Hippocampal kindling increases the expression of glutamate receptor-A Flip and -B Flip mRNA in dentate granule cells.
Neuroscience letters | 1992-12-14 | PMID 1300503
Kamphuis W, Monyer H, De Rijk T C and 1 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 110 of 10600
[Doxycycline in the prevention of experimental plague induced by plague microbe variants].
Antibiotiki i khimioterapiia = Antibiotics and chemoterapy [sic] | 1992-11-01 | PMID 1300930
Samokhodkina E D, Ryzhko I V, Shcherbaniuk A I and 3 more
Cellular localization of Nef expressed in persistently HIV-1-infected low-producer astrocytes.
AIDS (London, England) | 1992-12-01 | PMID 1301062
Kohleisen B, Neumann M, Herrmann R and 5 more
Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination.
Human molecular genetics | 1992-04-01 | PMID 1301131
Den Dunnen J T, Grootscholten P M, Dauwerse J G and 7 more
Genes: DMD
Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice.
Human molecular genetics | 1992-04-01 | PMID 1301134
Wells D J, Wells K E, Walsh F S and 7 more
Genes: DMD
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.
Human molecular genetics | 1992-04-01 | PMID 1301135
Inglehearn C F, Keen T J, Bashir R and 5 more
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Human mutation | 1992-01-01 | PMID 1301187
Eisensmith R C, Woo S L
Genes: PAH
Partial gene duplication as a cause of human disease.
Human mutation | 1992-01-01 | PMID 1301188
Hu X, Worton R G
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
Human mutation | 1992-01-01 | PMID 1301189
Trop I, Kaplan F, Brown C and 2 more
Novel Tay-Sachs disease mutations from China.
Human mutation | 1992-01-01 | PMID 1301190
Akalin N, Shi H P, Vavougios G and 5 more
Genes: HEXA
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
Human mutation | 1992-01-01 | PMID 1301191
Edwards M J, Wenstrup R J, Byers P H and 1 more
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
Human mutation | 1992-01-01 | PMID 1301196
Scott H S, Litjens T, Hopwood J J and 1 more
Prevalence of cystic fibrosis mutations in the East German population.
Human mutation | 1992-01-01 | PMID 1301197
Coutelle C, Brückner R, Grade K and 7 more
Genes: CFTR
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Human mutation | 1992-01-01 | PMID 1301198
Kozich V, Kraus J P
Genes: CBS
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Human mutation | 1992-01-01 | PMID 1301200
Svensson E, Eisensmith R C, Dworniczak B and 4 more
Genes: PAH
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
Human mutation | 1992-01-01 | PMID 1301201
John S W, Scriver C R, Laframboise R and 1 more
Genes: PAH
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
Human mutation | 1992-01-01 | PMID 1301202
Ramus S J, Forrest S M, Cotton R G
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
Human mutation | 1992-01-01 | PMID 1301207
Dahl H H, Brown G K, Brown R M and 7 more
[Molecular pathology of Duchenne and Becker muscular dystrophy].
Comptes rendus des seances de la Societe de biologie et de ses filiales | 1992-01-01 | PMID 1301222
Gilgenkrantz H, Chelly J, Récan D and 2 more
Genes: DMD
[Pathology of unstable sequence of genome: fragile-X-syndrome].
Comptes rendus des seances de la Societe de biologie et de ses filiales | 1992-01-01 | PMID 1301224
Beldjord C, Richard L
The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells.
Molecular and cellular endocrinology | 1992-11-01 | PMID 1301382
Kelton C A, Cheng S V, Nugent N P and 7 more
Variants of the 5'-untranslated sequence of human growth hormone receptor mRNA.
Molecular and cellular endocrinology | 1992-12-01 | PMID 1301391
Pekhletsky R I, Chernov B K, Rubtsov P M
Genes: GHR
Transcriptional activity of a mutant thyroid hormone receptor beta in a family with generalized resistance to thyroid hormone.
Molecular and cellular endocrinology | 1992-12-01 | PMID 1301392
Shuto Y, Okazaki T, Wakabayashi I
Genes: CAT
Phenotypic and proliferative properties of Schwann cells from nerves of diabetic patients.
International journal of clinical pharmacology research | 1992-01-01 | PMID 1301402
Scarpini E, Doronzo R, Baron P and 3 more
[Genetic control of tetracycline resistance in bacteria].
