Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.
Journal of inherited metabolic disease | 1990-01-01 | PMID 2246852
Picat C, Delfau M H, de Rooij F W and 5 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 332 of 10600
Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
Journal of inherited metabolic disease | 1990-01-01 | PMID 2246854
Gordon R B, Sculley D G, Dawson P A and 2 more
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.
Journal of inherited metabolic disease | 1990-01-01 | PMID 2246858
Cotton R G
Quantification analysis of 5'-splice signal sequences in mRNA precursors. Mutations in 5'-splice signal sequence of human beta-globin gene and beta-thalassemia.
Journal of theoretical biology | 1990-08-23 | PMID 2246900
Iida Y
Genes: AGT
Role of IME1 expression in regulation of meiosis in Saccharomyces cerevisiae.
Molecular and cellular biology | 1990-12-01 | PMID 2247050
Smith H E, Su S S, Neigeborn L and 2 more
Genes: SPO11
A suppressor of an RNA polymerase II mutation of Saccharomyces cerevisiae encodes a subunit common to RNA polymerases I, II, and III.
Molecular and cellular biology | 1990-12-01 | PMID 2247052
Archambault J, Schappert K T, Friesen J D
Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange.
Molecular and cellular biology | 1990-12-01 | PMID 2247054
Thompson L H, Brookman K W, Jones N J and 2 more
Genes: XRCC1
Effect of 5' splice site mutations on splicing of the preceding intron.
Molecular and cellular biology | 1990-12-01 | PMID 2247057
Talerico M, Berget S M
gcr2, a new mutation affecting glycolytic gene expression in Saccharomyces cerevisiae.
Molecular and cellular biology | 1990-12-01 | PMID 2247062
Uemura H, Fraenkel D G
Genes: ENO1
Characterization of TUP1, a mediator of glucose repression in Saccharomyces cerevisiae.
Molecular and cellular biology | 1990-12-01 | PMID 2247069
Williams F E, Trumbly R J
Sequence and functional similarity between a yeast ribosomal protein and the Escherichia coli S5 ram protein.
Molecular and cellular biology | 1990-12-01 | PMID 2247072
All-Robyn J A, Brown N, Otaka E and 1 more
Characterization of RAD9 of Saccharomyces cerevisiae and evidence that its function acts posttranslationally in cell cycle arrest after DNA damage.
Molecular and cellular biology | 1990-12-01 | PMID 2247073
Weinert T A, Hartwell L H
Characterization of VPS34, a gene required for vacuolar protein sorting and vacuole segregation in Saccharomyces cerevisiae.
Molecular and cellular biology | 1990-12-01 | PMID 2247081
Herman P K, Emr S D
Increased rate of base substitution in a hamster mutator strain obtained during serial selection for gene amplification.
Molecular and cellular biology | 1990-12-01 | PMID 2247084
Caligo M A, Armstrong W, Rossiter B J and 1 more
Genetic evidence equating SRY and the testis-determining factor.
Nature | 1990-11-29 | PMID 2247149
Berta P, Hawkins J R, Sinclair A H and 4 more
Genes: SRY
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.
Nature | 1990-11-29 | PMID 2247151
Jäger R J, Anvret M, Hall K and 1 more
Genes: SRY
Fitness of RNA virus decreased by Muller's ratchet.
Nature | 1990-11-29 | PMID 2247152
Chao L
Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).
Neurology | 1990-12-01 | PMID 2247230
Munsat T L, Skerry L, Korf B and 7 more
Composition of eggs from dwarf and normal chickens before incubation and at hatching in lines selected for 56-day body weight.
Poultry science | 1990-09-01 | PMID 2247426
Nir I, Dunnington E A, Siegel P B
Mutations in genetic variants of human serum albumin found in Italy.
Proceedings of the National Academy of Sciences of the United States of America | 1990-11-01 | PMID 2247440
Galliano M, Minchiotti L, Porta F and 5 more
Effects on adaptedness of variations in ribosomal DNA copy number in populations of wild barley (Hordeum vulgare ssp. spontaneum).
Proceedings of the National Academy of Sciences of the United States of America | 1990-11-01 | PMID 2247443
Zhang Q F, Saghai Maroof M A, Allard R W
The biology of cancer metastasis.
Progress in clinical and biological research | 1990-01-01 | PMID 2247490
Price J E
Pseudo-random mating systems for 3-allele loci.
