Haemoglobin Lleida: a new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype.
British journal of haematology | 1996-09-01 | PMID 8826886
Ayala S, Colomer D, Pujades A and 2 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 754 of 10600
Prenatal diagnosis in combined antithrombin and factor V gene mutation.
British journal of haematology | 1996-09-01 | PMID 8826905
Lane D A, Auberger K, Ireland H and 2 more
Relapse of acute myelogenous leukemia during low dose interleukin-2 (IL-2) therapy. Phenotypic evolution associated with strong expression of the IL-2 receptor alpha chain.
Cancer | 1995-04-01 | PMID 8826915
Spiekermann K, O'Brien S, Estey E
Genes: MPO
Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review.
Cancer | 1996-09-15 | PMID 8826936
Lynch H T, Smyrk T
p53 mutations do not predict response to paclitaxel/radiation for nonsmall cell lung carcinoma.
Cancer | 1996-09-15 | PMID 8826941
Safran H, King T, Choy H and 7 more
Coabnormal expression of cyclin D1 and p53 protein in human uterine endometrial carcinomas.
Cancer | 1996-09-15 | PMID 8826947
Nikaido T, Li S F, Shiozawa T and 1 more
The apoB-100 gene EcoRI polymorphism influences the relationship between features of the insulin resistance syndrome and the hyper-apoB and dense LDL phenotype in men.
Diabetes | 1996-10-01 | PMID 8826978
Vohl M C, Tchernof A, Dionne F T and 6 more
Molecular analyses of liver tumors in c-myc transgenic mice and c-myc and TGF-alpha double transgenic mice.
Cancer letters | 1996-08-23 | PMID 8827045
Ohgaki H, Sanderson N D, Ton P and 1 more
Functional study of multidrug resistance with fluorescent dyes. Limits of the assay for low levels of resistance and application in clinical samples.
Cancer letters | 1996-08-23 | PMID 8827047
Canitrot Y, Lahmy S, Buquen J J and 2 more
Lack of mutations in K-ras codons 12 and 13 in human atherosclerotic lesions.
Chemico-biological interactions | 1996-09-27 | PMID 8827062
Bogliolo M, Fronza G, Campomenosi P and 5 more
Germline WT1 mutations in Wilms' tumor patients: preliminary results.
Medical and pediatric oncology | 1996-11-01 | PMID 8827066
Li F P, Breslow N E, Morgan J M and 6 more
Genotype/phenotype correlations in Wilms' tumor.
Medical and pediatric oncology | 1996-11-01 | PMID 8827067
Huff V
Fusion of the EWS1 and WT1 genes as a result of the t(11;22)(p13;q12) translocation in desmoplastic small round cell tumors.
Medical and pediatric oncology | 1996-11-01 | PMID 8827070
Benjamin L E, Fredericks W J, Barr F G and 1 more
Gene targeting in kidney development.
Medical and pediatric oncology | 1996-11-01 | PMID 8827072
Kreidberg J A
Functional properties of WT1.
Medical and pediatric oncology | 1996-11-01 | PMID 8827073
Haber D A, Englert C, Maheswaran S
Genes: EGFR
Molecular biology of Beckwith-Wiedemann syndrome.
Medical and pediatric oncology | 1996-11-01 | PMID 8827075
Weksberg R, Squire J A
Genes: IGF2
Role of genomic imprinting in Wilms' tumour and overgrowth disorders.
Medical and pediatric oncology | 1996-11-01 | PMID 8827076
Reeve A E
Genes: IGF2
Genomic imprinting and Wilms' tumor.
Medical and pediatric oncology | 1996-11-01 | PMID 8827077
Moulton T, Chung W Y, Yuan L and 4 more
Genes: IGF2
Multiple genetic abnormalities of 11p15 in Wilms' tumor.
Medical and pediatric oncology | 1996-11-01 | PMID 8827078
Feinberg A P
Codon 877 mutation in the androgen receptor gene in advanced prostate cancer: relation to antiandrogen withdrawal syndrome.