Molekuliarnaia genetika, mikrobiologiia i virusologiia | 2000-01-01 | PMID 1301502
Anisimova L A, Kozlova E V, Parfenova O V and 1 more
Differential effects of two alleles of the dy locus on the pituitary-testicular axis of mice.
Revista espanola de fisiologia | 1992-09-01 | PMID 1301630
Amador A G, Mayerhofer A, Parkening T A and 2 more
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes.
Human molecular genetics | 1992-09-01 | PMID 1301912
Krook A, Stratton I M, O'Rahilly S
Minisatellite variant repeat (MVR) mapping: analysis of 'null' repeat units at D1S8.
Human molecular genetics | 1992-09-01 | PMID 1301914
Tamaki K, Monckton D G, MacLeod A and 3 more
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
Human molecular genetics | 1992-09-01 | PMID 1301916
Sege-Peterson K, Chambers J, Page T and 2 more
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.
Human mutation | 1992-01-01 | PMID 1301926
Almeida M R, Ferlini A, Forabosco A and 7 more
Genes: TTR
Frequency and distribution of phenylketonuric mutations in Orientals.
Human mutation | 1992-01-01 | PMID 1301927
Okano Y, Hase Y, Lee D H and 4 more
Somatic mutations at CA-repeat loci.
Human mutation | 1992-01-01 | PMID 1301929
Jones M H, Nakamura Y
Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.
Human mutation | 1992-01-01 | PMID 1301931
Jordan S A, Farrar G J, Kenna P and 1 more
Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.
Human mutation | 1992-01-01 | PMID 1301932
Diamond C, Kogan S, Levinson B and 1 more
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.
Human mutation | 1992-01-01 | PMID 1301935
Hu P Y, Roth D E, Skaggs L A and 4 more
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
Human mutation | 1992-01-01 | PMID 1301937
Mules E H, Hayflick S, Dowling C E and 4 more
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Human mutation | 1992-01-01 | PMID 1301938
Akerman B R, Zielenski J, Triggs-Raine B L and 7 more
Genes: HEXA
Human hepatic lipase mutations and polymorphisms.
Human mutation | 1992-01-01 | PMID 1301939
Hegele R A, Tu L, Connelly P W
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
Human mutation | 1992-01-01 | PMID 1301941
Scott H S, Litjens T, Nelson P V and 3 more
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
Human mutation | 1992-01-01 | PMID 1301942
Kleiman S, Bernstein J, Schwartz G and 3 more
Genes: PAH
Illegitimate transcription: its use in the study of inherited disease.
Human mutation | 1992-01-01 | PMID 1301944
Kaplan J C, Kahn A, Chelly J
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
Human mutation | 1992-01-01 | PMID 1301945
Ikonen E, Peltonen L
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Human mutation | 1992-01-01 | PMID 1301946
Dietz H C, Saraiva J M, Pyeritz R E and 2 more
Genes: FBN1, EGF
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype.
Human mutation | 1992-01-01 | PMID 1301949
Litjens T, Morris C P, Robertson E F and 3 more
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.
Human mutation | 1992-01-01 | PMID 1301950
Williams C J, Harrison D A, Hopkinson I and 7 more
A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reaction.
Human mutation | 1992-01-01 | PMID 1301951
Birikh K R, Plutalov O V, Schwartz E I and 2 more
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
Human mutation | 1992-01-01 | PMID 1301956
Hobbs H H, Brown M S, Goldstein J L
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
Human mutation | 1992-01-01 | PMID 1301958
Shore S, Tomczak J, Grebner E E and 1 more
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.
Nature genetics | 1992-04-01 | PMID 1301993
Gärtner J, Moser H, Valle D
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nature genetics | 1992-04-01 | PMID 1301995
Lupski J R, Wise C A, Kuwano A and 6 more
Definition of a consensus binding site for p53.
Nature genetics | 1992-04-01 | PMID 1301998
el-Deiry W S, Kern S E, Pietenpol J A and 2 more
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
Nature genetics | 1992-05-01 | PMID 1302008
Bruening W, Bardeesy N, Silverman B L and 5 more
Rescue of erythroid development in gene targeted GATA-1- mouse embryonic stem cells.