Proceedings of the National Science Council, Republic of China. Part B, Life sciences | 1990-04-01 | PMID 2247533
Tai J J
N-ras 61 oncogene mutations in Hürthle cell tumors.
Surgery | 1990-12-01 | PMID 2247846
Schark C, Fulton N, Jacoby R F and 3 more
Genes: CGA
Effect of gene conversion on variances of digenic identity measures.
Theoretical population biology | 1990-10-01 | PMID 2247851
Basten C J, Weir B S
Evolution of the segregation ratio: modification of gene conversion and meiotic drive.
Theoretical population biology | 1990-10-01 | PMID 2247852
Bengtsson B O, Uyenoyama M K
Immunohistological patterns of blood group ABO and type 1 chain (Lewis a Lewis b) and type 2 chain (H-2, Y) antigens in normal uterine cervix.
Tissue antigens | 1990-07-01 | PMID 2247887
Torrado J, Gutierrez Hoyos A, Blasco E and 2 more
Genes: ABO
Phenotypical and genotypical characteristics of paired isolates of Pasteurella multocida from the lungs and kidneys of slaughtered pigs.
Veterinary microbiology | 1990-10-01 | PMID 2247937
Buttenschøn J, Rosendal S
The impact of phenotypic variation on genetic analysis: application to X-linkage in manic-depressive illness.
Acta psychiatrica Scandinavica | 1990-09-01 | PMID 2248044
Baron M, Hamburger R, Sandkuyl L A and 5 more
Comparison of the pharmacokinetics of moclobemide in poor and efficient metabolizers of debrisoquine.
Acta psychiatrica Scandinavica. Supplementum | 1990-01-01 | PMID 2248089
Schoerlin M P, Blouin R A, Pfefen J P and 1 more
Clinical diagnosis of partial duplication 7q.
American journal of medical genetics | 1990-10-01 | PMID 2248294
Bartsch O, Kalbe U, Ngo T K and 2 more
Clinical manifestation of prenatal exposure to valproic acid using case reports and epidemiologic information.
American journal of medical genetics | 1990-10-01 | PMID 2248297
Martínez-Frías M L
Severe hypertension after liver transplantation in alpha 1 antitrypsin deficiency.
Archives of disease in childhood | 1990-11-01 | PMID 2248532
Noble-Jamieson G, Barnes N D, Thiru S and 1 more
Haemophilus aphrophilus isolated from blood.
Zentralblatt fur Bakteriologie : international journal of medical microbiology | 1990-09-01 | PMID 2248686
Aldová E, Márová J, Stafová J and 5 more
Does the T gene determine the anteroposterior axis of a mouse embryo?
Idengaku zasshi | 1990-10-01 | PMID 2248783
Yanagisawa K O
Genetic analysis of variation in the number of primary spermatocytes per cyst in Drosophila virilis.
Idengaku zasshi | 1990-10-01 | PMID 2248785
Oguma Y, Kurokawa H
Estimating the contribution of engineered surface electrostatic interactions to protein stability by using double-mutant cycles.
Biochemistry | 1990-10-09 | PMID 2248951
Serrano L, Horovitz A, Avron B and 2 more
Organization, structure, and polymorphisms of the human profilaggrin gene.
Biochemistry | 1990-10-09 | PMID 2248957
Gan S Q, McBride O W, Idler W W and 2 more
Genes: CAT
Nucleotide sequence and expression of the isoamylase gene from an isoamylase-hyperproducing mutant, Pseudomonas amyloderamosa JD210.
Biochimica et biophysica acta | 1990-11-30 | PMID 2248978
Chen J H, Chen Z Y, Chow T Y and 3 more
Chemotaxis of bacteria in glass capillary arrays. Escherichia coli, motility, microchannel plate, and light scattering.
Biophysical journal | 1990-10-01 | PMID 2248995
Berg H C, Turner L
Prediction of the halothane (Hal) genotypes by means of linked marker loci (Phi, Po2, Pgd) in Quebec Landrace pigs.
Canadian journal of veterinary research = Revue canadienne de recherche veterinaire | 1990-10-01 | PMID 2249173
Doizé F, Roux I, Martineau-Doizé B and 1 more
A recessive mutant allele of the HNM1 gene of Saccharomyces cerevisiae is responsible for hyper-resistance to nitrogen mustard.
