McArdle's disease: molecular genetics and metabolic consequences of the phenotype.
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603521
Beynon R J, Bartram C, Hopkins P 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 424 of 10600
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603523
Tsujino S, Shanske S, Nonaka I and 1 more
Genes: CGA
Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603525
Raben N, Sherman J B, Adams E and 3 more
A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603526
Nakagawa C, Mineo I, Kaido M and 5 more
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603527
Tsujino S, Shanske S, DiMauro S
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603528
Tsujino S, Shanske S, Sakoda S and 2 more
Genes: GCG
Lactate dehydrogenase M-subunit deficiencies: clinical features, metabolic background, and genetic heterogeneities.
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603529
Kanno T, Maekawa M
Glycogenosis type II (acid maltase deficiency).
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603530
Reuser A J, Kroos M A, Hermans M M and 5 more
Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603531
Raben N, Nichols R C, Boerkoel C and 1 more
Genes: GAA
Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy.
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603533
Harding A E, Riordan-Eva P, Govan G G
Clinicopathological features of MERRF.
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603535
Fukuhara N
Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants.
Muscle & nerve. Supplement | 1995-01-01 | PMID 7603536
Yoneda M, Miyatake T, Attardi G
Control of neuronal pathway selection by a Drosophila receptor protein-tyrosine kinase family member.
Nature | 1995-07-13 | PMID 7603568
Callahan C A, Muralidhar M G, Lundgren S E and 2 more
Factor VIII gene inversions in severe hemophilia A patients.
Pathology | 1995-01-01 | PMID 7603762
Van de Water N S, Williams R, Nelson J and 1 more
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
Pediatric research | 1995-05-01 | PMID 7603790
Ziadeh R, Hoffman E P, Finegold D N and 4 more
[Class I HLA antigens in children from families with congenital adrenal hyperplasia].
Pediatria polska | 1995-02-01 | PMID 7603792
Turowska-Heydel D, Pietrzyk J J, Turowski G
ras may mediate mammary cancer promotion by high fat.
Nutrition and cancer | 1995-01-01 | PMID 7603888
Lu J, Jiang C, Fontaine S and 1 more
Genes: GAA
Tumor suppressor gene p53 mutations in human prostate cancer.
The Prostate | 1995-07-01 | PMID 7603913
Kubota Y, Shuin T, Uemura H and 7 more
The recombination hot spot chi activates RecBCD recombination by converting Escherichia coli to a recD mutant phenocopy.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7603978
Myers R S, Kuzminov A, Stahl F W
Synergy between T-cell immunity and inhibition of paracrine stimulation causes tumor rejection.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7603979
Seung L P, Rowley D A, Dubey P and 1 more
Complete congruence between gene diversity estimates derived from genotypic data at enzyme and random amplified polymorphic DNA loci in black spruce.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7603998
Isabel N, Beaulieu J, Bousquet J
Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7604002
Rinchik E M, Carpenter D A, Handel M A
Alterations in Notch signaling in neoplastic lesions of the human cervix.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7604005
Zagouras P, Stifani S, Blaumueller C M and 2 more
Mice develop normally without the H1(0) linker histone.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7604008
Sirotkin A M, Edelmann W, Cheng G and 3 more
Relatedness threshold for the production of female sexuals in colonies of a polygynous ant, Myrmica tahoensis, as revealed by microsatellite DNA analysis.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7604024
Evans J D
Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7604033
Dunbar D R, Moonie P A, Jacobs H T and 1 more
Naturally processed peptides from two disease-resistance-associated HLA-DR13 alleles show related sequence motifs and the effects of the dimorphism at position 86 of the HLA-DR beta chain.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7604034
Davenport M P, Quinn C L, Chicz R M and 5 more
A genetic screen identifies cellular factors involved in retroviral -1 frameshifting.
Proceedings of the National Academy of Sciences of the United States of America | 1995-07-03 | PMID 7604038
Lee S I, Umen J G, Varmus H E
Prevention and early detection of cancer in women.
