Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
Human genetics | 1998-01-01 | PMID 9490294
Nasonkin I, Illing M, Koehler M R 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.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 953 of 10600
Polymorphism of the HLA class II loci in Siberian populations.
Human genetics | 1998-01-01 | PMID 9490295
Grahovac B, Sukernik R I, O'hUigin C and 8 more
Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia.
Human genetics | 1998-01-01 | PMID 9490296
Leren T P, Bakken K S, Hoel V and 2 more
Genes: SDS
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
Human genetics | 1998-01-01 | PMID 9490297
Regis S, Filocamo M, Stroppiano M and 3 more
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.
Human genetics | 1998-01-01 | PMID 9490298
Storm K, Handig I, Reyniers E and 3 more
Genes: FMR1
Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional status.
Human genetics | 1998-01-01 | PMID 9490300
Yeshaya J, Shalgi R, Shohat M and 1 more
Genes: FMR1
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.
Human genetics | 1998-01-01 | PMID 9490302
Vervoort R, Gitzelmann R, Bosshard N and 3 more
Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.
Human genetics | 1998-01-01 | PMID 9490303
Votruba M, Moore A T, Bhattacharya S S
Genes: OPA1
Absence of human placental lactogen and placental growth hormone (HGH-V) during pregnancy: PCR analysis of the deletion.
Human genetics | 1998-01-01 | PMID 9490304
Rygaard K, Revol A, Esquivel-Escobedo D and 2 more
[Prognostic implication of iris phenotype in ischemic heart disease].
Klinicheskaia meditsina | 1997-01-01 | PMID 9490354
Klemenov A V
Evidence for evolutionary conservation of sex-determining genes.
Nature | 1998-02-12 | PMID 9490411
Raymond C S, Shamu C E, Shen M M and 4 more
Location of enhancers is essential for the imprinting of H19 and Igf2 genes.
Nature | 1998-02-12 | PMID 9490417
Webber A L, Ingram R S, Levorse J M and 1 more
[The genome structure and phenotypic characteristics of murine hybridoma 1F7 cells selected in the presence of adriamycin and ethidium bromide].
Tsitologiia | 1997-01-01 | PMID 9490514
Meliksemian M B, Berezkina E V, Pavlenko M A and 2 more
[The HLA phenotype and duodenal ulcers in patients following kidney transplantation].
Vestnik khirurgii imeni I. I. Grekova | 1997-01-01 | PMID 9490528
Potashov L V, Morozov V P, Bubnova L N and 4 more
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.
American journal of human genetics | 1998-01-01 | PMID 9490575
Estivill X, Govea N, Barceló E and 7 more
Mutations in the bimC box of Cut7 indicate divergence of regulation within the bimC family of kinesin related proteins.
Journal of cell science | 1998-04-01 | PMID 9490630
Drummond D R, Hagan I M
The Tomaj mutant alleles of alpha Tubulin67C reveal a requirement for the encoded maternal specific tubulin isoform in the sperm aster, the cleavage spindle apparatus and neurogenesis during embryonic development in Drosophila.
Journal of cell science | 1998-04-01 | PMID 9490633
Mathe E, Boros I, Josvay K and 4 more
A NIMA homologue promotes chromatin condensation in fission yeast.
Journal of cell science | 1998-04-01 | PMID 9490640
Krien M J, Bugg S J, Palatsides M and 3 more
L-CAM expression induces fibroblast-epidermoid transition in squamous carcinoma cells and down-regulates the endogenous N-cadherin.
Journal of cell science | 1998-04-01 | PMID 9490644
Li Z, Gallin W J, Lauzon G and 1 more
Analysis of CD44 interactions with hyaluronan in murine L cell fibroblasts deficient in glycosaminoglycan synthesis: a role for chondroitin sulfate.
Journal of cell science | 1998-04-01 | PMID 9490645
Esford L E, Maiti A, Bader S A and 2 more
Phenotypic distribution of T cells in human nasal mucosa differs from that in the gut.
American journal of respiratory cell and molecular biology | 1998-03-01 | PMID 9490657
Jahnsen F L, Farstad I N, Aanesen J P and 1 more
A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level.
Blood | 1998-03-15 | PMID 9490684
Kanaji T, Okamura T, Osaki K and 4 more
Haplotype HLA-B8-DR3 confers susceptibility to hepatitis C virus-related mixed cryoglobulinemia.
