Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
American journal of medical genetics | 1997-01-20 | PMID 9028460
Choy F Y, Humphries M L, Ferreira P
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 813 of 10600
Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability.
American journal of medical genetics | 1997-01-20 | PMID 9028461
Wallerstein R, Kacmar J, Anderson C E and 1 more
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
American journal of medical genetics | 1997-01-20 | PMID 9028466
Ausems M G, Bakker E, Berger R and 10 more
Genes: OTC
Hepatitis C genotypes in Australian haemophilia patients.
Australian and New Zealand journal of medicine | 1996-12-01 | PMID 9028509
Baker R I, Smith J, Eikelboom J and 7 more
Proliferating cells in the primary spongiosa express osteoblastic phenotype in vitro.
Bone | 1997-02-01 | PMID 9028532
Onyia J E, Miller B, Hulman J and 8 more
Genes: PTH
Application of an HLA-B PCR-SSOP typing method to a bone marrow donor registry.
Bone marrow transplantation | 1997-02-01 | PMID 9028546
Williams F, Mawhinney H, Middleton D
Physiological and genetic characterization of the Gly40Ser mutation in the glucagon receptor gene in the Sardinian population. The Sardinian Diabetes Genetic Study Group.
Diabetologia | 1997-01-01 | PMID 9028723
Tonolo G, Melis M G, Ciccarese M and 10 more
Analysis of the allele-specific PCR method for the detection of neoplastic disease.
Diagnostic molecular pathology : the American journal of surgical pathology, part B | 1997-02-01 | PMID 9028737
Rhodes C H, Honsinger C, Porter D M and 1 more
Clinicopathologic analysis of k-ras, p53, and ERBB-2 gene alterations in pulmonary adenocarcinoma.
Diagnostic molecular pathology : the American journal of surgical pathology, part B | 1997-02-01 | PMID 9028739
Visscher D W, Yadrandji S, Tabaczka P and 2 more
Atrophy and loss of dopaminergic mesencephalic neurons in heterozygous weaver mice.
Experimental brain research | 1997-01-01 | PMID 9028770
Verina T, Norton J A, Sorbel J J and 5 more
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Experimental dermatology | 1996-12-01 | PMID 9028791
Corden L D, McLean W H
Stress and genetic testing for disease risk.
Health psychology : official journal of the Division of Health Psychology, American Psychological Association | 1997-01-01 | PMID 9028812
Baum A, Friedman A L, Zakowski S G
Psychological responses to BRCA1 mutation testing: preliminary findings.
Health psychology : official journal of the Division of Health Psychology, American Psychological Association | 1997-01-01 | PMID 9028816
Croyle R T, Smith K R, Botkin J R and 2 more
Genes: BRCA1
Hb Puttelange [beta 140(H19)Ala-->Val] in an Italian man with polycythemia.
Hemoglobin | 1997-01-01 | PMID 9028820
Galanello R, Paleari R, Perseu L and 6 more
The molecular basis of Hb H disease in Turkey.
Hemoglobin | 1997-01-01 | PMID 9028822
Oner C, Gürgey A, Oner R and 4 more
Identification of Mediterranean beta-thalassemia mutations by reverse dot-blot in Italians and Egyptians.
Hemoglobin | 1997-01-01 | PMID 9028824
Rady M S, Baffico M, Khalifa A S and 6 more
Multivariant confirmation of sickle cell disease using a non-radioactive minisequencing reaction.
Hemoglobin | 1997-01-01 | PMID 9028825
Tuuminen T, Ingman H, Therrell B L and 1 more
Characterization of a SV40-transformed rheumatoid synovial fibroblast cell line which retains genotypic expression patterns: a model for evaluation of anti-arthritic agents.
In vitro cellular & developmental biology. Animal | 1997-01-01 | PMID 9028833
Zhang H G, Blackburn W D, Minghetti P P
Genes: TNF
CD2 regulates the positive selection and function of antigen-specific CD4- CD8+ T cells.
Blood | 1997-02-15 | PMID 9028954
Teh S J, Killeen N, Tarakhovsky A and 2 more
Molecular defects in Hb H hydrops fetalis.
