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 416 of 10600

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
Human molecular genetics | 1995-08-01 | PMID 7581364
Wirth B, Hahnen E, Morgan K and 6 more
Genes: NAIP
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
Human molecular genetics | 1995-08-01 | PMID 7581365
Rafi M A, Luzi P, Chen Y Q and 1 more
Genes: GALC
A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin.
Human molecular genetics | 1995-08-01 | PMID 7581368
Hansen L, Hansen T, Vestergaard H and 7 more
Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene.
Human molecular genetics | 1995-08-01 | PMID 7581369
Savoia A, Centra M, Ianzano L and 3 more
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
Human molecular genetics | 1995-08-01 | PMID 7581370
Rötig A, Bourgeron T, Chretien D and 2 more
Expression of the Huntington's disease (IT15) protein product in HD patients.
Human molecular genetics | 1995-08-01 | PMID 7581375
Schilling G, Sharp A H, Loev S J and 4 more
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Human molecular genetics | 1995-08-01 | PMID 7581377
Attié T, Pelet A, Edery P and 7 more
Genes: RET
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
Human molecular genetics | 1995-08-01 | PMID 7581378
Gorry M C, Preston R A, White G J and 7 more
Genes: FGFR2
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
Human molecular genetics | 1995-08-01 | PMID 7581379
Parmentier L, Blanchet-Bardon C, Nguyen S and 3 more
Genes: TGM1
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.
Human molecular genetics | 1995-08-01 | PMID 7581386
Holmberg M, Johansson J, Forsgren L and 3 more
Mutational analysis of patients with X-linked adrenoleukodystrophy.
Human mutation | 1995-01-01 | PMID 7581394
Kok F, Neumann S, Sarde C O and 7 more
Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction.
Human mutation | 1995-01-01 | PMID 7581398
Fang P, Bouma S, Jou C and 2 more
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
Human mutation | 1995-01-01 | PMID 7581399
Murono K, Mendonca B B, Arnhold I J and 3 more
Genes: CAT
Allele-specific competitive blocker PCR: a one-step method with applicability to pool screening.
Human mutation | 1995-01-01 | PMID 7581400
Orou A, Fechner B, Utermann G and 1 more
Genes: CFTR
Mutations in the estrogen receptor gene.
Human mutation | 1995-01-01 | PMID 7581411
Sluyser M
Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
Nature genetics | 1995-11-01 | PMID 7581448
Lim L E, Duclos F, Broux O and 7 more
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
Nature genetics | 1995-11-01 | PMID 7581449
Bönnemann C G, Modi R, Noguchi S and 7 more
Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
Nature genetics | 1995-11-01 | PMID 7581450
Adlkofer K, Martini R, Aguzzi A and 3 more
Genes: PMP22
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.
Nature genetics | 1995-11-01 | PMID 7581451
Martini R, Zielasek J, Toyka K V and 2 more
Targeted mutation in the Fas gene causes hyperplasia in peripheral lymphoid organs and liver.
Nature genetics | 1995-11-01 | PMID 7581453
Adachi M, Suematsu S, Kondo T and 4 more
Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.
Nature genetics | 1995-11-01 | PMID 7581459
Valverde P, Healy E, Jackson I and 2 more
Contribution of the FMR1 gene mutation to human intellectual dysfunction.
Nature genetics | 1995-11-01 | PMID 7581460
Reiss A L, Freund L S, Baumgardner T L and 2 more
Genes: FMR1
The CYP2A gene subfamily: species differences, regulation, catalytic activities and role in chemical carcinogenesis.
Pharmacogenetics | 1995-01-01 | PMID 7581481
Fernandez-Salguero P, Gonzalez F J
Cytochrome P4502E1 (CYP2E1) genetic polymorphism in a case-control study of gastric cancer and liver disease.
Pharmacogenetics | 1995-01-01 | PMID 7581484
Kato S, Onda M, Matsukura N and 7 more
Assessment of cancer susceptibility in humans by use of genetic polymorphisms in carcinogen metabolism.
Pharmacogenetics | 1995-01-01 | PMID 7581487
Ikawa S, Uematsu F, Watanabe K and 6 more
Genetic polymorphisms and susceptibility to cancer development.