Seminars in oncology nursing | 1995-05-01 | PMID 7604195
Mahon S M
Common virulence factors for bacterial pathogenicity in plants and animals.
Science (New York, N.Y.) | 1995-06-30 | PMID 7604262
Rahme L G, Stevens E J, Wolfort S F and 3 more
Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells.
Science (New York, N.Y.) | 1995-06-30 | PMID 7604264
Drummond J T, Li G M, Longley M J and 1 more
Conversion of bacteriorhodopsin into a chloride ion pump.
Science (New York, N.Y.) | 1995-07-07 | PMID 7604281
Sasaki J, Brown L S, Chon Y S and 4 more
The TBP-TFIIA interaction in the response to acidic activators in vivo.
Science (New York, N.Y.) | 1995-07-07 | PMID 7604282
Stargell L A, Struhl K
Genes: TBP
HERG, a human inward rectifier in the voltage-gated potassium channel family.
Science (New York, N.Y.) | 1995-07-07 | PMID 7604285
Trudeau M C, Warmke J W, Ganetzky B and 1 more
Analysis of mutations in alleles of the fur gene from an endoprotease-deficient Chinese hamster ovary cell strain.
Somatic cell and molecular genetics | 1995-01-01 | PMID 7604355
Spence M J, Sucic J F, Foley B T and 1 more
Genes: RPE
Characterization of cDNAs coding for glucose phosphate isomerase and phosphoglycerate kinase in Chinese hamster ovary cell line CHO-K1 and identification of defects in R1.1.7, a glycolysis-deficient variant of CHO-K1.
Somatic cell and molecular genetics | 1995-01-01 | PMID 7604358
Hassan-Walker A F, Morgan M J, Faik P
Genes: GPI
Novel electrophoretic protocol for collection of mutations in the lambda light chain immunoglobulin gene in a human B-lymphoblastoid cell strain.
Teratogenesis, carcinogenesis, and mutagenesis | 1995-01-01 | PMID 7604391
McFarland R D, Smith G J
T-cell large granular lymphocytic leukemia following orthotopic liver transplantation.
American journal of hematology | 1995-07-01 | PMID 7604814
Feher O, Barilla D, Locker J and 3 more
Factor V Leiden (FVQ 506) is common in a Brazilian population.
American journal of hematology | 1995-07-01 | PMID 7604818
Arruda V R, Annichino-Bizzacchi J M, Costa F F and 1 more
Genes: APC
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.
American journal of medical genetics | 1995-05-08 | PMID 7604844
Bacino C A, Schreck R, Fischel-Ghodsian N and 3 more
46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.
American journal of medical genetics | 1995-05-08 | PMID 7604847
James C, Robson L, Jackson J and 1 more
Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter).
American journal of medical genetics | 1995-05-08 | PMID 7604850
Scheuerle A, Zenger-Hain J L, Van Dyke D L and 3 more
The HPV 16 genome induces carcinomas and T-cell lymphomas in transgenic mice.
The American journal of pathology | 1995-07-01 | PMID 7604886
Yang J T, Liu C Z, Iannaccone P
Heterogeneity in intratumor distribution of p53 mutations in human prostate cancer.
The American journal of pathology | 1995-07-01 | PMID 7604888
Mirchandani D, Zheng J, Miller G J and 4 more
Possible secular trend in the incidence of an anatomical variant: median artery of the forearm.
American journal of physical anthropology | 1995-04-01 | PMID 7604889
Henneberg M, George B J
Phenotype of dystrophinopathy in old mdx mice.
The Anatomical record | 1995-05-01 | PMID 7604983
Lefaucheur J P, Pastoret C, Sebille A
Genes: DMD
[Isolation and study of the properties of Streptomyces kanamyceticus mutants with disorders of kanamycin biosynthesis].