Blood | 1998-03-15 | PMID 9490691
Lenzi M, Frisoni M, Mantovani V and 6 more
Three molecular structures cause rhesus D category VI phenotypes with distinct immunohematologic features.
Blood | 1998-03-15 | PMID 9490704
Wagner F F, Gassner C, Muller T H and 3 more
Genes: RHD
Delayed onset of hemolytic anemia in CBA-Pk-1slc/Pk-1slc mice with a point mutation of the gene encoding red blood cell type pyruvate kinase.
Blood | 1998-03-15 | PMID 9490705
Tsujino K, Kanno H, Hashimoto K and 7 more
Distribution of transferrin saturations in the African-American population.
Blood | 1998-03-15 | PMID 9490706
Gordeuk V R, McLaren C E, Looker A C and 2 more
Cytotoxic T-lymphocyte-defined human minor histocompatibility antigens with a restricted tissue distribution.
Blood | 1998-03-15 | PMID 9490709
Warren E H, Greenberg P D, Riddell S R
A dominant mutant of inner centromere protein (INCENP), a chromosomal protein, disrupts prometaphase congression and cytokinesis.
The Journal of cell biology | 1998-03-09 | PMID 9490714
Mackay A M, Ainsztein A M, Eckley D M and 1 more
Genes: INCENP
The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils.
The Journal of cell biology | 1998-03-09 | PMID 9490728
Kielty C M, Raghunath M, Siracusa L D and 4 more
The Arabidopsis RGA gene encodes a transcriptional regulator repressing the gibberellin signal transduction pathway.
The Plant cell | 1998-02-01 | PMID 9490740
Silverstone A L, Ciampaglio C N, Sun T
Chimeric proteins between cry1 and cry2 Arabidopsis blue light photoreceptors indicate overlapping functions and varying protein stability.
The Plant cell | 1998-02-01 | PMID 9490743
Ahmad M, Jarillo J A, Cashmore A R
Genes: CRY1, CRY2
An Arabidopsis brassinosteroid-dependent mutant is blocked in cell elongation.
The Plant cell | 1998-02-01 | PMID 9490745
Azpiroz R, Wu Y, LoCascio J C and 1 more
The DWF4 gene of Arabidopsis encodes a cytochrome P450 that mediates multiple 22alpha-hydroxylation steps in brassinosteroid biosynthesis.
The Plant cell | 1998-02-01 | PMID 9490746
Choe S, Dilkes B P, Fujioka S and 3 more
Etioplast differentiation in arabidopsis: both PORA and PORB restore the prolamellar body and photoactive protochlorophyllide-F655 to the cop1 photomorphogenic mutant.
The Plant cell | 1998-02-01 | PMID 9490750
Sperling U, Franck F, van Cleve B and 3 more
Genes: POR
Alpha-tubulin missense mutations correlate with antimicrotubule drug resistance in Eleusine indica.
The Plant cell | 1998-02-01 | PMID 9490751
Yamamoto E, Zeng L, Baird W V
Light promotion of hypocotyl gravitropism of a starch-deficient tobacco mutant correlates with plastid enlargement and sedimentation.
Plant physiology | 1998-02-01 | PMID 9490754
Vitha S, Yang M, Kiss J Z and 1 more
Myotonic dystrophy: molecular windows on a complex etiology.
Nucleic acids research | 1998-03-15 | PMID 9490778
Korade-Mirnics Z, Babitzke P, Hoffman E
Genes: DMPK
Mutational analysis of the RNA pseudoknot involved in efficient ribosomal frameshifting in simian retrovirus-1.
Nucleic acids research | 1998-03-15 | PMID 9490779
Sung D, Kang H
DNA binding and oligomerization of NtrC studied by fluorescence anisotropy and fluorescence correlation spectroscopy.
Nucleic acids research | 1998-03-15 | PMID 9490780
Sevenich F W, Langowski J, Weiss V and 1 more
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations.
Nucleic acids research | 1998-03-15 | PMID 9490783
Liu W, Smith D I, Rechtzigel K J and 2 more
Genes: PTEN, RET, CFTR
NF-kappaB mediated transcriptional activation is enhanced by the architectural factor HMGI-C.
Nucleic acids research | 1998-03-15 | PMID 9490789
Mantovani F, Covaceuszach S, Rustighi A and 4 more
Direct amplification of length polymorphisms (DALP), or how to get and characterize new genetic markers in many species.