Pharmacogenetics | 1995-01-01 | PMID 7581488
Sugimura T, Inoue R, Ohgaki H and 3 more
Genes: BRCA1
Genetic polymorphisms of drug-metabolizing enzymes and lung cancer susceptibility.
Pharmacogenetics | 1995-01-01 | PMID 7581493
Kawajiri K, Watanabe J, Eguchi H and 1 more
Genes: GSTM1
Distribution of GSTM1 null genotype in relation to gender, age and smoking status in Japanese lung cancer patients.
Pharmacogenetics | 1995-01-01 | PMID 7581494
Kihara M, Noda K, Kihara M
Genes: GSTM1
Metabolic polymorphism affecting DNA binding and excretion of carcinogens in humans.
Pharmacogenetics | 1995-01-01 | PMID 7581496
Bartsch H, Rojas M, Alexandrov K and 7 more
Genes: PAH
The procarcinogen hypothesis for bladder cancer: activities of individual drug metabolizing enzymes as risk factors.
Pharmacogenetics | 1995-01-01 | PMID 7581498
Branch R A, Chern H D, Adedoyin A and 7 more
An in vivo analysis of transcriptional elements in the mouse alpha-myosin heavy chain gene promoter.
Transgenic research | 1995-11-01 | PMID 7581520
Rindt H, Subramaniam A, Robbins J
Reproductive health in young people with cystic fibrosis.
Current opinion in pediatrics | 1995-08-01 | PMID 7581639
Sawyer S M
Ligand-independent hormone secretion.
Current opinion in pediatrics | 1995-08-01 | PMID 7581649
Laue L
Molecular defects in thyroid carcinomas: role of the RET oncogene in thyroid neoplastic transformation.
European journal of endocrinology | 1995-11-01 | PMID 7581978
Santoro M, Grieco M, Melillo R M and 2 more
Genes: RET
Review of Turkish patients with growth hormone insensitivity (Laron type).
European journal of endocrinology | 1995-11-01 | PMID 7581982
Yordam N, Kandemir N, Erkul I and 2 more
Genes: SDS
A NADP-glutamate dehydrogenase mutant of the petit-negative yeast Kluyveromyces lactis uses the glutamine synthetase-glutamate synthase pathway for glutamate biosynthesis.
Microbiology (Reading, England) | 1995-10-01 | PMID 7582004
Valenzuela L, Guzmán-León S, Coria R and 3 more
Sequence and functional analysis of the Streptomyces phaeochromogenes plasmid pJV1 reveals a modular organization of Streptomyces plasmids that replicate by rolling circle.
Microbiology (Reading, England) | 1995-10-01 | PMID 7582009
Servín-González L, Sampieri A I, Cabello J and 3 more
Acetyl-CoA-dependent pyruvate carboxylase from the photosynthetic bacterium Rhodobacter capsulatus: rapid and efficient purification using dye-ligand affinity chromatography.
Microbiology (Reading, England) | 1995-10-01 | PMID 7582022
Modak H V, Kelly D J
Isolation of canCHS1A, a variant gene of Candida albicans chitin synthase.
Microbiology (Reading, England) | 1995-10-01 | PMID 7582026
Sudoh M, Watanabe M, Mio T and 4 more
Role of LPS length in clearance rate of bacteria from the bloodstream in mice.
Microbiology (Reading, England) | 1995-10-01 | PMID 7582035
Ohno A, Isii Y, Tateda K and 4 more
Progress in Alzheimer's disease genetics.
Current opinion in neurology | 1995-08-01 | PMID 7582040
Schellenberg G D
Genes: APOE
Human prion diseases.
Current opinion in neurology | 1995-08-01 | PMID 7582044
Parchi P, Gambetti P
Motor neuron disease caused by mutations in superoxide dismutase 1.
Current opinion in neurology | 1995-08-01 | PMID 7582045
Wong P C, Borchelt D R
Dopa-responsive dystonia.
Current opinion in neurology | 1995-08-01 | PMID 7582048
Nygaard T G
Myoclonus.
