Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1.
Acta paediatrica Japonica : Overseas edition | 1996-06-01 | PMID 8741312
Ida H, Rennert O M, Ito T 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 728 of 10600
[Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].
Rinsho shinkeigaku = Clinical neurology | 1996-03-01 | PMID 8741343
Endo T, Akaike M, Kawai H and 2 more
Genes: DMD
[Familial amyloidosis, Finnish type with marked anhidrosis].
Rinsho shinkeigaku = Clinical neurology | 1996-03-01 | PMID 8741346
Ishiguchi H, Shimoya K, Ohnishi A and 3 more
[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].
Rinsho shinkeigaku = Clinical neurology | 1996-03-01 | PMID 8741350
Maruta K, Ohi T, Ohdo S and 3 more
Genes: HLX
[A case of Kennedy-Alter-Sung (KAS) syndrome presenting as hypersexuality and elevated serum CK: usefulness of genetic analysis].
Rinsho shinkeigaku = Clinical neurology | 1996-03-01 | PMID 8741352
Hokezu Y, Yanai S, Nagai M and 2 more
Genes: GPT
[Analysis of mutations and heteroplasmy at mitochondrial DNA 11778 using non-RI single strand conformation polymorphisms in Leber's hereditary optic neuropathy].
Rinsho byori. The Japanese journal of clinical pathology | 1996-07-01 | PMID 8741498
Toyo-Oka Y, Wada C, Yamabe H and 7 more
Allelotype analysis in mouse hepatocellular carcinomas; frequent homozygous deletion of mouse homolog of p16/CDKN2 gene on chromosome 4 in culture.
Biological & pharmaceutical bulletin | 1996-05-01 | PMID 8741575
Miyasaka K, Fukui T, Kitagawa T
[Role of the p53 gene in apoptosis].
Nihon rinsho. Japanese journal of clinical medicine | 1996-07-01 | PMID 8741682
Takahashi R, Shinohara H
[Analysis of HCV infection in patients with hemophilia].
Kansenshogaku zasshi. The Journal of the Japanese Association for Infectious Diseases | 1996-06-01 | PMID 8741711
Iguchi T, Ueda Y
Increased acetylcholinesterase activity in the CSF of Alzheimer patients carrying apolipoprotein epsilon4 allele.
Neuroreport | 1995-12-15 | PMID 8741753
Soininen H, Lehtovirta M, Helisalmi S and 3 more
Dopamine D4 receptor variant in Africans, D4valine194glycine, is insensitive to dopamine and clozapine: report of a homozygous individual.
American journal of medical genetics | 1996-01-22 | PMID 8741875
Liu I S, Seeman P, Sanyal S and 4 more
Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients.
American journal of medical genetics | 1996-01-22 | PMID 8741876
Brown M D, Shoffner J M, Kim Y L and 5 more
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.
American journal of medical genetics | 1996-01-02 | PMID 8741909
Witchel S S, Lee P A, Trucco M
Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm.
American journal of medical genetics | 1996-01-02 | PMID 8741912
Reish O, Berry S A, Dewald G and 1 more
HLA DRB1*DQB1* haplotype in HTLV-I-associated familial infective dermatitis may predict development of HTLV-I-associated myelopathy/tropical spastic paraparesis.
American journal of medical genetics | 1996-01-02 | PMID 8741915
LaGrenade L, Sonoda S, Miller W and 9 more
Fryns syndrome phenotype and trisomy 22.
American journal of medical genetics | 1996-01-02 | PMID 8741922
Ladonne J M, Gaillard D, Carré-Pigeon F and 1 more
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas.
American journal of medical genetics | 1996-01-02 | PMID 8741923
Hansen M, Lucarelli M J, Whiteman D A and 1 more
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Hormone research | 1996-01-01 | PMID 8742128
Rousseau F, Bonaventure J, Legeai-Mallet L and 5 more
Genes: FGFR3
Induction of tetraploid DNA content by mutant simian virus 40 T antigen that has reduced complex formation with p53.
Cytometry | 1996-02-01 | PMID 8742171
Lehman J M, Perry M B, Laffin J
Kinetics of acetyl coenzyme A:arylamine N-acetyltransferase from rapid and slow acetylator frog tissues.
Drug metabolism and disposition: the biological fate of chemicals | 1996-02-01 | PMID 8742223
Ho C C, Lin T H, Lai Y S and 3 more
Accelerated and widespread neuronal loss occurs in motor neuron degeneration (mnd) mice expressing a neurofilament-disrupting transgene.