Antibiotiki i khimioterapiia = Antibiotics and chemoterapy [sic] | 1995-01-01 | PMID 7605128
Golets L M, Basiliia L I, Fedorenko V A
Amino acid replacements leading to temperature-sensitive defects of the NS1 protein of influenza A virus.
Archives of virology | 1995-01-01 | PMID 7605205
Ludwig S, Vogel U, Scholtissek C
Effect of apolipoprotein E and A-IV phenotypes on the low density lipoprotein response to HMG CoA reductase inhibitor therapy.
Atherosclerosis | 1995-03-01 | PMID 7605354
Ordovas J M, Lopez-Miranda J, Perez-Jimenez F and 4 more
Genes: APOE
Genetic but not diet-induced hypercholesterolemia causes low apolipoprotein A-IV level in rabbit sera.
Atherosclerosis | 1995-03-01 | PMID 7605356
Mezdour H, Yamamura T, Nomura S and 1 more
The effects of apolipoprotein E polymorphism on the distribution of lipids and lipoproteins in the Chinese population.
Atherosclerosis | 1995-04-07 | PMID 7605376
Kao J T, Tsai K S, Chang C J and 1 more
Apolipoprotein E polymorphism, serum lipids, myocardial infarction and severity of angiographically verified coronary artery disease in men and women.
Atherosclerosis | 1995-04-07 | PMID 7605379
Lehtinen S, Lehtimäki T, Sisto T and 6 more
Genes: CAD
Frequency of exon 15 missense mutation (442D:G) in cholesteryl ester transfer protein gene in hyperalphalipoproteinemic Japanese subjects.
Atherosclerosis | 1995-04-24 | PMID 7605382
Sakai N, Yamashita S, Hirano K and 7 more
Genes: CETP
Lp(a) lipoprotein, IgG, IgA and IgM antibodies to Chlamydia pneumoniae and HLA class II genotype in early coronary artery disease.
Atherosclerosis | 1995-04-24 | PMID 7605385
Dahlén G H, Boman J, Birgander L S and 1 more
Genes: CAD
Apolipoprotein E and atherosclerosis in Alaska Natives.
Atherosclerosis | 1995-04-24 | PMID 7605388
Scheer W D, Boudreau D A, Malcom G T and 1 more
Dynamics of unconditionally deleterious mutations: Gaussian approximation and soft selection.
Genetical research | 1995-04-01 | PMID 7605513
Kondrashov A S
A general model for the evolution of recombination.
Genetical research | 1995-04-01 | PMID 7605514
Barton N H
Characterization of a murine p53ser246 mutant equivalent to the human p53ser249 associated with hepatocellular carcinoma and aflatoxin exposure.
Molecular carcinogenesis | 1995-06-01 | PMID 7605578
Ghebranious N, Knoll B J, Wu H and 2 more
Dissemination and tissue invasiveness in murine acute leukemia associated with acquisition of p53 mutation and loss of wild-type p53.
Molecular carcinogenesis | 1995-06-01 | PMID 7605579
Hsiao M, Wu C Y, Low J and 3 more
Mutational specificity of 2-amino-3-methylimidazo-[4,5-f]quinoline in the hprt locus of CHO-K1 cells.
Molecular carcinogenesis | 1995-06-01 | PMID 7605580
Lee H, Shih M K
Abnormalities of the RB1 and DCC tumor suppressor genes: uncommon in human pancreatic adenocarcinoma.
Molecular carcinogenesis | 1995-06-01 | PMID 7605581
Barton C M, McKie A B, Hogg A and 5 more
Genes: DCC
N-methylnitrosourea-induced Ki-ras codon 12 mutations: early events in mouse thymic lymphomas.
Molecular carcinogenesis | 1995-06-01 | PMID 7605584
Newcomb E W, Bayona W, Pisharody S
Genes: NMU
Analysis of v-Ha-ras and v-fos oncogene transduction into a mouse epidermal cell line with "initiated" phenotype in culture but normal skin phenotype in vivo.
