Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family.
Acta neurologica Scandinavica | 1993-12-01 | PMID 8116340
Piccolo G, Focher F, Verri A and 4 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 566 of 10600
DNA flow cytometric analysis of hemangiopericytoma.
American journal of clinical pathology | 1994-02-01 | PMID 8116573
Finn W G, Goolsby C L, Rao M S
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.
American journal of human genetics | 1994-03-01 | PMID 8116612
Kayes L M, Burke W, Riccardi V M and 4 more
Genes: OMG
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
American journal of human genetics | 1994-03-01 | PMID 8116615
Isbrandt D, Arlt G, Brooks D A and 3 more
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.
American journal of human genetics | 1994-03-01 | PMID 8116617
Brzustowicz L M, Allitto B A, Matseoane D and 7 more
Localization of predisposition to Hodgkin disease in the HLA class II region.
American journal of human genetics | 1994-03-01 | PMID 8116619
Klitz W, Aldrich C L, Fildes N and 2 more
Identification of internal variation in the pseudoautosomal VNTR DXYS17, with nonrandom distribution of the alleles on the X and the Y chromosomes.
American journal of human genetics | 1994-03-01 | PMID 8116620
Decorte R, Wu R, Marynen P and 1 more
Genetic mapping of the BRCA1 region on chromosome 17q21.
American journal of human genetics | 1994-03-01 | PMID 8116621
Albertsen H, Plaetke R, Ballard L and 7 more
Genes: BRCA1
A radiation hybrid map of the BRCA1 region.
American journal of human genetics | 1994-03-01 | PMID 8116622
O'Connell P, Albertsen H, Matsunami N and 7 more
Genes: BRCA1
Robust variance-components approach for assessing genetic linkage in pedigrees.
American journal of human genetics | 1994-03-01 | PMID 8116623
Amos C I
Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
American journal of medical genetics | 1994-01-15 | PMID 8116672
Lewis B D, Nelson P V, Robertson E F and 1 more
Alterations in activity following alcohol administration during the third trimester equivalent in P and NP rats.
Alcoholism, clinical and experimental research | 1993-12-01 | PMID 8116838
Riley E P, Barron S, Melcer T and 1 more
Prolonged exposure of human chondrocytes to ascorbic acid modifies cellular behavior in an agarose gel.
The Anatomical record | 1994-01-01 | PMID 8116889
Aulthouse A L
Molecular genetic analysis of Turkish cystic fibrosis patients.
Annales de genetique | 1993-01-01 | PMID 8117058
Köprübasi F F, Malik N, Bösch-al-Jadooa N and 3 more
Genes: CFTR
Prenatal diagnosis of an extranumerary i(22p) with normal phenotype.
Annales de genetique | 1993-01-01 | PMID 8117060
Doneda L, Dalprà L, Tibiletti M G and 1 more
Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities.
Annales de genetique | 1993-01-01 | PMID 8117062
Pfeiffer R A, Schütz C
Deletion of 9q22: a new observation suggesting a specific phenotype.
Annales de genetique | 1993-01-01 | PMID 8117063
Pfeiffer R A, Lachmann E, Schreyer W and 1 more
Down syndrome with unusual familial translocation (1;21). A case report.
Annales de genetique | 1993-01-01 | PMID 8117064
Sayee R, Thomas I M
Translocation 4;13 with adjacent 1 and 3-1 segregations leading to complementary segmental trisomies 13.
Annales de genetique | 1993-01-01 | PMID 8117066
Barros-Nuñez P, Higareda O, Cantu J M
Familial pericentric inversion of chromosome 13, 46,XX,inv (13)(p13;q11): a new variant.
Annales de genetique | 1993-01-01 | PMID 8117067
Mohammed F M, Krishna Murthy D S, Farag T I and 3 more
Identification of two Rh mRNA isoforms expressed in immature erythroblasts.
Biochemical and biophysical research communications | 1994-02-15 | PMID 8117271
Umenishi F, Kajii E, Ikemoto S
Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with Alzheimer's disease.
Journal of neural transmission. Parkinson's disease and dementia section | 1993-01-01 | PMID 8117412
Almqvist E, Lake S, Axelman K and 2 more
Genes: APP
Alzheimer's disease: molecular genetics and transgenic animal models.