Current genetics | 1990-10-01 | PMID 2249250
Haase E, Brendel M
The recombinational hot spot mutation ade6-M26 of Schizosaccharomyces pombe stimulates recombination at sites in a nearby interval.
Current genetics | 1990-10-01 | PMID 2249251
Grimm C, Munz P, Kohli J
Dendritic cells of the skin.
Dermatologic clinics | 1990-10-01 | PMID 2249359
Stingl G
Structure of an invertebrate gene encoding cytoplasmic intermediate filament (IF) proteins: implications for the origin and the diversification of IF proteins.
The EMBO journal | 1990-12-01 | PMID 2249666
Dodemont H, Riemer D, Weber K
Molecular analysis of an aurea photosynthetic mutant (Su/Su) in tobacco: LHCP depletion leads to pleiotropic mutant phenotypes.
The EMBO journal | 1990-12-01 | PMID 2249672
Kawata E E, Cheung A Y
Diversity studies of Salmonella incidents in some domestic livestock and their potential relevance as indicators of niche width.
Epidemiology and infection | 1990-12-01 | PMID 2249714
Hunter P R, Izsák J
Evaluation of numerical typing systems for Escherichia coli using the API 50 CH and the PhP-EC systems as models.
Epidemiology and infection | 1990-12-01 | PMID 2249716
Kühn I, Brauner A, Möllby R
Differentiation of Achromobacter-like strains from human blood by DNA restriction endonuclease digest and ribosomal RNA gene probe patterns.
Epidemiology and infection | 1990-12-01 | PMID 2249718
Holmes B, Costas M, Wood A C and 2 more
The translational activator GCN3 functions downstream from GCN1 and GCN2 in the regulatory pathway that couples GCN4 expression to amino acid availability in Saccharomyces cerevisiae.
Genetics | 1990-11-01 | PMID 2249755
Hannig E M, Williams N P, Wek R C and 1 more
Genes: GCN1
Meiosis in asynaptic yeast.
Genetics | 1990-11-01 | PMID 2249756
Rockmill B, Roeder G S
Essential genes in the hDf6 region of chromosome I in Caenorhabditis elegans.
Genetics | 1990-11-01 | PMID 2249758
Howell A M, Rose A M
Mutations affecting the meiotic and mitotic divisions of the early Caenorhabditis elegans embryo.
Genetics | 1990-11-01 | PMID 2249759
Mains P E, Kemphues K J, Sprunger S A and 2 more
The exuperantia gene is required for Drosophila spermatogenesis as well as anteroposterior polarity of the developing oocyte, and encodes overlapping sex-specific transcripts.
Genetics | 1990-11-01 | PMID 2249760
Hazelrigg T, Watkins W S, Marcey D and 3 more
A hybrid dysgenesis syndrome in Drosophila virilis.
Genetics | 1990-11-01 | PMID 2249761
Lozovskaya E R, Scheinker V S, Evgen'ev M B
Genetics of 51D-52A, a region containing several maternal-effect genes and two maternal-specific transcripts in Drosophila.
Genetics | 1990-11-01 | PMID 2249762
Underwood E M, Briot A S, Doll K Z and 5 more
Genetic and molecular organization of ribosomal DNA (rDNA) variants in wild and cultivated barley.
Genetics | 1990-11-01 | PMID 2249766
Allard R W, Saghai Maroof M A, Zhang Q and 1 more
Use of a controlled-nutrient experiment to test heterosis hypotheses.
Genetics | 1990-11-01 | PMID 2249767
Griffing B
Using molecular markers to estimate quantitative trait locus parameters: power and genetic variances for unreplicated and replicated progeny.
Genetics | 1990-11-01 | PMID 2249768
Knapp S J, Bridges W C
Isolation of two developmentally regulated genes involved in spore wall maturation in Saccharomyces cerevisiae.
Genes & development | 1990-10-01 | PMID 2249774
Briza P, Breitenbach M, Ellinger A and 1 more
Conditional expression of foreign genes by temperature-sensitive mutants of vaccinia virus.
Gene | 1990-11-15 | PMID 2249782
Chambers T M, Essani K, Webster R G
Promoter sequence and chromosomal organization of the genes encoding glycophorins A, B and E.