British journal of haematology | 1997-02-01 | PMID 9029003
Chan V, Chan V W, Tang M and 3 more
Persistent polyclonal B-cell lymphocytosis in identical twins.
British journal of haematology | 1997-02-01 | PMID 9029012
Carr R, Fishlock K, Matutes E
Two novel alleles of the ATCT variable number tandem repeat locus VWF.VNTR I in intron 40 of the von Willebrand factor gene.
British journal of haematology | 1997-02-01 | PMID 9029016
Haddad A P, Sparrow R L
Genes: VWF
Multigenetic lesions in infant acute leukaemias: correlations with ALL-1 gene status.
British journal of haematology | 1997-02-01 | PMID 9029018
Cimino G, Lanza C, Elia L and 9 more
A new c-kit mutation in a case of aggressive mast cell disease.
British journal of haematology | 1997-02-01 | PMID 9029028
Pignon J M, Giraudier S, Duquesnoy P and 5 more
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.
Annals of neurology | 1997-02-01 | PMID 9029070
Cudkowicz M E, McKenna-Yasek D, Sapp P E and 7 more
Genes: SOD1
Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?
Annals of neurology | 1997-02-01 | PMID 9029072
DiDonato C J, Ingraham S E, Mendell J R and 5 more
Polymorphism in the alpha 1 helix of the HLA-B heavy chain can have an overriding influence on peptide-binding specificity.
Journal of immunology (Baltimore, Md. : 1950) | 1997-02-15 | PMID 9029102
Barber L D, Percival L, Arnett K L and 3 more
Over-expression of GATA-6 in Xenopus embryos blocks differentiation of heart precursors.
The EMBO journal | 1997-01-15 | PMID 9029155
Gove C, Walmsley M, Nijjar S and 5 more
Pop3p is essential for the activity of the RNase MRP and RNase P ribonucleoproteins in vivo.
The EMBO journal | 1997-01-15 | PMID 9029160
Dichtl B, Tollervey D
Highly metastatic hepatocellular carcinomas induced in male F344 rats treated with N-nitrosomorpholine in combination with other hepatocarcinogens show a high incidence of p53 gene mutations along with altered mRNA expression of tumor-related genes.
Cancer letters | 1997-01-15 | PMID 9029167
Masui T, Nakanishi H, Inada K and 6 more
Genes: EGF, EGFR
Polymorphism of metabolizing genes and lung cancer histology: prevalence of CYP2E1 in adenocarcinoma.
Cancer letters | 1997-01-15 | PMID 9029171
El-Zein R A, Zwischenberger J B, Abdel-Rahman S Z and 2 more
Genes: GSTM1, GSTT1
Aeromonas species in fish, fish-eggs, shrimp and freshwater.
International journal of food microbiology | 1997-01-01 | PMID 9029253
Hänninen M L, Oivanen P, Hirvelä-Koski V
Genotypic diversity of Campylobacter lari isolated from mussels and oysters in The Netherlands.
International journal of food microbiology | 1997-01-01 | PMID 9029257
Endtz H P, Vliegenthart J S, Vandamme P and 4 more
Genetic parameters of longevity traits of an upgrading population of dairy cattle.
Journal of dairy science | 1996-12-01 | PMID 9029365
Vollema A R, Groen A F
Human adenosine A2a receptor (A2aAR) gene: systematic mutation screening in patients with schizophrenia.
Journal of neural transmission (Vienna, Austria : 1996) | 1996-01-01 | PMID 9029412
Deckert J, Nöthen M M, Rietschel M and 8 more
Rapid and sensitive genotyping of hepatitis C virus by single-strand conformation polymorphism.
Journal of virological methods | 1997-02-01 | PMID 9029525
Lareu R R, Swanson N R, Fox S A
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Pediatric research | 1997-02-01 | PMID 9029639
Tanaka K, Gregersen N, Ribes A and 16 more
Genes: CFTR
Association of -158 (C-->T) (XmnI) DNA polymorphism in G gamma-globin promoter with delayed switchover from fetal to adult hemoglobin synthesis.