Behavioural brain research | 1993-11-30 | PMID 8117426
Lannfelt L, Folkesson R, Mohammed A H and 4 more
Genes: APP
Reproducibility of estimation of CD3, CD4 and CD8 reference ranges using different monoclonal antibodies.
Biologicals : journal of the International Association of Biological Standardization | 1993-09-01 | PMID 8117435
Dimitrova E, Taskov H, Pashov A
Deletion of residues K296-G302 from the slowly-cleared tissue-type plasminogen activator t-PA del (G) leads to partial loss of plasminogen activating activity.
Biologicals : journal of the International Association of Biological Standardization | 1993-09-01 | PMID 8117440
Dodd I, Browne M J, Chapman C G and 4 more
Taxonomic position of the rickettsiae: current knowledge.
FEMS microbiology reviews | 1994-01-01 | PMID 8117465
Drancourt M, Raoult D
Advances in Duchenne and myotonic dystrophy.
Current opinion in rheumatology | 1993-11-01 | PMID 8117531
Nicholson L V
Malignant hyperthermia and associated disorders.
Current opinion in rheumatology | 1993-11-01 | PMID 8117533
Allen G C
Allele frequency distribution of the D1S80 (pMCT118) locus polymorphism in the Japanese population by the polymerase chain reaction.
International journal of legal medicine | 1993-01-01 | PMID 8117586
Sugiyama E, Honda K, Katsuyama Y and 4 more
The distribution of HLA DQA1 and D1S80 (pMCT118) alleles and genotypes in the populations of Galicia and central Portugal.
International journal of legal medicine | 1993-01-01 | PMID 8117589
Lareu M V, Muñoz I, Pestoni C and 3 more
Prenatal paternity testing with DNA analyses.
International journal of legal medicine | 1993-01-01 | PMID 8117596
Nata M, Nagae M, Aoki Y and 2 more
Coordinate regulation of collagen II(alpha 1) and H19 expression in immortalized hamster cells.
Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research | 1993-12-01 | PMID 8117615
Owen R D, Hosoi J, Montgomery J C and 2 more
Quantitative effects of the retinoblastoma gene on mouse development and tissue-specific tumorigenesis.
Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research | 1993-12-01 | PMID 8117619
Chang C Y, Riley D J, Lee E Y and 1 more
An anion binding site in human aldose reductase: mechanistic implications for the binding of citrate, cacodylate, and glucose 6-phosphate.
Biochemistry | 1994-03-01 | PMID 8117658
Harrison D H, Bohren K M, Ringe D and 2 more
Tyrosine-48 is the proton donor and histidine-110 directs substrate stereochemical selectivity in the reduction reaction of human aldose reductase: enzyme kinetics and crystal structure of the Y48H mutant enzyme.
Biochemistry | 1994-03-01 | PMID 8117659
Bohren K M, Grimshaw C E, Lai C J and 4 more
Identification of a site necessary for allosteric regulation in T4-phage deoxycytidylate deaminase.
Biochemistry | 1994-03-01 | PMID 8117667
Moore J T, Cieśla J M, Changchien L M and 2 more
Equilibrium unfolding of yeast phosphoglycerate kinase and its mutants lacking one or both native tryptophans: a circular dichroism and steady-state and time-resolved fluorescence study.
Biochemistry | 1994-03-01 | PMID 8117679
Szpikowska B K, Beechem J M, Sherman M A and 1 more
Identification of the phenotype in psychiatric genetics.
European archives of psychiatry and clinical neuroscience | 1993-01-01 | PMID 8117756
Tsuang M T, Faraone S V, Lyons M J
Phenotype definition for genetic studies.
European archives of psychiatry and clinical neuroscience | 1993-01-01 | PMID 8117759
Rice J P
[Prolonged psychoemotional stress as an inducer of mutations in mammals and as a modifier of mutagenesis].
Biulleten' eksperimental'noi biologii i meditsiny | 1993-09-01 | PMID 8118010
Ingel' F I, Gevorkian N M, Iliushina N A and 4 more
Analysis of the Rhizobium meliloti genes exoU, exoV, exoW, exoT, and exoI involved in exopolysaccharide biosynthesis and nodule invasion: exoU and exoW probably encode glucosyltransferases.