Nucleic acids research | 1998-03-15 | PMID 9490792
Desmarais E, Lanneluc I, Lagnel J
Directed termination PCR: a one-step approach to mutation detection.
Nucleic acids research | 1998-03-15 | PMID 9490805
Chen J, Hebert P D
Detection of mutations in GC-rich DNA by bisulphite denaturing gradient gel electrophoresis.
Nucleic acids research | 1998-03-15 | PMID 9490806
Guldberg P, Grønbak K, Aggerholm A and 5 more
Internal Mg2+ block of recombinant NMDA channels mutated within the selectivity filter and expressed in Xenopus oocytes.
The Journal of physiology | 1998-02-15 | PMID 9490808
Kupper J, Ascher P, Neyton J
Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.
The Journal of physiology | 1998-02-15 | PMID 9490812
Lewis T M, Sivilotti L G, Colquhoun D and 3 more
Regulation of mammalian Shaker-related K+ channels: evidence for non-conducting closed and non-conducting inactivated states.
The Journal of physiology | 1998-01-15 | PMID 9490854
Jäger H, Rauer H, Nguyen A N and 3 more
BSE: can we predict the future?
Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie | 1997-01-01 | PMID 9490927
Plum J
Screening of larval/pupal P-element induced lethals on the second chromosome in Drosophila melanogaster: clonal analysis and morphology of imaginal discs.
Molecular & general genetics : MGG | 1998-01-01 | PMID 9491068
Roch F, Serras F, Cifuentes F J and 9 more
Viviparous-5 encodes phytoene desaturase, an enzyme essential for abscisic acid (ABA) accumulation and seed development in maize.
Molecular & general genetics : MGG | 1998-01-01 | PMID 9491075
Hable W E, Oishi K K, Schumaker K S
Low-copy-number molecules are produced by recombination, actively maintained and can be amplified in the mitochondrial genome of Brassicaceae: relationship to reversion of the male sterile phenotype in some cybrids.
Molecular & general genetics : MGG | 1998-01-01 | PMID 9491076
Bellaoui M, Martin-Canadell A, Pelletier G and 1 more
A new LexA-based genetic system for monitoring and analyzing protein heterodimerization in Escherichia coli.
Molecular & general genetics : MGG | 1998-01-01 | PMID 9491079
Dmitrova M, Younès-Cauet G, Oertel-Buchheit P and 3 more
Phenylalanine- and tyrosine-auxotrophic mutants of Saccharomyces cerevisiae impaired in transamination.
Molecular & general genetics : MGG | 1998-01-01 | PMID 9491082
Urrestarazu A, Vissers S, Iraqui I and 1 more
Prognostic significance of accumulation of gene and chromosome alterations and histological grade in node-negative breast carcinoma.
Japanese journal of clinical oncology | 1998-01-01 | PMID 9491134
Tsuda H, Sakamaki C, Tsugane S and 2 more
Frequency of MNSs blood groups in south eastern Nigeria.
East African medical journal | 1997-07-01 | PMID 9491180
Udoh E A, Usanga E A, Emeribe A O
Genes: ABO
Hashimoto thyroiditis is associated with defects of cytochrome-c oxidase in oxyphil Askanazy cells and with the common deletion (4,977) of mitochondrial DNA.
Ultrastructural pathology | 2000-01-01 | PMID 9491221
Müller-Höcker J, Jacob U, Seibel P
Factor V Leiden in Greek thrombophilic patients: relationship with activated protein C resistance test and levels of thrombin-antithrombin complex and prothrombin fragment 1 + 2.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1997-11-01 | PMID 9491265
Lambropoulos A F, Foka Z, Makris M and 3 more
Genes: APC, TAT
Use of first nucleotide change technology to determine the frequency of factor V Leiden in a population of Australian blood donors.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1997-11-01 | PMID 9491266
Pecheniuk N M, Marsh N A, Walsh T P and 1 more
Bleeding predictors in factor-XI-deficient patients.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1997-11-01 | PMID 9491269
Brenner B, Laor A, Lupo H and 3 more
Factor VII R353Q polymorphism and lacunar stroke in Japanese hypertensive patients and normotensive controls.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1997-11-01 | PMID 9491271
Nishiuma S, Kario K, Nakanishi K and 8 more
Genetic screening for Huntington's disease in Chinese patients with involuntary movements.
Clinical neurology and neurosurgery | 1997-12-01 | PMID 9491297
Shan D E, Soong B W, Yeh S I and 2 more
Refinement of the commonly deleted segment in myeloid leukemias with a del(20q).