Molecular and cellular neurosciences | 1995-12-01 | PMID 8742270
Plummer J, Peterson A, Messer A
Variability in gene expression and tumor formation within genetically homogeneous animal populations in bioassays.
Fundamental and applied toxicology : official journal of the Society of Toxicology | 1996-02-01 | PMID 8742313
Wolff G L
Phenotypic characterization and virulence of a sae- agr- mutant of Staphylococcus aureus.
Canadian journal of microbiology | 1996-02-01 | PMID 8742355
Giraudo A T, Rampone H, Calzolari A and 1 more
Association between clozapine response and allelic variation in the 5-HT2C receptor gene.
Neuroreport | 1995-12-29 | PMID 8742444
Sodhi M S, Arranz M J, Curtis D and 6 more
Depolarizing stimuli induce high levels of dopamine synthesis in fetal rat sensory neurons.
Neuroreport | 1995-12-29 | PMID 8742459
Hertzberg T, Brosenitsch T, Katz D M
The low prevalence of immunogenetic markers in Korean adult-onset IDDM patients.
Diabetes care | 1996-03-01 | PMID 8742569
Park Y, Lee H, Koh C S and 8 more
Evolution of gene families and relationship with organismal evolution: rapid divergence of tissue-specific genes in the early evolution of chordates.
Molecular biology and evolution | 1996-03-01 | PMID 8742637
Iwabe N, Kuma K, Miyata T
The impact of population expansion and mutation rate heterogeneity on DNA sequence polymorphism.
Molecular biology and evolution | 1996-03-01 | PMID 8742638
Aris-Brosou S, Excoffier L
The AINTEGUMENTA gene of Arabidopsis required for ovule and female gametophyte development is related to the floral homeotic gene APETALA2.
The Plant cell | 1996-02-01 | PMID 8742706
Klucher K M, Chow H, Reiser L and 1 more
AINTEGUMENTA, an APETALA2-like gene of Arabidopsis with pleiotropic roles in ovule development and floral organ growth.
The Plant cell | 1996-02-01 | PMID 8742707
Elliott R C, Betzner A S, Huttner E and 5 more
A soybean sucrose binding protein independently mediates nonsaturable sucrose uptake in yeast.
The Plant cell | 1996-02-01 | PMID 8742712
Overvoorde P J, Frommer W B, Grimes H D
Tandem repeats and heteroplasmy in the mitochondrial DNA control region of the loggerhead shrike (Lanius ludovicianus).
The Journal of heredity | 2000-01-01 | PMID 8742819
Mundy N I, Winchell C S, Woodruff D S
Genetic and environmental impacts on litter size and early infant survival in three species of callitrichids.
The Journal of heredity | 2000-01-01 | PMID 8742821
Jaquish C E, Cheverud J M, Tardif S D
Screen for mutations affecting development of Zebrafish neural crest.
Developmental genetics | 1996-01-01 | PMID 8742830
Henion P D, Raible D W, Beattie C E and 3 more
Analysis of HLA alleles in Japanese patients with cirrhosis due to chronic hepatitis C.
Journal of gastroenterology and hepatology | 1996-03-01 | PMID 8742920
Higashi Y, Kamikawaji N, Suko H and 1 more
[An analysis of the DNA sequence in the region of the breakpoint of the T(1;2)dor(var7) translocation inducing the mosaic-type position effect in Drosophila melanogaster].
TSitologiia i genetika | 2000-01-01 | PMID 8743012
Makunin I V, Zakharkin S O, Kokoza E V and 3 more
[The ratio of hereditary and environmental factors in the origination of noninfectious human diseases].
TSitologiia i genetika | 2000-01-01 | PMID 8743016
Ivanov V I
[A genetic analysis of the structure of hybrid populations of the green frog Rana esculenta L. complex (Amphibia, Ranidae) in Volhynia].
TSitologiia i genetika | 2000-01-01 | PMID 8743018
Mezhzherin S V, Morozov-Leonov S Iu
Genes: REL
Environmentally-regulated genes of hypertension.
Clinical and experimental hypertension (New York, N.Y. : 1993) | 2000-01-01 | PMID 8743020
Hamet P
The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.
Scandinavian journal of clinical and laboratory investigation | 1996-04-01 | PMID 8743111
Madsen K M, Hasholt L, Sørensen S A and 2 more
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene.