Molecular plant-microbe interactions : MPMI | 2000-01-01 | PMID 8118055
Becker A, Kleickmann A, Küster H and 3 more
Cultivar-specific elicitation of barley defense reactions by the phytotoxic peptide NIP1 from Rhynchosporium secalis.
Molecular plant-microbe interactions : MPMI | 2000-01-01 | PMID 8118056
Hahn M, Jüngling S, Knogge W
Biological activity of Rhizobium sp. NGR234 Nod-factors on Macroptilium atropurpureum.
Molecular plant-microbe interactions : MPMI | 2000-01-01 | PMID 8118058
Relić B, Talmont F, Kopcinska J and 3 more
Plant viruses: master explorers of evolutionary space.
Current opinion in genetics & development | 1993-12-01 | PMID 8118212
Keese P, Gibbs A
Radiation of chromosome shuffles.
Current opinion in genetics & development | 1993-12-01 | PMID 8118218
Eldridge M D, Close R L
Microsatellites and their application to population genetic studies.
Current opinion in genetics & development | 1993-12-01 | PMID 8118220
Bruford M W, Wayne R K
Tobacco smoking, occupation, and p53 nuclear overexpression in early stage bladder 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 8118380
Zhang Z F, Sarkis A S, Cordon-Cardo C and 7 more
Relationship between in vivo acetylator phenotypes and cytosolic N-acetyltransferase and O-acetyltransferase activities in human uroepithelial cells.
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 8118381
Frederickson S M, Messing E M, Reznikoff C A and 1 more
Genes: OAT
Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene.
PCR methods and applications | 1993-12-01 | PMID 8118396
Leren T P, Solberg K, Rødningen O K and 3 more
Genes: LDLR
Quantitative aspects of the mutant analysis by PCR and restriction enzyme cleavage (MAPREC).
PCR methods and applications | 1993-12-01 | PMID 8118399
Lu Z, Douthitt M P, Taffs R E and 3 more
Genotyping ocular strains of Chlamydia trachomatis by single-tube nested PCR.
PCR methods and applications | 1993-12-01 | PMID 8118403
Pecharatana S, Pickett M A, Watt P J and 1 more
Improved methods for genotype determination at the ALDH2 locus using PCR by introducing the MBOII recognition site or conducting secondary PCR.
Biochemistry and molecular biology international | 1993-11-01 | PMID 8118418
Nakamura K, Iwahashi K, Matsuo Y and 2 more
Genes: ALDH2
Mutations causing Gaucher disease.
Human mutation | 1994-01-01 | PMID 8118460
Horowitz M, Zimran A
Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.
Human mutation | 1994-01-01 | PMID 8118461
Koorey D J, McCaughan G W, Trent R J and 1 more
Genes: APC
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
Human mutation | 1994-01-01 | PMID 8118463
Sidransky E, Bottler A, Stubblefield B and 1 more
Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma.
Human mutation | 1994-01-01 | PMID 8118465
Kato M V, Ishizaki K, Toguchida J and 6 more
Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks.
Human mutation | 1994-01-01 | PMID 8118466
Cai S P, Wall J, Kan Y W and 1 more
Selective breeding of rats differing in voluntary ethanol consumption.
Polish journal of pharmacology | 2000-01-01 | PMID 8118485
Bisaga A, Kostowski W
Decreased plasma concentrations of the C4B complement protein in autism.
Archives of pediatrics & adolescent medicine | 1994-02-01 | PMID 8118537
Warren R P, Burger R A, Odell D and 2 more
Possible association of p53 overexpression and mutation with high-grade chondrosarcoma.
Diagnostic molecular pathology : the American journal of surgical pathology, part B | 1993-12-01 | PMID 8118603
Dobashi Y, Sugimura H, Sato A and 6 more
Genes: CAT
"The end of innocence" revisited: resistance of herpesviruses to antiviral drugs.
Clinical microbiology reviews | 1994-01-01 | PMID 8118786
Field A K, Biron K K
Hypomethylation of CCGG sites in the 3' region of H-ras protooncogene is frequent and is associated with H-ras allele loss in non-small cell lung cancer.