Genes, chromosomes & cancer | 1998-02-01 | PMID 9491317
Wang P W, Iannantuoni K, Davis E M and 3 more
Genes: RPN2
Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites.
Genes, chromosomes & cancer | 1998-02-01 | PMID 9491320
Zhou X P, Hoang J M, Li Y J and 12 more
Mapping of a new target region of allelic loss to a 2-cM interval at 22q13.1 in primary breast cancer.
Genes, chromosomes & cancer | 1998-02-01 | PMID 9491321
Iida A, Kurose K, Isobe R and 6 more
The mutational specificity of 1-nitroso-6-nitropyrene in the lacI gene of Escherichia coli strains deficient in nucleotide excision repair.
Mutagenesis | 1998-01-01 | PMID 9491388
Lambert I B, Carroll C, Laycock N and 7 more
Chromosome fragmentation resulting from an inability to repair transposase-induced DNA double-strand breaks in PCNA mutants of Drosophila.
Mutagenesis | 1998-01-01 | PMID 9491395
Henderson D S, Glover D M
Genes: PCNA
Mapping the T cell epitopes of the Babesia bovis antigen 12D3: implications for vaccine design.
Parasite immunology | 1998-01-01 | PMID 9491412
Court R A, Sitte K, Opdebeeck J P and 1 more
Association between alleles of the ovine major histocompatibility complex and resistance to footrot.
Research in veterinary science | 2000-01-01 | PMID 9491458
Escayg A P, Hickford J G, Bullock D W
Distribution of chromosome length variation in natural isolates of Escherichia coli.
Molecular biology and evolution | 1998-01-01 | PMID 9491600
Bergthorsson U, Ochman H
Microsatellites, transposable elements and the X chromosome.
Molecular biology and evolution | 1998-01-01 | PMID 9491602
Jarne P, David P, Viard F
Sequence variation in the guillemot (Alcidae: Cepphus) mitochondrial control region and its nuclear homolog.
Molecular biology and evolution | 1998-01-01 | PMID 9491605
Kidd M G, Friesen V L
Cryptic species in marine polychaete and their independent introduction from North America to Europe.
Molecular biology and evolution | 1998-02-01 | PMID 9491608
Bastrop R, Jürss K, Sturmbauer C
Patterns of extensive genetic differentiation and variation among European harbor seals (Phoca vitulina vitulina) revealed using microsatellite DNA polymorphisms.
Molecular biology and evolution | 1998-02-01 | PMID 9491609
Goodman S J
Population structure in the American oyster as inferred by nuclear gene genealogies.
Molecular biology and evolution | 1998-02-01 | PMID 9491610
Hare M P, Avise J C
Sequence variation in ZFX introns in human populations.
Molecular biology and evolution | 1998-02-01 | PMID 9491612
Huang W, Fu Y X, Chang B H and 3 more
Genes: ZFX
Evidence that the phytochrome gene family in black cottonwood has one PHYA locus and two PHYB loci but lacks members of the PHYC/F and PHYE subfamilies.
Molecular biology and evolution | 1998-02-01 | PMID 9491613
Howe G T, Bucciaglia P A, Hackett W P and 3 more
[From phylogenesis to physiology: dopamine receptors].
Bulletin et memoires de l'Academie royale de medecine de Belgique | 1996-01-01 | PMID 9491619
Vincent J D
The small GTP-binding protein Rho1 is a multifunctional protein that regulates actin localization, cell polarity, and septum formation in the fission yeast Schizosaccharomyces pombe.
Genes to cells : devoted to molecular & cellular mechanisms | 1997-11-01 | PMID 9491802
Nakano K, Arai R, Mabuchi I
Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder?
Molecular psychiatry | 1998-01-01 | PMID 9491810
Chandy K G, Fantino E, Wittekindt O and 9 more
Association of the dopamine receptor D4 (DRD4) gene with a refined phenotype of attention deficit hyperactivity disorder (ADHD): a family-based approach.
Molecular psychiatry | 1998-01-01 | PMID 9491811
Swanson J M, Sunohara G A, Kennedy J L and 7 more
Genes: DRD4
Correlation of length of VNTR alleles at the X-linked MAOA gene and phenotypic effect in Tourette syndrome and drug abuse.
Molecular psychiatry | 1998-01-01 | PMID 9491813
Gade R, Muhleman D, Blake H and 5 more
Genes: MAOA
Evidence for association between polymorphisms in the promoter and coding regions of the 5-HT2A receptor gene and response to clozapine.