Nature genetics | 1992-05-01 | PMID 1302015
Simon M C, Pevny L, Wiles M V and 3 more
The Huntington's disease candidate region exhibits many different haplotypes.
Nature genetics | 1992-05-01 | PMID 1302016
MacDonald M E, Novelletto A, Lin C and 7 more
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.
Nature genetics | 1992-07-01 | PMID 1302019
Stone E M, Nichols B E, Streb L M and 2 more
Evidence of founder chromosomes in fragile X syndrome.
Nature genetics | 1992-07-01 | PMID 1302021
Richards R I, Holman K, Friend K and 7 more
The human PAX6 gene is mutated in two patients with aniridia.
Nature genetics | 1992-08-01 | PMID 1302030
Jordan T, Hanson I, Zaletayev D and 5 more
Genes: PAX6
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.
Nature genetics | 1992-08-01 | PMID 1302033
Mullan M, Crawford F, Axelman K and 4 more
Genes: APP
Deficient nifedipine oxidation: a rare inherited trait associated with cystic fibrosis kindreds.
Pharmacogenetics | 1992-02-01 | PMID 1302038
Daly A K, Salh B S, Bilton D and 5 more
Genes: CFTR
Clinical implications of variable antiarrhythmic drug metabolism.
Pharmacogenetics | 1992-02-01 | PMID 1302039
Buchert E, Woosley R L
Variability of acetaminophen metabolism in Caucasians and Orientals.
Pharmacogenetics | 1992-02-01 | PMID 1302042
Patel M, Tang B K, Kalow W
Detection of human DNA mutations with nonradioactive, allele-specific oligonucleotide probes.
Pharmacogenetics | 1992-04-01 | PMID 1302045
Hajra A, Sorenson R C, La Du B N
Evidence for a dissociation in the control of sparteine, debrisoquine and metoprolol metabolism in Nigerians.
Pharmacogenetics | 1992-04-01 | PMID 1302046
Lennard M S, Iyun A O, Jackson P R and 2 more
Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families.
Bulletin de la Societe belge d'ophtalmologie | 1992-01-01 | PMID 1302143
Van Caelenberghe E, Meire F, Broux C and 2 more
Roles of secondary metabolites from microbes.
Ciba Foundation symposium | 1992-01-01 | PMID 1302177
Vining L C
Useful functions of microbial metabolites.
Ciba Foundation symposium | 1992-01-01 | PMID 1302179
Nisbet L J
Roles for secondary metabolites in plants.
Ciba Foundation symposium | 1992-01-01 | PMID 1302182
Waterman P G
[Influence of lovastatin on serum lipids in patients with primary hyperlipidemia phenotype IIa and IIb. I. Efficacy of lovastatin in the treatment of hyperlipoproteinemia].
Przeglad lekarski | 1992-01-01 | PMID 1302351
Idzior-Waluś B
[Survival and the repair of single-stranded DNA breaks in gamma-irradiated Escherichia coli cells adapted to methylmethane sulfonate].
Tsitologiia | 1992-01-01 | PMID 1302397
Zhestianikov V D, Savel'eva G E
[The mechanisms of the manifestation of the genotoxic effects of binase].
Nauchnye doklady vysshei shkoly. Biologicheskie nauki | 1992-01-01 | PMID 1302497
Ivanchenko O B, Il'inskaia O N, Karamova N S and 1 more
Allelic frequency of a p53 polymorphism in human lung cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-01-01 | PMID 1302561
Weston A, Perrin L S, Forrester K and 4 more
A prospective study of hprt mutant and mutation frequencies in treated cancer patients.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2000-01-01 | PMID 1302570
Caggana M, Liber H L, Coleman C N and 3 more
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
Human molecular genetics | 1992-12-01 | PMID 1302608
Upadhyaya M, Shen M, Cherryson A and 4 more
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
Human molecular genetics | 1992-12-01 | PMID 1302612
Fernandes M, Kaplan F, Natowicz M and 4 more
Efficient initiation of translation at non-AUG triplets in plant cells.
The Plant journal : for cell and molecular biology | 1992-09-01 | PMID 1302633
Gordon K, Fütterer J, Hohn T
Genes: CAT
The root-knot nematode resistance gene (Mi) in tomato: construction of a molecular linkage map and identification of dominant cDNA markers in resistant genotypes.