Pediatric research | 1997-02-01 | PMID 9029641
Peri K G, Gagnon J, Gagnon C and 1 more
Hepatocyte nuclear factor-4 alpha gene mutations in Japanese non-insulin dependent diabetes mellitus (NIDDM) patients.
Research communications in molecular pathology and pharmacology | 1996-12-01 | PMID 9029679
Nakajima H, Yoshiuchi I, Hamaguchi T and 13 more
Peripheral benzodiazepine receptor in cholesterol transport and steroidogenesis.
Steroids | 1997-01-01 | PMID 9029710
Papadopoulos V, Amri H, Boujrad N and 10 more
Genes: DBI
Molecular analysis of 11 beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess.
Steroids | 1997-01-01 | PMID 9029720
White P C, Mune T, Rogerson F M and 2 more
Structure of cytochrome P450eryF: substrate, inhibitors, and model compounds bound in the active site.
Steroids | 1997-01-01 | PMID 9029724
Cupp-Vickery J R, Poulos T L
Regulation of androgen synthesis: the late steroidogenic pathway.
Steroids | 1997-01-01 | PMID 9029727
Dufau M L, Miyagawa Y, Takada S and 3 more
The regulation of 17,20 lyase activity.
Steroids | 1997-01-01 | PMID 9029728
Miller W L, Auchus R J, Geller D H
Physiology and molecular genetics of 17 beta-hydroxysteroid dehydrogenases.
Steroids | 1997-01-01 | PMID 9029729
Andersson S, Moghrabi N
Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency.
Steroids | 1997-01-01 | PMID 9029734
Morel Y, Mébarki F, Rhéaume E and 3 more
Apoptosis in steroidogenic cells: structure-function analysis.
Steroids | 1997-01-01 | PMID 9029738
Amsterdam A, Dantes A, Selvaraj N and 1 more
Assembly of the reovirus outer capsid requires mu 1/sigma 3 interactions which are prevented by misfolded sigma 3 protein in temperature-sensitive mutant tsG453.
Virus research | 1996-12-01 | PMID 9029774
Shing M, Coombs K M
Temperature sensitive mutants of influenza A virus generated by reverse genetics and clustered charged to alanine mutagenesis.
Virus research | 1996-12-01 | PMID 9029775
Parkin N T, Chiu P, Coelingh K L
A recently silenced, duplicate PgiC locus in Clarkia.
Molecular biology and evolution | 1997-02-01 | PMID 9029791
Gottlieb L D, Ford V S
A large-subunit mitochondrial ribosomal DNA sequence translocated to the nuclear genome of two stone crabs (Menippe).
Molecular biology and evolution | 1997-02-01 | PMID 9029793
Schneider-Broussard R, Neigel J E
Mitochondrial and nuclear genes present conflicting portraits of human origins.
Molecular biology and evolution | 1997-02-01 | PMID 9029794
Hey J
Genes: PDHA1
Structural conservation and variation in the mitochondrial control region of fringilline finches (Fringilla spp.) and the greenfinch (Carduelis chloris).
Molecular biology and evolution | 1997-02-01 | PMID 9029795
Marshall H D, Baker A J
Changes in the cellular composition of Candida albicans resistant to miconazole.
Indian journal of biochemistry & biophysics | 1996-10-01 | PMID 9029825
Sharma S, Khuller G K
Genotype-phenotype correlation in Duchenne/Becker muscular dystrophy patients seen at Lucknow.
The Indian journal of medical research | 1997-01-01 | PMID 9029833
Mittal B, Singh V, Mishra S and 6 more
Genes: DMD
Macrophage arachidonate release via both the cytosolic Ca(2+)-dependent and -independent phospholipases is necessary for cell spreading.
Biochimica et biophysica acta | 1997-01-21 | PMID 9030195
Teslenko V, Rogers M, Lefkowith J B
Effectiveness of 3TC in HIV clinical trials may be due in part to the M184V substitution in 3TC-resistant HIV-1 reverse transcriptase.
AIDS (London, England) | 1996-12-01 | PMID 9030390
Wainberg M A, Hsu M, Gu Z and 2 more
Alterations in N-methyl-D-aspartate receptor binding in dystonic hamster brains.
