclear magnetic resonance investigation of the metabolism of leucine to isoamyl alcohol in Saccharomyces cerevisiae.
The Journal of biological chemistry | 1997-10-24 | PMID 9341119
Dickinson J R, Lanterman M M, Danner D J and 4 more
Detection and characterization of Sp1 binding activity in human chondrocytes and its alterations during chondrocyte dedifferentiation.
The Journal of biological chemistry | 1997-10-24 | PMID 9341126
Dharmavaram R M, Liu G, Mowers S D and 1 more
Genes: CAT
Dantrolene inhibition of sarcoplasmic reticulum Ca2+ release by direct and specific action at skeletal muscle ryanodine receptors.
The Journal of biological chemistry | 1997-10-24 | PMID 9341133
Fruen B R, Mickelson J R, Louis C F
Diazaborine resistance in the yeast Saccharomyces cerevisiae reveals a link between YAP1 and the pleiotropic drug resistance genes PDR1 and PDR3.
The Journal of biological chemistry | 1997-10-24 | PMID 9341149
Wendler F, Bergler H, Prutej K and 4 more
Genes: YAP1
Transforming growth factor beta peptide antagonists and their conversion to partial agonists.
The Journal of biological chemistry | 1997-10-24 | PMID 9341157
Huang S S, Liu Q, Johnson F E and 2 more
Pathophysiology of the MELAS 3243 transition mutation.
The Journal of biological chemistry | 1997-10-24 | PMID 9341162
Flierl A, Reichmann H, Seibel P
Comparison of three members of the cysteine-rich protein family reveals functional conservation and divergent patterns of gene expression.
The Journal of biological chemistry | 1997-10-24 | PMID 9341203
Louis H A, Pino J D, Schmeichel K L and 2 more
Genes: CRP
Oldest-old healthy brain function. The genomic potential.
Archives of neurology | 1997-10-01 | PMID 9341566
Kaye J A
Genetic testing for Alzheimer disease. Practical and ethical issues.
Archives of neurology | 1997-10-01 | PMID 9341568
Roses A D
Amyotrophic lateral sclerosis. Insights from genetics.
Archives of neurology | 1997-10-01 | PMID 9341570
Brown R H
Lack of association of a polymorphism in the low-density lipoprotein receptor-related protein gene with Alzheimer disease.
Archives of neurology | 1997-10-01 | PMID 9341576
Clatworthy A E, Gomez-Isla T, Rebeck G W and 2 more
Allelic polymorphism and chromosomal localization of the human oviductin gene (MUC9).
Fertility and sterility | 1997-10-01 | PMID 9341614
Lapensée L, Paquette Y, Bleau G
Breast cancer: the high-risk mutations.
Hospital practice (1995) | 1997-10-15 | PMID 9341636
Brody L C, Biesecker B B
Mutations at the human minisatellite MS32 integrated in yeast occur with high frequency in meiosis and involve complex recombination events.
Molecular & general genetics : MGG | 1997-09-01 | PMID 9341674
Appelgren H, Cederberg H, Rannug U
Restriction enzyme-mediated DNA integration in Coprinus cinereus.
Molecular & general genetics : MGG | 1997-09-01 | PMID 9341676
Granado J D, Kertesz-Chaloupková K, Aebi M and 1 more
Overexpression of the protein kinase Pak1 suppresses yeast DNA polymerase mutations.
Molecular & general genetics : MGG | 1997-09-01 | PMID 9341678
Hovland P G, Tecklenberg M, Sclafani R A
Genes: PAK1
Single-step conjugative cloning of bacterial gene fusions involved in microbe-host interactions.
Molecular & general genetics : MGG | 1997-09-01 | PMID 9341682
Rainey P B, Heithoff D M, Mahan M J
Mitochondrial protein synthesis is not required for efficient excision of intron aI5 beta from COX1 pre-mRNA in Saccharomyces cerevisiae.