Current opinion in neurology | 1995-08-01 | PMID 7582053
Shibasaki H
Gene expression and vascular smooth muscle cell phenotype.
Blood pressure. Supplement | 1995-01-01 | PMID 7582079
Weissberg P L, Cary N R, Shanahan C M
Genes: MGP
TrkA tyrosine residues involved in NGF-induced neurite outgrowth of PC12 cells.
The European journal of neuroscience | 1995-06-01 | PMID 7582085
Inagaki N, Thoenen H, Lindholm D
Genes: NGF
Cellular and subcellular distribution of NMDAR1 splice variant mRNA in the rat lumbar spinal cord.
The European journal of neuroscience | 1995-06-01 | PMID 7582097
Tölle T R, Berthele A, Laurie D J and 2 more
Flip and Flop variants of AMPA receptors in the rat lumbar spinal cord.
The European journal of neuroscience | 1995-06-01 | PMID 7582117
Tölle T R, Berthele A, Zieglgänsberger W and 2 more
The phylogenetic distribution of a transposable dioxygenase from the Niagara River watershed.
Molecular ecology | 1995-10-01 | PMID 7582167
Nakatsu C H, Fulthorpe R R, Holland B A and 2 more
Genetic diversity within mer genes directly amplified from communities of noncultivated soil and sediment bacteria.
Molecular ecology | 1995-10-01 | PMID 7582168
Bruce K D, Osborn A M, Pearson A J and 2 more
DNA-based monitoring of total bacterial community structure in environmental samples.
Molecular ecology | 1995-10-01 | PMID 7582170
Holben W E, Harris D
Spatial analysis of nuclear and mitochondrial RFLP genotypes in populations of the chestnut blight fungus, Cryphonectria parasitica.
Molecular ecology | 1995-10-01 | PMID 7582171
Milgroom M G, Lipari S E
Genetic alterations associated with the evolution and progression of astrocytic brain tumours.
Virchows Archiv : an international journal of pathology | 1995-01-01 | PMID 7582239
Ohgaki H, Schäuble B, zur Hausen A and 2 more
Genes: EGF
HPV DNA and p53 alterations in oropharyngeal carcinomas.
Virchows Archiv : an international journal of pathology | 1995-01-01 | PMID 7582245
Barten M, Ostwald C, Milde-Langosch K and 3 more
Dyslipidaemia and coronary heart disease: nature vs nurture.
British journal of hospital medicine | 2000-01-01 | PMID 7582364
Hegele R A
Prevention by blockade of angiotensin subtype1-receptors of the development of genetic hypertension but not its heritability.
British journal of pharmacology | 1995-06-01 | PMID 7582472
Madeddu P, Anania V, Varoni M V and 6 more
The hyperthermic and neurotoxic effects of 'Ecstasy' (MDMA) and 3,4 methylenedioxyamphetamine (MDA) in the Dark Agouti (DA) rat, a model of the CYP2D6 poor metabolizer phenotype.
British journal of pharmacology | 1995-08-01 | PMID 7582557
Colado M I, Williams J L, Green A R
Occurrence of fumonisins in Europe and the BCR--measurements and testing projects.
Natural toxins | 1995-01-01 | PMID 7582628
Visconti A, Boenke A, Doko M B and 2 more
Genes: BCR
Arthropathy, leucopenia and recurrent infection associated with a TcR gamma delta population.
British journal of rheumatology | 1995-10-01 | PMID 7582708
Hodges E, Quin C, Farrell A M and 5 more
Effect of apolipoprotein E polymorphism on fasting retinyl palmitate level.
Biochemical and molecular medicine | 1995-08-01 | PMID 7582873
Surguchov A P, Boerwinkle E, Sharrett A R and 1 more
Search for a schizophrenia susceptibility gene on chromosome 18.
Psychiatric genetics | 1995-01-01 | PMID 7582878
Fang N, Coon H, Hoff M and 7 more
Donor specific bone marrow cells suppress lymphocyte reactivity to donor antigens and differentially modulate TH1 and TH2 cytokine gene expression in the responder cell population.