Brain research | 1997-01-02 | PMID 9030427
Nobrega J N, Richter A, Jiwa D and 2 more
VMA11 and VMA16 encode second and third proteolipid subunits of the Saccharomyces cerevisiae vacuolar membrane H+-ATPase.
The Journal of biological chemistry | 1997-02-21 | PMID 9030535
Hirata R, Graham L A, Takatsuki A and 2 more
Genes: PPA1
Interaction of human T-cell lymphotropic virus type I Tax, Ets1, and Sp1 in transactivation of the PTHrP P2 promoter.
The Journal of biological chemistry | 1997-02-21 | PMID 9030555
Dittmer J, Pise-Masison C A, Clemens K E and 2 more
Crystal structures of CheY mutants Y106W and T87I/Y106W. CheY activation correlates with movement of residue 106.
The Journal of biological chemistry | 1997-02-21 | PMID 9030562
Zhu X, Rebello J, Matsumura P and 1 more
Influence of allelic variation on apolipoprotein(a) folding in the endoplasmic reticulum.
The Journal of biological chemistry | 1997-02-21 | PMID 9030568
White A L, Guerra B, Lanford R E
Genes: SDS
Regulation of the soxRS oxidative stress regulon. Reversible oxidation of the Fe-S centers of SoxR in vivo.
The Journal of biological chemistry | 1997-02-21 | PMID 9030573
Gaudu P, Moon N, Weiss B
The role of receptor dimerization domain residues in growth hormone signaling.
The Journal of biological chemistry | 1997-02-21 | PMID 9030580
Chen C, Brinkworth R, Waters M J
Mutation in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development.
Genes & development | 1997-02-01 | PMID 9030684
Wang D Z, Hammond V E, Abud H E and 3 more
Genes: EGFR, EGF
Ultraviolet radiation sensitivity and reduction of telomeric silencing in Saccharomyces cerevisiae cells lacking chromatin assembly factor-I.
Genes & development | 1997-02-01 | PMID 9030687
Kaufman P D, Kobayashi R, Stillman B
Genes: MSI1
RLF2, a subunit of yeast chromatin assembly factor-I, is required for telomeric chromatin function in vivo.
Genes & development | 1997-02-01 | PMID 9030688
Enomoto S, McCune-Zierath P D, Gerami-Nejad M and 2 more
Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129.
Brain research. Molecular brain research | 1997-02-01 | PMID 9030710
Young K, Clark H B, Piccardo P and 2 more
Genes: GSS, PRNP
Polymorphism of the glycogen synthase gene and non-insulin-dependent diabetes mellitus in the Russian population.
Metabolism: clinical and experimental | 1997-02-01 | PMID 9030814
Babadjanova G, Allolio B, Beuschlein F and 2 more
Characterization of low-density lipoprotein subclasses in children.
Metabolism: clinical and experimental | 1997-02-01 | PMID 9030819
Arisaka O, Fujiwara S, Yabuta K and 3 more
Prevalence of the Trp64Arg missense mutation of the beta3-adrenergic receptor gene in Japanese subjects.
Metabolism: clinical and experimental | 1997-02-01 | PMID 9030829
Ueda K, Tanizawa Y, Oota Y and 6 more
Vitamin D receptor alleles do not correlate with bone mineral density in premenopausal Caucasian women from the southeastern United States.
Metabolism: clinical and experimental | 1997-02-01 | PMID 9030833
Alahari K D, Lobaugh B, Econs M J
Genes: VDR
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency.
Clinical and experimental immunology | 1997-02-01 | PMID 9030857
Ostenstad B, Giliani S, Mellbye O J and 2 more
Role of gammadelta T lymphocytes in the development of Behçet's disease.
Clinical and experimental immunology | 1997-02-01 | PMID 9030859
Yamashita N, Kaneoka H, Kaneko S and 6 more
A bias in the alphabeta T cell receptor variable region gene usage in Takayasu's arteritis.
Clinical and experimental immunology | 1997-02-01 | PMID 9030862
Nityanand S, Giscombe R, Srivastava S and 5 more
Induction of hypoglycaemia in Japanese encephalitis virus infection: the role of T lymphocytes.