Thrombosis and haemostasis | 1996-04-01 | PMID 8743175
Schwartz M, Békássy A, Donnér M and 8 more
Low plasma levels of factor VIIc and antigen are more strongly associated with the 10 base pair promoter (-323) insertion than the glutamine 353 variant.
Thrombosis and haemostasis | 1996-04-01 | PMID 8743180
Humphries S, Temple A, Lane A and 3 more
HLA-B-restricted, CD8+ cytolytic human T cell clones derived from a melanoma-invaded lymph node.
Hybridoma | 1996-04-01 | PMID 8743295
Nakashima M, Watanabe T, Koprowski H and 1 more
Phage display of proteases and macromolecular inhibitors.
Methods in enzymology | 1996-01-01 | PMID 8743309
Wang C I, Yang Q, Craik C S
cAMP-regulated trafficking of epitope-tagged CFTR.
Kidney international | 1996-06-01 | PMID 8743469
Howard M, Jilling T, DuVall M and 1 more
Genes: CFTR
Renal mechanisms of genetic hypertension: from the molecular level to the intact organism.
Kidney international | 1996-06-01 | PMID 8743491
Cusi D, Bianchi G
Hypertensive glomerular damage as revealed by the expression of alpha-smooth muscle actin and non-muscle myosin.
Kidney international. Supplement | 1996-06-01 | PMID 8743546
Kimura K, Suzuki N, Ohba S and 9 more
Neuronal differentiation in the rat hippocampus involves a stage-specific reorganization of subnuclear structure both in vivo and in vitro.
The European journal of neuroscience | 1996-05-01 | PMID 8743737
Santama N, Dotti C G, Lamond A I
The consumption of tobacco, alcohol, and coffee in Caucasian male twins: a multivariate genetic analysis.
Journal of substance abuse | 1996-01-01 | PMID 8743766
Swan G E, Carmelli D, Cardon L R
Regulatory mutations in human lipoprotein disorders and atherosclerosis.
Current opinion in lipidology | 1996-04-01 | PMID 8743897
Kontula K, Ehnholm C
Paraoxonase: biochemistry, genetics and relationship to plasma lipoproteins.
Current opinion in lipidology | 1996-04-01 | PMID 8743898
Mackness M I, Mackness B, Durrington P N and 2 more
Establishment and characterization of conditionally immortalized cells from the mouse urogenital ridge.
Journal of cell science | 1996-05-01 | PMID 8743937
Capel B, Hawkins J R, Hirst E and 2 more
Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.
Genome research | 1996-05-01 | PMID 8743986
Ranta S, Lehesjoki A E, Hirvasniemi A and 5 more
A comprehensive map of the porcine genome.
Genome research | 1996-05-01 | PMID 8743988
Rohrer G A, Alexander L J, Hu Z and 3 more
An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
Genome research | 1996-05-01 | PMID 8743989
Karttunen L, Lönnqvist L, Godfrey M and 2 more
Genes: FBN1, FBN2
Hereditary factors in the etiology of neural tube defects. Results of a survey.
Pediatric neurosurgery | 1995-01-01 | PMID 8744000
Partington M D, McLone D G
The molecular basis for disease variability in cystic fibrosis.
European journal of human genetics : EJHG | 1996-01-01 | PMID 8744024
Kerem B, Kerem E
Genes: CFTR
Frequency distributions of apolipoprotein(a) kringle IV repeat alleles and their effects on lipoprotein(a) levels in Caucasian, Asian, and African populations: the distribution of null alleles is non-random.
European journal of human genetics : EJHG | 1996-01-01 | PMID 8744025
Kraft H G, Lingenhel A, Pang R W and 5 more
Relationships between polymorphism for mitochondrial deoxyribonucleic acid and yield traits of Holstein cows.
Journal of dairy science | 1996-04-01 | PMID 8744230
Boettcher P J, Freeman A E, Johnston S D and 3 more
Impacts of cytoplasmic inheritance on genetic evaluations.
Journal of dairy science | 1996-04-01 | PMID 8744232
Boettcher P J, Kuhn M T, Freeman A E
Misidentification rate in the Israeli dairy cattle population and its implications for genetic improvement.
Journal of dairy science | 1996-04-01 | PMID 8744233
Ron M, Blanc Y, Band M and 2 more
Phenotypic relationship of yield and type scores from first lactation with herd life and profitability.