Molecular & general genetics : MGG | 1997-09-01 | PMID 9341683
Johnson C H, McEwen J E
Familial history of stroke and stroke risk. The Family Heart Study.
Stroke | 1997-10-01 | PMID 9341694
Liao D, Myers R, Hunt S and 5 more
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation.
Human genetics | 1997-10-01 | PMID 9341861
Milà M, Sànchez A, Badenas C and 5 more
Genes: FMR1
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.
Human genetics | 1997-10-01 | PMID 9341862
Tavassoli K, Eigel A, Pollmann H and 1 more
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.
Human genetics | 1997-10-01 | PMID 9341863
Mornet E, Muller F, Lenvoisé-Furet A and 4 more
Genes: MTHFR
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
Human genetics | 1997-10-01 | PMID 9341868
Jouanolle A M, Fergelot P, Gandon G and 3 more
Genes: HFE
High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis.
Human genetics | 1997-10-01 | PMID 9341871
Larsen L A, Grønskov K, Nørgaard-Pedersen B and 3 more
Genes: FMR1
Genetic variation of the 5-HT2A receptor gene and bipolar affective disorder.
Human genetics | 1997-10-01 | PMID 9341875
Gutiérrez B, Bertranpetit J, Collier D and 5 more
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.
Human genetics | 1997-10-01 | PMID 9341876
Battiloro E, Angeletti B, Tozzi M C and 5 more
Genes: SRY
A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.
Human genetics | 1997-10-01 | PMID 9341878
Kehrer-Sawatzki H, Schwickardt T, Assum G and 2 more
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.
Human genetics | 1997-10-01 | PMID 9341879
Walon C, Kartheuser A, Michils G and 5 more
Genes: FAP, APC
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.
Human genetics | 1997-10-01 | PMID 9341887
Puri N, Durbam-Pierre D, Aquaron R and 3 more
Genes: OCA2
Protein structure determination using a combination of comparative modeling and NMR spectroscopy. Application to the response regulator protein, Spo0F.
Journal of medicinal chemistry | 1997-10-10 | PMID 9341920
Podlogar B L, Leo G C, McDonnell P A and 3 more
Association of apolipoprotein allele epsilon 2 with psoriasis vulgaris in Japanese population.
Archives of dermatological research | 1997-08-01 | PMID 9341968
Furumoto H, Nakamura K, Imamura T and 4 more
Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype.
Clinical chemistry | 1997-10-01 | PMID 9342003
Huisman T H
Sensitive bioaffinity assays with individual microparticles and time-resolved fluorometry.
Clinical chemistry | 1997-10-01 | PMID 9342016
Lövgren T, Heinonen P, Lehtinen P and 9 more
ladybird, a new component of the cardiogenic pathway in Drosophila required for diversification of heart precursors.
Development (Cambridge, England) | 1997-09-01 | PMID 9342040
Jagla K, Frasch M, Jagla T and 3 more
The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning.
Development (Cambridge, England) | 1997-09-01 | PMID 9342041
Peichel C L, Prabhakaran B, Vogt T F
Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes.
Development (Cambridge, England) | 1997-09-01 | PMID 9342042
Hérault Y, Fraudeau N, Zákány J and 1 more
The Drosophila gene morula inhibits mitotic functions in the endo cell cycle and the mitotic cell cycle.
Development (Cambridge, England) | 1997-09-01 | PMID 9342047
Reed B H, Orr-Weaver T L
Imprinting of Igf2 and H19 from a 130 kb YAC transgene.
Development (Cambridge, England) | 1997-09-01 | PMID 9342054
Ainscough J F, Koide T, Tada M and 2 more
Ectopic expression of the Drosophila Bam protein eliminates oogenic germline stem cells.
Development (Cambridge, England) | 1997-09-01 | PMID 9342057
Ohlstein B, McKearin D
cut interacts with Notch and protein kinase A to regulate egg chamber formation and to maintain germline cyst integrity during Drosophila oogenesis.