Gene | 1990-11-15 | PMID 2249783
Vignal A, London J, Rahuel C and 1 more
Genomic analysis of T-cell receptor and immunoglobulin antigen receptor genes and breakpoint cluster regions in gastrointestinal lymphomas.
Human pathology | 1990-12-01 | PMID 2249841
Hey M M, Feller A C, Kirchner T and 2 more
Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
Genomics | 1990-10-01 | PMID 2249848
Lamhonwah A M, Troxel C E, Schuster S and 1 more
Genes: PCCB, PCCA
Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.
Genomics | 1990-10-01 | PMID 2249855
Jokiaho I, Puhakka L, Santavuori P and 3 more
Genes: CLN3, NCL
Sequence analysis and HLA-DR genotyping of a novel HLA-DRw14 allele.
Immunogenetics | 1990-01-01 | PMID 2249880
Obata F, Ito I, Ito K and 6 more
Experimental allergic orchitis in mice. VI. Recombinations within the H-2S/H-2D interval define the map position of the H-2-associated locus controlling disease susceptibility.
Immunogenetics | 1990-01-01 | PMID 2249881
Teuscher C, Gasser D L, Woodward S R and 1 more
HLA antibody responses in HLA class I transgenic mice.
Immunogenetics | 1990-01-01 | PMID 2249882
Tahara T, Yang S Y, Khan R and 3 more
Anionic site interactions in human butyrylcholinesterase disrupted by two single point mutations.
The Journal of biological chemistry | 1990-12-05 | PMID 2249982
Neville L F, Gnatt A, Padan R and 2 more
Isolation of polyamine transport-deficient mutants of Escherichia coli and cloning of the genes for polyamine transport proteins.
The Journal of biological chemistry | 1990-12-05 | PMID 2249996
Kashiwagi K, Hosokawa N, Furuchi T and 4 more
Comparative platelet binding and kinetic studies with normal and variant factor IXa molecules.
The Journal of biological chemistry | 1990-12-05 | PMID 2249997
Ahmad S S, Rawala-Sheikh R, Monroe D M and 2 more
Regulation of the maltose transport system of Escherichia coli by the glucose-specific enzyme III of the phosphoenolpyruvate-sugar phosphotransferase system. Characterization of inducer exclusion-resistant mutants and reconstitution of inducer exclusion in proteoliposomes.
The Journal of biological chemistry | 1990-12-05 | PMID 2250006
Dean D A, Reizer J, Nikaido H and 1 more
Rhizobium leguminosarum exoB mutants are deficient in the synthesis of UDP-glucose 4'-epimerase.
The Journal of biological chemistry | 1990-12-05 | PMID 2250016
Canter Cremers H C, Batley M, Redmond J W and 6 more
RNA splicing in Chlamydomonas chloroplasts. Self-splicing of 23 S preRNA.
The Journal of biological chemistry | 1990-12-05 | PMID 2250018
Herrin D L, Chen Y F, Schmidt G W
Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse.
The Journal of heredity | 2000-01-01 | PMID 2250094
Coleman D L, Eicher E M
Expression of the Axd (axial defects) mutation in the mouse is insensitive to retinoic acid at low dose.
The Journal of experimental zoology | 1990-12-01 | PMID 2250167
Haviland M B, Essien F B
Cellular and developmental biological aspects of bovine meiotic maturation, fertilization, and preimplantation embryogenesis in vitro.
Journal of electron microscopy technique | 1990-12-01 | PMID 2250185
Van Blerkom J, Bell H, Weipz D
A genotypic study of low grade B-cell lymphomas, including lymphomas of mucosa associated lymphoid tissue (MALT).
The Journal of pathology | 1990-10-01 | PMID 2250191
Wotherspoon A C, Pan L X, Diss T C and 1 more
Schedule dependence for cisplatin and etoposide multifraction treatments of spheroids.
Journal of the National Cancer Institute | 1990-12-05 | PMID 2250300
Durand R E, Vanderbyl S L
A mutant protein of human interleukin-1 beta with immunostimulatory but not pyrogenic potency.
Life sciences | 1990-01-01 | PMID 2250583
Nakai S, Kawai K, Hirai Y and 1 more
The principles of predicting the individual risk of silicosis and silicotuberculosis.