Transplant immunology | 1995-06-01 | PMID 7582903
Lagoo-Deenadayalan S, Lagoo A S, Lemons J A and 5 more
A minimal conditioning approach to achieve stable multilineage mouse plus rat chimerism.
Transplant immunology | 1995-06-01 | PMID 7582911
Abou el-Ezz A Y, Boggs S S, Johnson P C and 5 more
On some electrolytic and water metabolism modifications in rats susceptible to audiogenic convulsions.
Romanian journal of physiology : physiological sciences | 2000-01-01 | PMID 7582924
Uluitu M, Chiş R, Bădescu A
Cadherin 11 expression marks the mesenchymal phenotype: towards new functions for cadherins?
Cell adhesion and communication | 1995-05-01 | PMID 7583005
Simonneau L, Kitagawa M, Suzuki S and 1 more
An alternatively spliced exon in the extracellular domain of the human alpha 6 integrin subunit--functional analysis of the alpha 6 integrin variants.
Cell adhesion and communication | 1995-05-01 | PMID 7583007
Delwel G O, Kuikman I, Sonnenberg A
A genetic map of chromosome 11q, including the atopy locus.
European journal of human genetics : EJHG | 1995-01-01 | PMID 7583044
Sandford A J, Moffatt M F, Daniels S E and 4 more
Convergent myotonic dystrophy (DM) haplotypes: potential inconsistencies in human disease gene localization.
European journal of human genetics : EJHG | 1995-01-01 | PMID 7583045
Whiting E J, Tsilfidis C, Surh L and 2 more
Evolutionary genetics. The silence of the genes.
Current biology : CB | 1995-05-01 | PMID 7583087
Hurst L D
Quantitative genetics. Loci with large effects.
Current biology : CB | 1995-05-01 | PMID 7583095
Keightley P D
Functions of fibroblast growth factors and their receptors.
Current biology : CB | 1995-05-01 | PMID 7583099
Wilkie A O, Morriss-Kay G M, Jones E Y and 1 more
A role for activator-mediated TFIIB recruitment in diverse aspects of transcriptional regulation.
Current biology : CB | 1995-05-01 | PMID 7583100
Roberts S G, Choy B, Walker S S and 2 more
Programmed cell death in the Drosophila central nervous system midline.
Current biology : CB | 1995-07-01 | PMID 7583125
Zhou L, Hashimi H, Schwartz L M and 1 more
LMP2+ proteasomes are required for the presentation of specific antigens to cytotoxic T lymphocytes.
Current biology : CB | 1995-08-01 | PMID 7583150
Sibille C, Gould K G, Willard-Gallo K and 5 more
Differential testicular responses to short daylength in deer mice are reflected by regional and morphological differences in the GnRH neuronal system.
Brain research | 1995-07-10 | PMID 7583239
Korytko A I, Marcelino J, Blank J L
Pseudorabies virus mutants as transneuronal markers.
Brain research | 1995-07-31 | PMID 7583303
Sams J M, Jansen A S, Mettenleiter T C and 1 more
Genetic dissection of inflammatory responses.
Journal of inflammation | 1995-01-01 | PMID 7583351
Nadeau J H, Arbuckle L D, Skamene E
Absence of lymph nodes in lymphotoxin-alpha(LT alpha)-deficient mice is due to abnormal organ development, not defective lymphocyte migration.
Journal of inflammation | 1995-01-01 | PMID 7583355
Mariathasan S, Matsumoto M, Baranyay F and 3 more
Comparative expression of TNF-alpha alleles from normal and autoimmune-prone MHC haplotypes.
Journal of inflammation | 1995-01-01 | PMID 7583356
Bazzoni F, Beutler B
Genes: TNF
Insertion/deletion polymorphism in the angiotensin-converting enzyme gene associated with macroangiopathy and blood pressure in patients with non-insulin-dependent diabetes mellitus.
Journal of molecular medicine (Berlin, Germany) | 1995-06-01 | PMID 7583453
Ukkola O, Savolainen M J, Salmela P I and 3 more
Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->Ser mutation in the human LPL gene.