Journal of dairy science | 1996-04-01 | PMID 8744235
Norman H D, Powell R L, Wright J R and 1 more
Restoration of circadian rhythmicity by transplants of SCN "micropunches".
Journal of biological rhythms | 1996-06-01 | PMID 8744243
LeSauter J, Lehman M N, Silver R
Inorganic, monovalent cations compete with agonists for the transmitter binding site of nicotinic acetylcholine receptors.
Biophysical journal | 1996-06-01 | PMID 8744302
Akk G, Auerbach A
Quorum sensing: a population-density component in the determination of bacterial phenotype.
Trends in biochemical sciences | 1996-06-01 | PMID 8744355
Swift S, Throup J P, Williams P and 2 more
Improvement of the Brucella abortus B19 vaccine by its preparation in a glycerol based medium.
Vaccine | 1996-03-01 | PMID 8744552
Sangari F J, Agüero J, García-Lobo J M
Biological markers and risk assessment.
Drug metabolism reviews | 2000-01-01 | PMID 8744599
Goldstein B D
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Australian and New Zealand journal of medicine | 1996-04-01 | PMID 8744616
Dawson P A, Cochran D A, Emmerson B T and 3 more
Genes: CBS
Detection of carriers of haemophilia A: use of bioassays and restriction fragment length polymorphisms (RFLP).
Australian and New Zealand journal of medicine | 1996-04-01 | PMID 8744618
Rudzki Z, Rodgers S E, Sheffield L J and 1 more
Preactivation and phenotype of monocytes have no influence on their elimination from culture by activated T lymphocytes.
Archivum immunologiae et therapiae experimentalis | 1995-01-01 | PMID 8744681
Pryjma J, Zembala M, Ernst M and 1 more
Genes: APC
Mechanism of antigenic variation in Shigella flexneri bacilli. III. Complement sensitivity of S. flexneri 1b strains and their 3b variants selected either as Lac+ recombinants or phage F2 resistant mutants.
Archivum immunologiae et therapiae experimentalis | 1995-01-01 | PMID 8744688
Doroszkiewicz W, Kopociński B, Lachowicz T M
Mitochondrial DNA variation in screwworm.
Medical and veterinary entomology | 1996-04-01 | PMID 8744709
Taylor D B, Szalanski A L, Peterson R D
Genetic variation in populations of Culicoides variipennis complex in the six New England states, U.S.A.
Medical and veterinary entomology | 1996-04-01 | PMID 8744711
Holbrook F R, Tabachnick W J, Brady R
DRB polymerase chain reaction fingerprinting, DQA oligotyping and mixed lymphocyte culture results in related bone marrow donors and recipients.
Archivum immunologiae et therapiae experimentalis | 1995-01-01 | PMID 8744721
Brojer E, Sankowska M, Stańczak J J and 4 more
Use of spontaneously mutated human DNA as competitive internal standard for nucleic acid quantification by reverse transcription-polymerase chain reaction (RT-PCR).
Archivum immunologiae et therapiae experimentalis | 1995-01-01 | PMID 8744725
Rudnicka L, Diaz A, Varga J and 3 more
HLA-B27 subtypes among the Chukotka Native groups.
Archivum immunologiae et therapiae experimentalis | 1995-01-01 | PMID 8744728
Krylov M Y, Reveille J D, Alexeeva L I and 3 more
Role of hydrophobic amino acids at position 74 of DRB1 chain in rheumatoid arthritis.
Archivum immunologiae et therapiae experimentalis | 1995-01-01 | PMID 8744729
Cerná M, Havelka S, Ivasková E
Use of specific anti-HLA antibodies in clinical nephrology.
Archivum immunologiae et therapiae experimentalis | 1995-01-01 | PMID 8744730
Buglova S E, Levin V I, Pilotovich V S and 2 more
Phenotypic and ribosomal RNA characterization of Arcobacter species isolated from porcine aborted fetuses.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc | 1996-04-01 | PMID 8744740
Schroeder-Tucker L, Wesley I V, Kiehlbauch J A and 3 more
Phylogenetic use of noncoding regions in the genus Gentiana L.: chloroplast trnL (UAA) intron versus nuclear ribosomal internal transcribed spacer sequences.
Molecular phylogenetics and evolution | 1996-06-01 | PMID 8744760
Gielly L, Yuan Y M, Küpfer P and 1 more
Phylogeography of brown bears (Ursus arctos) of Alaska and paraphyly within the Ursidae.