The Prostate | 1996-09-01 | PMID 8827083
Suzuki H, Akakura K, Komiya A and 3 more
Familial correlations, cohabitation effects, and heritability for cardiovascular risk factors.
Annals of epidemiology | 1996-05-01 | PMID 8827153
Knuiman M W, Divitini M L, Welborn T A and 1 more
The "protective" influence of cigarette smoking on Alzheimer's and Parkinson's diseases. Quagmire or opportunity for neuroepidemiology?
Neurologic clinics | 1996-05-01 | PMID 8827176
Riggs J E
Changing demographics and neurologic disease in the elderly.
Neurologic clinics | 1996-05-01 | PMID 8827184
Riggs J E
The role of HIV type 1 phenotype and genotype in long-term responders to zidovudine therapy.
AIDS research and human retroviruses | 1996-07-20 | PMID 8827212
Angarano G, Monno L, Vivirito M C and 7 more
Type 1 cytokine production and low prevalence of viral isolation correlate with long-term nonprogression in HIV infection.
AIDS research and human retroviruses | 1996-07-20 | PMID 8827221
Clerici M, Balotta C, Meroni L and 8 more
Phenotypical expression in XX males correlates with testicular response to exogenous choriogonadotropin in early infancy: does a variable degree of testicular failure determine the degree of genital ambiguity?
Archives of andrology | 2000-01-01 | PMID 8827344
Méndez J P, Ulloa-Aguirre A, Kofman-Alfaro S and 4 more
p53 is frequently mutated in Barrett's metaplasia of the intestinal type.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 1996-07-01 | PMID 8827361
Campomenosi P, Conio M, Bogliolo M and 9 more
Phylogeographic variability in traditional societies.
Ciba Foundation symposium | 1996-01-01 | PMID 8827366
Ward R H, Valencia D
Interpreting genetic variability: the effects of shared evolutionary history.
Ciba Foundation symposium | 1996-01-01 | PMID 8827367
Donnelly P
The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.
Ciba Foundation symposium | 1996-01-01 | PMID 8827369
Scriver C R, Byck S, Prevost L and 1 more
Genes: PAH
Genetic and geographical variability in cystic fibrosis: evolutionary considerations.
Ciba Foundation symposium | 1996-01-01 | PMID 8827370
Bertranpetit J, Calafell F
Unusual inheritance patterns due to dynamic mutation in fragile X syndrome.
Ciba Foundation symposium | 1996-01-01 | PMID 8827371
Sutherland G R, Richards R I
Genes: FMR1
Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience.
Ciba Foundation symposium | 1996-01-01 | PMID 8827372
Cao A, Rosatelli M C, Galanello R
Population genetics of tumours.
Ciba Foundation symposium | 1996-01-01 | PMID 8827374
Bodmer W F, Tomlinson I
Genetic factors that contribute to interindividual variations in plasma low density lipoprotein-cholesterol levels.
Ciba Foundation symposium | 1996-01-01 | PMID 8827375
Cohen J, Gaw A, Barnes R I and 2 more
World distribution of HLA alleles and implications for disease.
Ciba Foundation symposium | 1996-01-01 | PMID 8827377
Bodmer J
Cladistic approaches to identifying determinants of variability in multifactorial phenotypes and the evolutionary significance of variation in the human genome.
Ciba Foundation symposium | 1996-01-01 | PMID 8827378
Templeton A R
Quantitative phenotype analysis for localization and identification of disease-related genes in a complex genetic background.
Ciba Foundation symposium | 1996-01-01 | PMID 8827379
Lathrop G M
The genetics of common diseases: the implications of population variability.
Ciba Foundation symposium | 1996-01-01 | PMID 8827380
Weatherall D J
Experimental study on cleft lip and/or palate: fetuses of A/J mice in uteri of F1 hybrid mothers using ovarian transplantation.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association | 1996-07-01 | PMID 8827384
Yoshida K, Natsume N, Kinoshita H and 3 more
The virion proteins encoded by bacteriophage phi K and its host-range mutant phi KhT: host-range determination and DNA binding properties.