Arteriosclerosis, thrombosis, and vascular biology | 1995-10-01 | PMID 7583546
Zhang H, Reymer P W, Liu M S and 7 more
Genes: LPL
Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology | 1995-10-01 | PMID 7583547
Pimstone S N, Gagné S E, Gagné C and 7 more
Genes: LPL
Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology | 1995-10-01 | PMID 7583549
Miserez A R, Keller U
Genes: LDLR
A major locus influencing plasma high-density lipoprotein cholesterol levels in the San Antonio Family Heart Study. Segregation and linkage analyses.
Arteriosclerosis, thrombosis, and vascular biology | 1995-10-01 | PMID 7583550
Mahaney M C, Blangero J, Rainwater D L and 5 more
G-->A substitution at position -75 of the apolipoprotein A-I gene promoter. Evidence against a direct effect on HDL cholesterol levels.
Arteriosclerosis, thrombosis, and vascular biology | 1995-10-01 | PMID 7583551
Minnich A, DeLangavant G, Lavigne J and 3 more
Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase.
Arteriosclerosis, thrombosis, and vascular biology | 1995-11-01 | PMID 7583564
Hirano K, Yamashita S, Kuga Y and 7 more
Genes: ACD, CETP
In vivo activation of met tyrosine kinase by heterodimeric hepatocyte growth factor molecule promotes angiogenesis.
Arteriosclerosis, thrombosis, and vascular biology | 1995-11-01 | PMID 7583565
Silvagno F, Follenzi A, Arese M and 6 more
Genes: HGF
A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary heart disease.
Arteriosclerosis, thrombosis, and vascular biology | 1995-11-01 | PMID 7583566
Takata K, Saku K, Ohta T and 7 more
Genetic anticipation in schizophrenia: pro and con.
Clinical neuroscience (New York, N.Y.) | 1995-01-01 | PMID 7583622
Petronis A, Sherrington R P, Paterson A D and 1 more
Structure-based design of a lysozyme with altered catalytic activity.
Nature structural biology | 1995-11-01 | PMID 7583653
Kuroki R, Weaver L H, Matthews B W
Structural features of the epsilon subunit of the Escherichia coli ATP synthase determined by NMR spectroscopy.
Nature structural biology | 1995-11-01 | PMID 7583669
Wilkens S, Dahlquist F W, McIntosh L P and 2 more
Cyclosporin A promotes nuclear transfer of a cytoplasmic progesterone receptor mutant.
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie | 1995-08-01 | PMID 7583777
Jung-Testas I, Lebeau M C, Catelli M G and 1 more
Isoform diversity and tandem duplication of the glycoprotein A gene in ferret Pneumocystis carinii.
DNA research : an international journal for rapid publication of reports on genes and genomes | 1995-01-01 | PMID 7584051
Wright T W, Bissoondial T Y, Haidaris C G and 2 more
Progress towards gene therapy for HIV infection.
Gene therapy | 1994-01-01 | PMID 7584055
Yu M, Poeschla E, Wong-Staal F
Rapid protection against human immunodeficiency virus type 1 (HIV-1) replication mediated by high efficiency non-retroviral delivery of genes interfering with HIV-1 tat and gag.
Gene therapy | 1994-01-01 | PMID 7584056
Lori F, Lisziewicz J, Smythe J and 4 more
Regulated expression of a dominant negative form of Rev improves resistance to HIV replication in T cells.
Gene therapy | 1994-01-01 | PMID 7584057
Liu J, Woffendin C, Yang Z Y and 1 more
Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer.
Gene therapy | 1994-07-01 | PMID 7584088
Fang B, Eisensmith R C, Li X H and 4 more
Genes: PAH
Antitumor activity and reporter gene transfer into rat brain neoplasms inoculated with herpes simplex virus vectors defective in thymidine kinase or ribonucleotide reductase.
Gene therapy | 1994-09-01 | PMID 7584098
Boviatsis E J, Scharf J M, Chase M and 4 more
Suppression of various human tumor cell lines by a dominant negative H-ras mutant.
Gene therapy | 1994-11-01 | PMID 7584106
Ogiso Y, Sakai N, Watari H and 2 more