Molecular phylogenetics and evolution | 1996-06-01 | PMID 8744762
Talbot S L, Shields G F
Phylogenetics and evolution of the Daphnia longispina group (Crustacea) based on 12S rDNA sequence and allozyme variation.
Molecular phylogenetics and evolution | 1996-06-01 | PMID 8744763
Taylor D J, Hebert P D, Colbourne J K
Molecular phylogenetics of honey bee subspecies (Apis mellifera L.) inferred from mitochondrial DNA sequence.
Molecular phylogenetics and evolution | 1996-06-01 | PMID 8744768
Arias M C, Sheppard W S
Racial comparison of p53 alterations in breast cancer: difference in prognostic value.
In vivo (Athens, Greece) | 2000-01-01 | PMID 8744796
Shiao Y H, Chen V W, Wu X C and 6 more
Tumor induction and tumor regression in Xiphophorus.
In vivo (Athens, Greece) | 2000-01-01 | PMID 8744798
Schartl A, Schartl M
Relationship between c-erbB-2 oncoprotein, epidermal growth factor receptor, and estrogen receptor expression in patients with ductal breast carcinoma. Association with tumor phenotypes.
In vivo (Athens, Greece) | 2000-01-01 | PMID 8744803
Harłoziñska A, Bar J K, Wenderski R and 1 more
Genes: EGFR
The retinoblastoma gene: its role in cell cycle and cancer.
In vivo (Athens, Greece) | 2000-01-01 | PMID 8744804
Giordano A, Kaiser H E
Genotypic analysis of a cluster of systemic Candida albicans infections in a neonatal intensive care unit.
The Pediatric infectious disease journal | 1995-12-01 | PMID 8745019
Faix R G, Finkel D J, Andersen R D and 1 more
Coadaptation and immunodeficiency virus: lessons from the Felidae.
Current opinion in genetics & development | 1995-12-01 | PMID 8745072
Carpenter M A, O'Brien S J
The elusive centromere: sequence divergence and functional conservation.
Current opinion in genetics & development | 1995-12-01 | PMID 8745074
Sunkel C E, Coelho P A
Phylogeny and natural history of the primate lentiviruses, SIV and HIV.
Current opinion in genetics & development | 1995-12-01 | PMID 8745080
Hirsch V M, Dapolito G, Goeken R and 1 more
LTR-retrotransposons and MITEs: important players in the evolution of plant genomes.
Current opinion in genetics & development | 1995-12-01 | PMID 8745082
Wessler S R, Bureau T E, White S E
CA-repeated microsatellite polymorphism of the glucokinase gene and its association with non-insulin-dependent diabetes mellitus in Taiwanese.
Diabetes research and clinical practice | 1995-10-01 | PMID 8745202
Wu H P, Tai T Y, Chuang L M and 2 more
Sequence analysis of the hepatitis C virus (HCV) core gene suggests the core protein as an appropriate target for HCV vaccine strategies.
Journal of viral hepatitis | 1995-01-01 | PMID 8745315
Hitomi Y, McDonnell W M, Killeen A A and 1 more
Interferon-alpha 2a for chronic hepatitis B with e antigen or antibody:comparable antiviral effects on wild-type virus and precore mutant.
Journal of viral hepatitis | 1995-01-01 | PMID 8745316
Aikawa T, Kanai K, Kako M and 7 more
Hepatitis B virus precore mutants in HBeAg carriers with chronic hepatitis treated with interferon.
Journal of viral hepatitis | 1995-01-01 | PMID 8745317
Lampertico P, Manzin A, Rumi M G and 4 more
Genotypic variation, clinical and histological characteristics of chronic hepatitis C detected at blood donor screening.
Journal of viral hepatitis | 1995-01-01 | PMID 8745319
Bird G L, Spence E, Hillan K J and 6 more
Modulation of the phenotypic diversity of sickle cell anemia.
Hemoglobin | 1996-02-01 | PMID 8745428
Steinberg M H
HB Gouda [alpha 72(EF1)His-->Gln], a new silent alpha chain variant.
Hemoglobin | 1996-02-01 | PMID 8745429
Giordano P C, Harteveld C L, Kok P J and 4 more
HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.
Hemoglobin | 1996-02-01 | PMID 8745430
Frischknecht H, Ventruto M, Hess D and 6 more