Journal of biochemistry | 1996-06-01 | PMID 8827438
Kodaira K, Oki M, Kakikawa M and 2 more
Genes: SSB
Transdominant inhibition of Moloney murine leukemia virus proliferation by defective mutants of reverse transcriptase.
Journal of biochemistry | 1996-06-01 | PMID 8827439
Shirasawa Y, Sato S, Osawa T and 1 more
Roles of the conserved cytoplasmic region and non-conserved carboxy-terminal region of SecE in Escherichia coli protein translocase.
Journal of biochemistry | 1996-06-01 | PMID 8827448
Kontinen V P, Yamanaka M, Nishiyama K and 1 more
Performance of commercial cultures in fluid milk applications.
Journal of dairy science | 1996-06-01 | PMID 8827459
Sanders M E, Walker D C, Walker K M and 2 more
Association between milk protein genetic variants and genetic values of Canadian Holstein bulls for milk yield traits.
Journal of dairy science | 1996-06-01 | PMID 8827470
Sabour M P, Lin C Y, Lee A J and 1 more
Factors influencing international comparisons of dairy sires.
Journal of dairy science | 1996-06-01 | PMID 8827476
Schaeffer L R, Reents R, Jamrozik J
Naturally occurring mutations in mice affecting lipid transport and metabolism.
Journal of lipid research | 1996-07-01 | PMID 8827513
Reue K, Doolittle M H
Characterization of inherited scavenger receptor overexpression and abnormal macrophage phenotype in a normolipidemic subject with planar xanthomas.
Journal of lipid research | 1996-07-01 | PMID 8827515
Giry C, Giroux L M, Roy M and 2 more
Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
Journal of lipid research | 1996-07-01 | PMID 8827518
Garuti R, Lelli N, Barozzini M and 7 more
Phenotypic abnormalities in long-term surviving cystic fibrosis mice.
Pediatric research | 1996-08-01 | PMID 8827771
Kent G, Oliver M, Foskett J K and 7 more
Genes: CFTR
Dermatoglyphic a-b ridge count as a possible marker for developmental disturbance in schizophrenia: replication in two samples.
Schizophrenia research | 1996-07-05 | PMID 8827858
Fañanas L, van Os J, Hoyos C and 3 more
Genes: TFRC
[Multidrug resistance in acute leukemia].
[Rinsho ketsueki] The Japanese journal of clinical hematology | 1996-08-01 | PMID 8827870
Takeshita A, Ohno R
[Bone marrow transplantation from an unrelated donor in patient with congenital heart diseases].
[Rinsho ketsueki] The Japanese journal of clinical hematology | 1996-08-01 | PMID 8827886
Kumazaki H, Hanada R, Kikuchi A and 3 more
Cross-linking the TCR complex induces apoptosis in CD4+8+ thymocytes in the presence of cyclosporin A.
Developmental immunology | 1996-01-01 | PMID 8828007
Poetschke H L, Klug D B, Walker D and 1 more
Mechanisms involved in the binding of thymocytes to rat thymic dendritic cells.
Developmental immunology | 1996-01-01 | PMID 8828010
Colić M, Ilić V, Pavlović M D and 2 more
An integrated genetic map of the pearl locus of mouse chromosome 13.
Genome research | 1996-06-01 | PMID 8828042
Seymour A B, Yanak B L, O'Brien E P and 5 more
PCR induction of a TaqI restriction site at any CpG dinucleotide using two mismatched primers (CpG-PCR).
Genome research | 1996-06-01 | PMID 8828045
O'Dell S D, Humphries S E, Day I N
Characterization of virulence of the Streptococcus suis serotype 2 reference strain Henrichsen S 735 in newborn gnotobiotic pigs.
Veterinary microbiology | 1996-07-01 | PMID 8828129
Vecht U, Wisselink H J, Stockhofe-Zurwieden N and 1 more
Retroelements: propagation and adaptation.
Virus genes | 1995-01-01 | PMID 8828139
Hull R, Covey S N
Molecular evolution of aphthoviruses.