Molecular psychiatry | 1998-01-01 | PMID 9491814
Arranz M J, Munro J, Owen M J and 6 more
Linked polymorphisms upstream of exons 1 and 2 of the human cholecystokinin gene are not associated with schizophrenia or bipolar disorder.
Molecular psychiatry | 1998-01-01 | PMID 9491815
Bowen T, Norton N, Jacobsen N J and 10 more
Genes: CCK
The dopamine D3 receptor (DRD3) Ser9Gly polymorphism and schizophrenia: a haplotype relative risk study and association with clozapine response.
Molecular psychiatry | 1998-01-01 | PMID 9491816
Malhotra A K, Goldman D, Buchanan R W and 5 more
Genes: DRD3
Systematic mutation screening and association study of the A1 and A2a adenosine receptor genes in panic disorder suggest a contribution of the A2a gene to the development of disease.
Molecular psychiatry | 1998-01-01 | PMID 9491818
Deckert J, Nöthen M M, Franke P and 6 more
Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.
Molecular psychiatry | 1998-01-01 | PMID 9491819
Swift R G, Polymeropoulos M H, Torres R and 1 more
Expression of five selected human mismatch repair genes simultaneously detected in normal and cancer cell lines by a nonradioactive multiplex reverse transcription-polymerase chain reaction.
Pathobiology : journal of immunopathology, molecular and cellular biology | 1997-01-01 | PMID 9491849
Wei Q, Guan Y, Cheng L and 5 more
Interspousal and intrafamilial transmission of hepatitis C virus: a myth or a concern?
Obstetrics and gynecology | 1998-03-01 | PMID 9491872
Kumar R M
Polycomb and trithorax group proteins mediate the function of a chromatin insulator.
Cell | 1998-02-20 | PMID 9491892
Gerasimova T I, Corces V G
Sec3p is a spatial landmark for polarized secretion in budding yeast.
Cell | 1998-02-20 | PMID 9491896
Finger F P, Hughes T E, Novick P
Nonsynonymous mutations within the human immunodeficiency virus type 1 p17 gene are clustered to sequences binding to the host human leukocyte antigen class I molecules.
AIDS research and human retroviruses | 1998-02-10 | PMID 9491914
Birk M, Vahlne A, Sönnerborg A and 1 more
Lamivudine resistance of HIV type 1 does not delay development of resistance to nonnucleoside HIV type 1-specific reverse transcriptase inhibitors as compared with wild-type HIV type 1.
AIDS research and human retroviruses | 1998-02-10 | PMID 9491915
Jonckheere H, Witvrouw M, De Clercq E and 1 more
A novel mutation (F227L) arises in the reverse transcriptase of human immunodeficiency virus type 1 on dose-escalating treatment of HIV type 1-infected cell cultures with the nonnucleoside reverse transcriptase inhibitor thiocarboxanilide UC-781.
AIDS research and human retroviruses | 1998-02-10 | PMID 9491916
Balzarini J, Pelemans H, Esnouf R and 1 more
The transmembrane Semaphorin Sema I is required in Drosophila for embryonic motor and CNS axon guidance.
Neuron | 1998-02-01 | PMID 9491983
Yu H H, Araj H H, Ralls S A and 1 more
Neurotactin functions in concert with other identified CAMs in growth cone guidance in Drosophila.
Neuron | 1998-02-01 | PMID 9491984
Speicher S, García-Alonso L, Carmena A and 3 more
Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants.
Neuron | 1998-02-01 | PMID 9491988
Nicolson T, Rüsch A, Friedrich R W and 3 more
A molecular rhythm mediating circadian clock output in Drosophila.
Neuron | 1998-02-01 | PMID 9491990
McNeil G P, Zhang X, Genova G and 1 more
Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice.
Immunity | 1998-02-01 | PMID 9491996
Clausen B E, Waldburger J M, Schwenk F and 5 more
Genes: CIITA
Bcl-2 obstructs negative selection of autoreactive, hypermutated antibody V regions during memory B cell development.
Immunity | 1998-02-01 | PMID 9492000
Hande S, Notidis E, Manser T
Precursor B cells showing H chain allelic inclusion display allelic exclusion at the level of pre-B cell receptor surface expression.
Immunity | 1998-02-01 | PMID 9492001
ten Boekel E, Melchers F, Rolink A G