Molecular carcinogenesis | 1995-06-01 | PMID 7605585
Ueda M, Kawamura H, Sutter C and 3 more
Positron emission tomography in familial Alzheimer disease.
Alzheimer disease and associated disorders | 1995-01-01 | PMID 7605617
Kennedy A M, Rossor M N, Frackowiak R S
An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria.
Neuron | 1995-06-01 | PMID 7605627
Wong P C, Pardo C A, Borchelt D R and 6 more
Genes: SOD1
Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres.
Neuron | 1995-06-01 | PMID 7605629
Xuan S, Baptista C A, Balas G and 3 more
Complementary roles of BDNF and NT-3 in vestibular and auditory development.
Neuron | 1995-06-01 | PMID 7605630
Ernfors P, Van De Water T, Loring J and 1 more
Genes: BDNF
Subunit composition of minK potassium channels.
Neuron | 1995-06-01 | PMID 7605639
Wang K W, Goldstein S A
Contribution of lethal mutations to excision assays for tumour cell survival.
Acta oncologica (Stockholm, Sweden) | 1995-01-01 | PMID 7605657
Chatterjee A, Hodgkiss R J, Rojas A
DNA fingerprinting study on the intraspecific variation and the origin of Prunus yedoensis (Someiyoshino).
Idengaku zasshi | 1995-04-01 | PMID 7605671
Innan H, Terauchi R, Miyashita N T and 1 more
Epistatic interactions among the P element-induced high interspecific crossability strains in Drosophila melanogaster.
Idengaku zasshi | 1995-04-01 | PMID 7605673
Matsubayashi H, Tomaru M, Sawa M and 2 more
Molecular and genetic dissection of a reproductive isolation gene, zygotic hybrid rescue, of Drosophila melanogaster.
Idengaku zasshi | 1995-04-01 | PMID 7605674
Sawamura K, Fujita A, Yokoyama R and 4 more
Matrix deposition by a calcifying human osteogenic sarcoma cell line (SAOS-2).
Bone | 1995-04-01 | PMID 7605701
McQuillan D J, Richardson M D, Bateman J F
Long bone geometry and strength in adult BMP-5 deficient mice.
Bone | 1995-04-01 | PMID 7605705
Mikić B, van der Meulen M C, Kingsley D M and 1 more
Amelogenesis imperfecta in triplets: a unique family record.
British dental journal | 1995-06-24 | PMID 7605723
Holroyd I, Lench N, Winter G B
Exogenous retinoic acid causes specific alterations in the development of the midbrain and hindbrain of the zebrafish embryo including positional respecification of the Mauthner neuron.
Mechanisms of development | 1995-03-01 | PMID 7605750
Hill J, Clarke J D, Vargesson N and 2 more
The polymorphic human TLX-B/CD46/MCP system and its implications in transplantation and reproduction.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1995-04-01 | PMID 7605772
Petrányi G, Padányi A, Szelényi J and 7 more
Analysis of HLA-class II DQA1, DQB1, DRB1 and DPB1 in Italian multiple sclerosis patients.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1995-04-01 | PMID 7605774
Ciusani E, Allen M, Sandberg-Wollheim M and 5 more
An analysis of HLA class II gene polymorphism in British and Greek idiopathic membranous nephropathy patients.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1995-04-01 | PMID 7605775
Vaughan R W, Tighe M R, Boki K and 5 more
Absence of TAP 2D in Yoruba Nigerians.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1995-04-01 | PMID 7605776
Awomoyi A A, Donn R P, Davies E J and 3 more
Genes: TAP1
Immunogenetic analysis of HLA-DR10 homozygous individuals.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1995-04-01 | PMID 7605777
Young N T, Thompson J, Gibson K and 2 more
Study of HLA class I/IL and T lymphocyte subsets in Kuwaiti vitiligo patients.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1995-04-01 | PMID 7605779
al-Fouzan A, al-Arbash M, Fouad F and 3 more
Molecular typing and haplotypic associations of HLA-B*44 subtypes.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1995-04-01 | PMID 7605780
Varney M D, Boyle A J, Tait B D
Factors XWenatchee I and II: compound heterozygosity involving two variant proteins.