Virus genes | 1995-01-01 | PMID 8828146
Domingo E, Mateu M G, Escarmís C and 5 more
Requirement for the Candida albicans FAS2 gene for infection in a rat model of oropharyngeal candidiasis.
Microbiology (Reading, England) | 1996-09-01 | PMID 8828218
Zhao X J, McElhaney-Feser G E, Bowen W H and 3 more
Genes: FAS
Defect in export and synthesis of the periplasmic galactose receptor MglB in dnaK mutants of Escherichia coli, and decreased stability of the mglB mRNA.
Microbiology (Reading, England) | 1996-09-01 | PMID 8828228
el Yaagoubi A, Kohiyama M, Richarme G
Expression of the exoY gene, required for exopolysaccharide synthesis in Agrobacterium, is activated by the regulatory ros gene.
Microbiology (Reading, England) | 1996-09-01 | PMID 8828231
Tiburtius A, de Luca N G, Hussain H and 1 more
Role of BRCA1 mutation screening in the management of familial ovarian cancer.
American journal of obstetrics and gynecology | 1996-09-01 | PMID 8828444
Berchuck A, Cirisano F, Lancaster J M and 4 more
Genes: BRCA1
Amino acid substitutions of thyroid hormone receptor-beta at codon 435 with resistance to thyroid hormone selectively alter homodimer formation.
Endocrinology | 1996-10-01 | PMID 8828460
Nomura Y, Nagaya T, Tsukaguchi H and 2 more
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
European journal of pediatrics | 1996-07-01 | PMID 8828600
Güttler F, Guldberg P
Genes: PAH
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria.
European journal of pediatrics | 1996-07-01 | PMID 8828601
Burgard P, Rupp A, Konecki D S and 3 more
Source of Pneumocystis carinii in recurrent episodes of pneumonia in AIDS patients.
AIDS (London, England) | 1996-07-01 | PMID 8828745
Keely S P, Baughman R P, Smulian A G and 2 more
Epidemiological and molecular characteristics of HIV infection in Gabon, 1986-1994.
AIDS (London, England) | 1996-07-01 | PMID 8828748
Delaporte E, Janssens W, Peeters M and 14 more
Genes: MVP
Modification of human neuron-specific enolase for application to radioimmunoassay.
Biochemistry and molecular biology international | 1996-06-01 | PMID 8828797
Aoki T, Kaneta M, Onagi H and 3 more
Adenosine-AMP exchange activity is an integral part of the mammalian adenosine kinase.
Biochemistry and molecular biology international | 1996-06-01 | PMID 8828800
Gupta R S
Mapping the 90 kDa heat shock protein binding region of the Ah receptor.
Biochemistry and molecular biology international | 1996-06-01 | PMID 8828811
Perdew G H, Bradfield C A
Genes: ARNT
Male sterility caused by sperm cell-specific structural abnormalities in ebouriffé, a new mutation of the house mouse.
Biology of reproduction | 1996-08-01 | PMID 8828840
Lalouette A, Lablack A, Guenet J L and 2 more
A G-1-to-A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia.
Clinical genetics | 1996-04-01 | PMID 8828981
Jensen H K, Jensen L G, Hansen P S and 3 more
Genes: LDLR
Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.
Clinical genetics | 1996-04-01 | PMID 8828982
Cenarro A, Jensen H K, Civeira F and 5 more
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.
Clinical genetics | 1996-04-01 | PMID 8828983
Fagerlund T, Ording H, Bendixen D and 3 more
Genes: RYR1
Apolipoprotein E genotypes and risk of diabetic nephropathy.
Journal of the American Society of Nephrology : JASN | 1996-07-01 | PMID 8829124
Onuma T, Laffel L M, Angelico M C and 1 more
Inhibitory effect of sarcophytol A on pancreatic carcinogenesis after initiation by N-nitrosobis(2-oxypropyl)amine in Syrian hamsters.
Pancreas | 1996-08-01 | PMID 8829183
Yokomatsu H, Hiura A, Tsutsumi M and 1 more
Genes: PCNA
Somatic mutation detection in human biomonitoring.