Development (Cambridge, England) | 1997-09-01 | PMID 9342058
Jackson S M, Blochlinger K
Toxicity, efficacy, plasma drug concentrations and protease mutations in patients with advanced HIV infection treated with ritonavir plus saquinavir. Swiss HIV Cohort Study.
AIDS (London, England) | 1997-10-01 | PMID 9342060
Lorenzi P, Yerly S, Abderrakim K and 6 more
The influence of MT-2 tropism on the prognostic implications of the delta32 deletion in the CCR-5 gene.
AIDS (London, England) | 1997-10-01 | PMID 9342063
Bratt G, Sandström E, Albert J and 2 more
Increasing diversity of HIV-1M serotypes in French blood donors over a 10-year period (1985-1995). Retrovirus Study Group of the French Society of Blood Transfusion.
AIDS (London, England) | 1997-10-01 | PMID 9342073
Barin F, Courouce A M, Pillonel J and 1 more
Differential regulation of transcription of p21 and cyclin D1 conferred by TAF(II)250.
Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research | 1997-10-01 | PMID 9342188
Rushton J J, Steinman R A, Robbins P D
The tumor suppressor gene p53 can mediate transforming growth [corrected] factor beta1-induced differentiation of leukemic cells independently of activation of the retinoblastoma protein.
Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research | 1997-10-01 | PMID 9342191
Ehinger M, Bergh G, Johnsson E and 2 more
Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.
American journal of medical genetics | 1997-09-19 | PMID 9342192
Bespalova I N, Adkins S, Pranzatelli M and 1 more
Genetic association between monoamine oxidase and manic-depressive illness: comparison of relative risk and haplotype relative risk data.
American journal of medical genetics | 1997-09-19 | PMID 9342194
Parsian A, Todd R D
Human dopamine transporter gene polymorphism (VNTR) and alcoholism.
American journal of medical genetics | 1997-09-19 | PMID 9342195
Parsian A, Zhang Z H
Dopamine D4 receptor exon III alleles and variation of novelty seeking in alcoholics.
American journal of medical genetics | 1997-09-19 | PMID 9342196
Sander T, Harms H, Dufeu P and 3 more
Genes: DRD4
Ciliary neurotrophic factor null allele frequencies in schizophrenia, affective disorders, and Alzheimer's disease.
American journal of medical genetics | 1997-09-19 | PMID 9342199
Gelernter J, Van Dyck C, van Kammen D P and 6 more
Genes: CNTF
Association between dopamine D4 receptor (D4DR) exon III polymorphism and novelty seeking in Japanese subjects.
American journal of medical genetics | 1997-09-19 | PMID 9342200
Ono Y, Manki H, Yoshimura K and 6 more
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.
American journal of medical genetics | 1997-09-19 | PMID 9342203
Claeys I, Holvoet M, Eyskens B and 4 more
Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe.
American journal of medical genetics | 1997-09-19 | PMID 9342206
Leube B, Hendgen T, Kessler K R and 3 more
Palytoxin-induced channel formation within the Na+/K+-ATPase does not require a catalytically active enzyme.
European journal of biochemistry | 1997-09-15 | PMID 9342222
Scheiner-Bobis G, Schneider H
Relocation of Syk protein-tyrosine kinase to the actin filament network and subsequent association with Fak.
European journal of biochemistry | 1997-09-15 | PMID 9342235
Sada K, Minami Y, Yamamura H
The 70-kDa heat-shock protein/DnaK chaperone system is required for the productive folding of ribulose-biphosphate carboxylase subunits in Escherichia coli.
European journal of biochemistry | 1997-09-15 | PMID 9342238
Checa S K, Viale A M
Application of an expert system in the management of HIV-infected patients.