Biochimica et biophysica acta | 1995-06-09 | PMID 7605799
Kim D J, Thompson A R, Nash D R and 1 more
Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA.
Biochimica et biophysica acta | 1995-06-09 | PMID 7605802
Houstĕk J, Klement P, Hermanská J and 4 more
Assessment of collagen type II induced arthritis in mice by whole blood chemiluminescence.
Autoimmunity | 1994-01-01 | PMID 7605867
Miesel R, Dietrich A, Ulbrich N and 2 more
Genetic susceptibility markers in Danish patients with type 1 (insulin-dependent) diabetes--evidence for polygenicity in man. Danish Study Group of Diabetes in Childhood.
Autoimmunity | 1994-01-01 | PMID 7605869
Pociot F, Rønningen K S, Bergholdt R and 5 more
Genes: TNF
The role of hsp90 in SLE.
Autoimmunity | 1994-01-01 | PMID 7605872
Latchman D S, Isenberg D A
Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1995-04-01 | PMID 7605880
Millar D S, Bevan D, Chitolie A and 4 more
Genes: PROC
Heterogeneous expression of Epstein-Barr virus latent proteins in endemic Burkitt's lymphoma.
Blood | 1995-07-15 | PMID 7605996
Niedobitek G, Agathanggelou A, Rowe M and 6 more
Does activation of the TAL1 gene occur in a majority of patients with T-cell acute lymphoblastic leukemia? A pediatric oncology group study.
Blood | 1995-07-15 | PMID 7605997
Bash R O, Hall S, Timmons C F and 4 more
Genes: TAL1
Analysis of a family of cyclin-dependent kinase inhibitors: p15/MTS2/INK4B, p16/MTS1/INK4A, and p18 genes in acute lymphoblastic leukemia of childhood.
Blood | 1995-07-15 | PMID 7606004
Takeuchi S, Bartram C R, Seriu T and 7 more
Identification of a partial internal deletion in the RH locus causing the human erythrocyte D--phenotype.
Blood | 1995-07-15 | PMID 7606008
Huang C H, Reid M E, Chen Y
Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.
Journal of the Formosan Medical Association = Taiwan yi zhi | 1995-04-01 | PMID 7606176
Huang C C, Chu N S, Shih K D and 2 more
Transfer of plasmid-borne resistance from a multiply-resistant Staphylococcus aureus isolate, WBG1022.
Current microbiology | 1995-08-01 | PMID 7606189
Udo E E, Grubb W B
No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese.
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 7606201
Sun Y, Hildesheim A, Li H and 7 more
Recently amplified satellite DNA in Callithrix argentata (primates, Platyrrhini).
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology | 1995-06-01 | PMID 7606357
Alves G, Canavez F, Seuánez H and 1 more
Immediate early genes and brain DNA remodeling in the Naples high- and low-excitability rat lines following exposure to a spatial novelty.
Brain research bulletin | 1995-01-01 | PMID 7606485
Papa M, Pellicano M P, Cerbone A and 6 more
Genes: FOS, JUN
Refractory hypertension is associated with the haptoglobin 2-2 phenotype.
Journal of cardiovascular risk | 1995-04-01 | PMID 7606649
Delanghe J R, Duprez D A, De Buyzere M L and 4 more
Substrate specificities of poly(hydroxyalkanoate)-degrading bacteria and active site studies on the extracellular poly(3-hydroxyoctanoic acid) depolymerase of Pseudomonas fluorescens GK13.
Canadian journal of microbiology | 1995-01-01 | PMID 7606661
Schirmer A, Matz C, Jendrossek D