Pharmacology & toxicology | 1996-06-01 | PMID 8829195
Olsen L S, Nielsen L R, Nexø B A and 1 more
Frequencies and genetic diversity of major histocompatibility complex class II haplotypes in commercial turkey lines.
Poultry science | 1996-08-01 | PMID 8829225
Zhu J, Nestor K E, Tang Y
Estimates of heritabilities and genetic correlations between tibial dyschondroplasia expression and body weight at two ages in broilers.
Poultry science | 1996-08-01 | PMID 8829226
Kuhlers D L, McDaniel G R
Familial polyposis syndromes. Advances in molecular genetic characterization.
Surgical oncology clinics of North America | 1996-07-01 | PMID 8829320
Powell S M
Directed mutagenesis, Ser-56 to Pro, of Bacillus subtilis phosphatidylserine synthase drastically lowers enzymatic activity and relieves amplification toxicity in Escherichia coli.
Bioscience, biotechnology, and biochemistry | 1996-04-01 | PMID 8829529
Saha S K, Furukawa Y, Matsuzaki H and 2 more
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.
Human mutation | 1996-01-01 | PMID 8829626
Braun A, Kammerer S, Ambach H and 1 more
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.
Human mutation | 1996-01-01 | PMID 8829627
Audrézet M P, Robaszkiewicz M, Mercier B and 7 more
Mass allele detection (MAD) of rare 5-HT1A structural variants with allele-specific amplification and electrochemiluminescent detection.
Human mutation | 1996-01-01 | PMID 8829630
Bergen A, Wang C Y, Nakhai B and 1 more
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
Human mutation | 1996-01-01 | PMID 8829649
Zhuang J, Tromp G, Kuivaniemi H and 3 more
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
Human mutation | 1996-01-01 | PMID 8829650
Xu W, Astrin K H, Desnick R J
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
Human mutation | 1996-01-01 | PMID 8829652
Capon F, Levato C, Bussaglia E and 7 more
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses.
Human mutation | 1996-01-01 | PMID 8829653
De Vries E M, Ricke D O, De Vries T N and 6 more
Genes: APC
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
Human mutation | 1996-01-01 | PMID 8829654
Kim J W, Liou B B, Lai M Y and 2 more
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.
Human mutation | 1996-01-01 | PMID 8829655
Nicholls A C, Oliver J, McCarron S and 2 more
Genes: SDS
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
Human mutation | 1996-01-01 | PMID 8829656
Eiken H G, Knappskog P M, Apold J and 1 more
Genes: PAH
Fumarylacetoacetase mutations in tyrosinaemia type I.
Human mutation | 1996-01-01 | PMID 8829657
Rootwelt H, Høie K, Berger R and 1 more
Genes: FAH
Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays.
Human mutation | 1996-01-01 | PMID 8829658
Cronin M T, Fucini R V, Kim S M and 3 more
Genes: CFTR
Sensitive and fast mutation detection by solid phase chemical cleavage.
Human mutation | 1996-01-01 | PMID 8829659
Hansen L L, Justesen J, Kruse T A
Apolipoprotein E genotype and its effect on duration and severity of early and late onset Alzheimer's disease.
The British journal of psychiatry : the journal of mental science | 1995-10-01 | PMID 8829725
Norrman J, Brookes A J, Yates C and 1 more
Analysis and comparison of new candidate loci for hypertension between genetic hypertensive rat strains.
Hypertension research : official journal of the Japanese Society of Hypertension | 1996-03-01 | PMID 8829824
Takami S, Higaki J, Miki T and 5 more
An immortalized mouse neuroepithelial cell line with neuronal and glial phenotypes.
Developmental neuroscience | 1995-01-01 | PMID 8829920
Marone M, Quiñones-Jenab V, Meiners S and 3 more
The ability of beta-lactam antibiotics to select mutants with derepressed beta-lactamase synthesis from Citrobacter freundii.
The Journal of antimicrobial chemotherapy | 1995-09-01 | PMID 8830012
Stapleton P, Shannon K, Phillips I