Journal of acquired immune deficiency syndromes and human retrovirology : official publication of the International Retrovirology Association | 1997-08-15 | PMID 9342255
Pazzani M J, See D, Schroeder E and 1 more
Prp43: An RNA helicase-like factor involved in spliceosome disassembly.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342317
Arenas J E, Abelson J N
The amino-terminal region of Tyk2 sustains the level of interferon alpha receptor 1, a component of the interferon alpha/beta receptor.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342324
Gauzzi M C, Barbieri G, Richter M F and 4 more
Genes: IFNAR1
Molding a peptide into an RNA site by in vivo peptide evolution.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342332
Harada K, Martin S S, Tan R and 1 more
Both N-terminal myosin-binding and C-terminal actin-binding sites on smooth muscle caldesmon are required for caldesmon-mediated inhibition of actin filament velocity.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342334
Wang Z, Jiang H, Yang Z Q and 1 more
Abnormalities of pancreatic islets by targeted expression of a dominant-negative KATP channel.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342346
Miki T, Tashiro F, Iwanaga T and 8 more
Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342358
Otterson G A, Chen W d, Coxon A B and 2 more
Selective induction of p53 and chemosensitivity in RB-deficient cells by E1A mutants unable to bind the RB-related proteins.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342368
Samuelson A V, Lowe S W
Gene-based approach to human gene-phenotype correlations.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342372
Dryja T P
Alternative genetic pathways in colorectal carcinogenesis.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342373
Olschwang S, Hamelin R, Laurent-Puig P and 7 more
Genes: APC
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342374
Kaplan M, Renbaum P, Levy-Lahad E and 3 more
HOP-1, a Caenorhabditis elegans presenilin, appears to be functionally redundant with SEL-12 presenilin and to facilitate LIN-12 and GLP-1 signaling.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342387
Li X, Greenwald I
Genetic control of abscisic acid biosynthesis in maize.
Proceedings of the National Academy of Sciences of the United States of America | 1997-10-28 | PMID 9342392
Tan B C, Schwartz S H, Zeevaart J A and 1 more
Rapid rate of control-region evolution in Pacific butterflyfishes (Chaetodontidae).
Journal of molecular evolution | 1997-11-01 | PMID 9342395
McMillan W O, Palumbi S R
Chromosomal reorganization during meiosis of Saccharomyces cerevisiae baker's yeasts.
Current genetics | 1997-10-01 | PMID 9342404
Codón A C, Benítez T, Korhola M
MSS11, a novel yeast gene involved in the regulation of starch metabolism.
Current genetics | 1997-10-01 | PMID 9342405
Webber A L, Lambrechts M G, Pretorius I S
Cloning and characterization of KlCOX18, a gene required for activity of cytochrome oxidase in Kluyveromyces lactis.
Current genetics | 1997-10-01 | PMID 9342406
Hikkel I, Gbelská Y, van der Aart Q J and 2 more
Evaluation of the efficiency of sexual reproduction in restoring Podospora anserina mitochondrial DNA to wild-type.
Current genetics | 1997-10-01 | PMID 9342408
Silliker M E, Monroe J A, Jorden M A
Epidemiology of nonmelanoma skin cancer.
Clinics in plastic surgery | 1997-10-01 | PMID 9342506
Strom S S, Yamamura Y
Insulin and the prevention of insulin-dependent diabetes mellitus.
Diabetes & metabolism | 1997-09-01 | PMID 9342539
Coutant R, Carel J C, Timsit J and 2 more
Influence of metabolic and genetic factors on tumour necrosis factor-alpha and lymphotoxin-alpha production in insulin-dependent diabetes mellitus.
Diabetes & metabolism | 1997-09-01 | PMID 9342542
Feugeas J P, Caillens H, Poirier J C and 3 more
Genes: TNF, LTA
Molecular genetics of craniosynostotic syndromes.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie | 1997-09-01 | PMID 9342602
Müller U, Steinberger D, Kunze S
Genes: FGFR1, FGFR2, FGFR3, MSX2
Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie | 1997-09-01 | PMID 9342608
Kremmer S, Eckstein A, Gal A and 4 more
Genes: ERG
Capillary electrophoresis of recombinant proteins.
Journal of chromatography. B, Biomedical sciences and applications | 1997-09-12 | PMID 9342661
Denton K A, Tate S A