Cancer research | 1994-03-01 | PMID 8118795
Vachtenheim J, Horáková I, Novotná H
Mutations of the APC gene occur during early stages of gastric adenoma development.
Cancer research | 1994-03-01 | PMID 8118796
Tamura G, Maesawa C, Suzuki Y and 5 more
Genes: APC
Allelotype of head and neck squamous cell carcinoma.
Cancer research | 1994-03-01 | PMID 8118797
Nawroz H, van der Riet P, Hruban R H and 3 more
Frequent loss of chromosome 9p21-22 early in head and neck cancer progression.
Cancer research | 1994-03-01 | PMID 8118798
van der Riet P, Nawroz H, Hruban R H and 4 more
Microsatellite instability in Muir-Torre syndrome.
Cancer research | 1994-03-01 | PMID 8118799
Honchel R, Halling K C, Schaid D J and 2 more
WAF1/CIP1 is induced in p53-mediated G1 arrest and apoptosis.
Cancer research | 1994-03-01 | PMID 8118801
el-Deiry W S, Harper J W, O'Connor P M and 7 more
Evidence for selection against human lung cancers bearing p53 missense mutations which occur within the HLA A*0201 peptide consensus motif.
Cancer research | 1994-03-01 | PMID 8118802
Wiedenfeld E A, Fernandez-Viña M, Berzofsky J A and 1 more
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.
Cancer research | 1994-03-01 | PMID 8118819
Birch J M, Hartley A L, Tricker K J and 7 more
Alterations of the TP53 gene in human gliomas.
Cancer research | 1994-03-01 | PMID 8118823
Rasheed B K, McLendon R E, Herndon J E and 4 more
Genes: MYC
Suppression of tumorigenicity of breast cancer cells by microcell-mediated chromosome transfer: studies on chromosomes 6 and 11.
Cancer research | 1994-03-01 | PMID 8118824
Negrini M, Sabbioni S, Possati L and 4 more
Glucocorticoid independence of acute thymic involution induced by lymphotoxin and estrogen.
Cellular immunology | 1994-02-01 | PMID 8118872
Hirahara H, Ogawa M, Kimura M and 5 more
Genes: TNF
Monoclonal antibody, LR-2, recognizes an immunoglobulin-linked signaling molecule on murine B cells.
Cellular immunology | 1994-02-01 | PMID 8118874
Marshall-Clarke S, Greenwood M
Proliferative and cytotoxic responses of human cord blood T lymphocytes following allogeneic stimulation.
Cellular immunology | 1994-03-01 | PMID 8118883
Risdon G, Gaddy J, Stehman F B and 1 more
A mutant of the WEHI-231 B lymphocyte line that is resistant to phorbol esters is still sensitive to antigen receptor-mediated growth inhibition.
Cellular immunology | 1994-03-01 | PMID 8118885
Haggerty H G, Monroe J G
Fpg protein protects Escherichia coli K-12 from mutation induction by the carcinogen 4-nitroquinoline 1-oxide.
Carcinogenesis | 1994-03-01 | PMID 8118923
Ruiz-Laguna J, Ariza R R, Prieto-Alamo M J and 2 more
Malignant transformation of human bronchial epithelial cells by radon-simulated alpha-particles.
Carcinogenesis | 1994-03-01 | PMID 8118924
Hei T K, Piao C Q, Willey J C and 2 more
p53 mutation is infrequent and might not give a growth advantage in rat bladder carcinogenesis in vivo.
Carcinogenesis | 1994-03-01 | PMID 8118928
Asamoto M, Mann A M, Cohen S M
The formation of commissures in the Drosophila CNS depends on the midline cells and on the Notch gene.
Development (Cambridge, England) | 1994-01-01 | PMID 8119121
Menne T V, Klämbt C
A central role for epidermal segment border cells in the induction of muscle patterning in the Drosophila embryo.
Development (Cambridge, England) | 1994-01-01 | PMID 8119132
Volk T, VijayRaghavan K
Primordial germ cell migration in Drosophila melanogaster is controlled by somatic tissue.