The Plant journal : for cell and molecular biology | 1992-11-01 | PMID 1302643
Ho J Y, Weide R, Ma H M and 5 more
Identification of an S-locus glycoprotein allele introgressed from B. napus ssp. rapifera to B. napus ssp. oleifera.
The Plant journal : for cell and molecular biology | 1992-11-01 | PMID 1302644
Goring D R, Banks P, Fallis L and 3 more
Mutant vasopressin precursor producing cells of the homozygous Brattleboro rat as a model for co-expression of neuropeptides.
Progress in brain research | 1992-01-01 | PMID 1302873
van Leeuwen F W
Rhesus genotype frequency in Bangladeshi population.
Bangladesh Medical Research Council bulletin | 1992-12-01 | PMID 1303087
Rahman M, Abdulla A Z, Nandy C K and 1 more
HLA-A region in highly sensitized patients: another immune response gene region.
Experimental and clinical immunogenetics | 1992-01-01 | PMID 1303094
Bućin D, Lindholm T, Persson N H
Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.
Human molecular genetics | 1992-06-01 | PMID 1303173
Town M, Bautista J M, Mason P J and 1 more
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Human molecular genetics | 1992-06-01 | PMID 1303177
Steén-Bondeson M L, Dahl N, Tönnesen T and 7 more
Genes: IDS
Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.
Human molecular genetics | 1992-07-01 | PMID 1303191
Ballabio A, Andria G
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.
Human molecular genetics | 1992-07-01 | PMID 1303193
Morell R, Friedman T B, Moeljopawiro S and 3 more
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.
Human molecular genetics | 1992-07-01 | PMID 1303195
Biancalana V, Serville F, Pommier J and 3 more
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Human molecular genetics | 1992-08-01 | PMID 1303211
Bunge S, Steglich C, Beck M and 4 more
Genes: IDS
Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis.
Human molecular genetics | 1992-08-01 | PMID 1303212
Johnson P H, Hopkinson D A
Genes: ABO
Light is a dominant mouse mutation resulting in premature cell death.
Nature genetics | 1992-06-01 | PMID 1303241
Johnson R, Jackson I J
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.
Nature genetics | 1992-09-01 | PMID 1303246
Kandt R S, Haines J L, Smith M and 7 more
Genes: PKD1
Distinct and overlapping functions of allelic forms of human mannose binding protein.
Nature genetics | 1992-09-01 | PMID 1303250
Super M, Gillies S D, Foley S and 4 more
Genes: MBP
Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.
Nature genetics | 1992-09-01 | PMID 1303253
Lifton R P, Dluhy R G, Powers M and 7 more
Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.
Nature genetics | 1992-09-01 | PMID 1303254
Steel K P, Smith R J
Genes: PAX3
Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome.
Nature genetics | 1992-10-01 | PMID 1303261
Smith S A, Easton D F, Evans D G and 1 more
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Nature genetics | 1992-10-01 | PMID 1303265
Stoffel M, Patel P, Lo Y M and 7 more
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
Nature genetics | 1992-12-01 | PMID 1303277
Ozçelik T, Leff S, Robinson W and 5 more
Genes: SNRPN
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
Nature genetics | 1992-12-01 | PMID 1303283
La Spada A R, Roling D B, Harding A E and 5 more
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.
Nature genetics | 1992-12-01 | PMID 1303286
Ben Othmane K, Ben Hamida M, Pericak-Vance M A and 7 more
Genes: DMD
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
Nature genetics | 1992-12-01 | PMID 1303289
St George-Hyslop P, Haines J, Rogaev E and 29 more
Genes: APP
Genetic polymorphism of complement component C6, C7 and C8(1) in Chinese Han population in northeast China.
Nihon hoigaku zasshi = The Japanese journal of legal medicine | 1992-12-01 | PMID 1303452
Tsunenari S, Kibayashi K, Higashi T and 3 more
[DNA typing and analysis of the D1S8 (MS 32) allele in the Japanese population by the minisatellite variant repeat (MVR) mapping by polymerase chain reaction (PCR) assay].
Nihon hoigaku zasshi = The Japanese journal of legal medicine | 1992-12-01 | PMID 1303453
Tamaki K, Yamamoto T, Uchihi R and 3 more