La Medicina del lavoro | 2000-01-01 | PMID 2250613
Polzik E V, Katsnelson B A, Kochneva MYu and 1 more
Isolation and molecular characterisation of the benzoate-para-hydroxylase gene (bphA) of Aspergillus niger: a member of a new gene family of the cytochrome P450 superfamily.
Molecular & general genetics : MGG | 1990-09-01 | PMID 2250647
van Gorcom R F, Boschloo J G, Kuijvenhoven A and 6 more
Transformation and recombination in rad mutants of Saccharomyces cerevisiae.
Molecular & general genetics : MGG | 1990-09-01 | PMID 2250651
Simon J R, Moore P D
Genes: RAD50, RAD52
Ammonia regulation of nod genes in Bradyrhizobium japonicum.
Molecular & general genetics : MGG | 1990-09-01 | PMID 2250656
Wang S P, Stacey G
Cloning and nucleotide sequence of the Salmonella typhimurium pepM gene.
Molecular & general genetics : MGG | 1990-09-01 | PMID 2250660
Movva N R, Semon D, Meyer C and 4 more
[Deletion analysis of the SUP2 gene in Saccharomyces cerevisiae].
Molekuliarnaia biologiia | 2000-01-01 | PMID 2250671
Kushnirov V V, Ter-Avanesian M D, Dagkesamanskaia A R and 3 more
Novel primitive lymphoid tumours induced in transgenic mice by cooperation between myc and bcl-2.
Nature | 1990-11-22 | PMID 2250704
Strasser A, Harris A W, Bath M L and 1 more
Analysis by pulsed field gel electrophoresis reveals complex rearrangements in two MET alleles in a chemically-treated human cell line, MNNG-HOS.
Oncogene | 1990-10-01 | PMID 2250912
Testa J R, Park M, Blair D G and 3 more
Genes: MET, TPR
Evidence that p53 behaves as a tumour suppressor gene in sporadic breast tumours.
Oncogene | 1990-10-01 | PMID 2250913
Prosser J, Thompson A M, Cranston G and 1 more
Allele loss from chromosome 17 in ovarian cancer.
Oncogene | 1990-10-01 | PMID 2250914
Russell S E, Hickey G I, Lowry W S and 2 more
Allele losses on chromosome 17 in human epithelial ovarian carcinoma.
Oncogene | 1990-10-01 | PMID 2250917
Eccles D M, Cranston G, Steel C M and 2 more
Initiation of transcription of the erythroid promoter of the porphobilinogen deaminase gene is regulated by a cis-acting sequence around the cap site.
Nucleic acids research | 1990-11-25 | PMID 2251113
Beaupain D, Eléouët J F, Roméo P H
Formation of intramolecular triplex in homopurine-homopyrimidine mirror repeats with point substitutions.
Nucleic acids research | 1990-11-25 | PMID 2251122
Belotserkovskii B P, Veselkov A G, Filippov S A and 3 more
[Hodgkin's disease and non-Hodgkin's lymphoma in 2 sisters].
Polskie Archiwum Medycyny Wewnetrznej | 1990-07-01 | PMID 2251217
Sciborski R, Haus O, Matej H and 2 more
Resolution of hypervariable regions in T-cell receptor beta chains by a modified Wu-Kabat index of amino acid diversity.
Proceedings of the National Academy of Sciences of the United States of America | 1990-12-01 | PMID 2251255
Jores R, Alzari P M, Meo T
mutA and mutC: two mutator loci in Escherichia coli that stimulate transversions.
Proceedings of the National Academy of Sciences of the United States of America | 1990-12-01 | PMID 2251267
Michaels M L, Cruz C, Miller J H
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
Proceedings of the National Academy of Sciences of the United States of America | 1990-12-01 | PMID 2251268
Kelly D P, Whelan A J, Ogden M L and 6 more
Nucleotides that determine Escherichia coli tRNA(Arg) and tRNA(Lys) acceptor identities revealed by analyses of mutant opal and amber suppressor tRNAs.
Proceedings of the National Academy of Sciences of the United States of America | 1990-12-01 | PMID 2251270
McClain W H, Foss K, Jenkins R A and 1 more
[Variant forms of von Willebrand's disease].
Terapevticheskii arkhiv | 1990-01-01 | PMID 2251672
Papaian L P, Golovina O G
Histone deletion mutants challenge the molecular clock hypothesis.
Trends in biochemical sciences | 1990-10-01 | PMID 2251727
Behe M J