Development (Cambridge, England) | 1994-01-01 | PMID 8119133
Jaglarz M K, Howard K R
Functions of the cytoplasmic domain of the beta PS integrin subunit during Drosophila development.
Development (Cambridge, England) | 1994-01-01 | PMID 8119134
Grinblat Y, Zusman S, Yee G and 2 more
Purification and characterization of the periplasmic nitrate reductase from Thiosphaera pantotropha.
European journal of biochemistry | 1994-02-15 | PMID 8119278
Berks B C, Richardson D J, Robinson C and 3 more
pH-dependent processing of yeast procarboxypeptidase Y by proteinase A in vivo and in vitro.
European journal of biochemistry | 1994-02-15 | PMID 8119286
Sørensen S O, van den Hazel H B, Kielland-Brandt M C and 1 more
TESS line: a laboratory line of the musk shrew (Suncus murinus, Insectivora), triple-homozygous for the curly hair (ch), cream coat-color (cr) and red-eyed dilution (rd) genes and segregating the sucrase deficients (suc/suc).
Jikken dobutsu. Experimental animals | 1994-01-01 | PMID 8119332
Ohno T, Oda S, Namikawa T
Genetic profiles of 12 inbred rat strains for 46 microsatellite loci selected as genetic monitoring markers.
Jikken dobutsu. Experimental animals | 1994-01-01 | PMID 8119335
Hirayama N, Kuramoto T, Kondo Y and 2 more
[Establishment of hyperbilirubinuria rat mutant--a new animal model for jaundice].
Jikken dobutsu. Experimental animals | 1994-01-01 | PMID 8119341
Kawaguchi A, Nozaki Y, Hosokawa S and 3 more
Analysis of mixed foot-and-mouth disease virus infections in Saudi Arabia: prolonged circulation of an exotic serotype.
Epidemiology and infection | 1994-02-01 | PMID 8119359
Woodbury E L, Samuel A R, Knowles N J and 2 more
Genetic relationships between foot-and-mouth disease type Asia 1 viruses.
Epidemiology and infection | 1994-02-01 | PMID 8119360
Ansell D M, Samuel A R, Carpenter W C and 1 more
Ribotyping of Staphylococcus aureus: an assessment using well-defined strains.
Epidemiology and infection | 1994-02-01 | PMID 8119368
Richardson J F, Aparicio P, Marples R R and 1 more
Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: ultrastructural aspect of the red cell skeleton.
European journal of haematology | 1994-02-01 | PMID 8119389
Maréchal J, Wada H, Koffa T and 7 more
A phorbol ester-responsive PKC-zeta generated by fusion with the regulatory domain of PKC-delta.
FEBS letters | 1994-02-28 | PMID 8119399
Goode N T, Parker P J
Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist.
Gastroenterology | 1994-03-01 | PMID 8119534
Mansfield J C, Holden H, Tarlow J K and 5 more
Lipid intolerance does not account for susceptibility to alcoholic and gallstone pancreatitis.
Gastroenterology | 1994-03-01 | PMID 8119545
Haber P S, Wilson J S, Apte M V and 3 more
[Is selection an alternative or complementary to variation].
Genetika | 1993-12-01 | PMID 8119575
Trut L N
[Meiotic crossing over--not the only source of recombinants in man].
Genetika | 1993-12-01 | PMID 8119579
Gorlov I P, Chepkasov I L, Kalinina O Iu and 1 more
[Distribution of serum protein antigens of the Gm and Inv systems in the Armenian population].
Genetika | 1993-12-01 | PMID 8119581
Nersisian V M, Musaelian N O, Marirosian I G
[Feasibility of monogenic control of blood cholesterol content for the Kirghiz population].
Genetika | 1993-12-01 | PMID 8119584
Ismanilova Ch S, Ginzburg E Kh, Aksenovich T I and 3 more
[Correlative variability of quantitative and qualitative characters in a single-locus diallelic model].
Genetika | 1993-12-01 | PMID 8119585
Bezrukov V F
Coinfection study of precore mutant and wild-type hepatitis B-like virus in ducklings.
Hepatology (Baltimore, Md.) | 1994-03-01 | PMID 8119680
Chuang W L, Omata M, Ehata T and 4 more