Clinical and experimental immunology | 1997-02-01 | PMID 9030864
Khanna N, Mathur A, Bharadwaj M and 1 more
Genes: SDS
Analysis of rearranged immunoglobulin heavy chain variable region genes obtained from a bone marrow transplant (BMT) recipient.
Clinical and experimental immunology | 1997-02-01 | PMID 9030878
Glas A M, Nottenburg C, Milner E C
Identification and characterization of cells infiltrating the graft and aqueous humour in rat corneal allograft rejection.
Clinical and experimental immunology | 1997-02-01 | PMID 9030879
Larkin D F, Calder V L, Lightman S L
Phenotypic characterization of T cells in bronchoalveolar lavage fluid (BALF) and peripheral blood of patients with diffuse panbronchiolitis; the importance of cytotoxic T cells.
Clinical and experimental immunology | 1997-02-01 | PMID 9030883
Kawakami K, Kadota J, Iida K and 4 more
No genetic mutation in type II 3 beta-hydroxysteroid dehydrogenase gene in patients with biochemical evidence of enzyme deficiency.
Hormone research | 1997-01-01 | PMID 9030967
Tajima T, Nishi Y, Takase A and 3 more
Constitutive biological activity of thymus-independent TCR-alpha-beta+ intestinal intraepithelial lymphocytes in TCR-alpha-/- gene disruption mice.
Immunology letters | 1996-12-01 | PMID 9030982
Neuhaus O, Emoto M, Kaufmann S H
The molecular basis of hepatitis B e antigen (HBeAg)-negative infections.
Journal of viral hepatitis | 1997-01-01 | PMID 9031060
Miyakawa Y, Okamoto H, Mayumi M
TP53 mutations in myelodysplastic syndrome.
Leukemia & lymphoma | 1996-11-01 | PMID 9031070
Misawa S, Horiike S
Investigation of the RB-1 tumour suppressor gene in a United Kingdom series of non-Hodgkin's lymphomas.
Leukemia & lymphoma | 1996-10-01 | PMID 9031117
Grierson A J, Hodgkins M A, Hancock B W and 3 more
Detection of Epstein-Barr virus by PCR analyses in lymphoproliferative disease of granular lymphocytes.
Leukemia & lymphoma | 1996-10-01 | PMID 9031119
Pellenz M, Zambello R, Semenzato G and 1 more
A monoclonal antibody (1F3) to human glomerular epithelial cells: a new marker for renal epithelial cell injury.
Nephron | 1997-01-01 | PMID 9031272
Kagami S, Morimoto Y, Okada K and 3 more
Clinico-pathological predictive factors of response to interferon therapy in chronic hepatitis C.
The Southeast Asian journal of tropical medicine and public health | 1996-03-01 | PMID 9031407
Thavarungkul P, Toriyama K, Kusuda M and 5 more
The spectrum of beta-thalassemia mutations in Malays in Singapore and Kelantan.
The Southeast Asian journal of tropical medicine and public health | 1996-03-01 | PMID 9031421
Abdullah W A, Jamaluddin N B, Kham S K and 1 more
Analysis of HLA-DRB1 alleles using PCR-RFLP and PCR-MPH.
The Southeast Asian journal of tropical medicine and public health | 1996-03-01 | PMID 9031422
Thalang O N, Sukha C, Suwanasophon C and 3 more
Genes: LCT
Identification of three novel mutations in hereditary protein S deficiency.
Thrombosis and haemostasis | 1997-01-01 | PMID 9031443
Bustorff T C, Freire I, Gago T and 2 more
Genetic diagnosis of factor V Leiden using heteroduplex technology.
Thrombosis and haemostasis | 1997-01-01 | PMID 9031460
Bowen D J, Standen G R, Granville S and 3 more
Two missense mutations of H type alpha(1,2)fucosyltransferase gene (FUT1) responsible for para-Bombay phenotype.
Vox sanguinis | 1997-01-01 | PMID 9031498
Wang B, Koda Y, Soejima M and 1 more
Genes: FUT1
Heterogeneity of the human H blood group alpha(1,2)fucosyltransferase gene among para-Bombay individuals.
Vox sanguinis | 1997-01-01 | PMID 9031499
Yu L C, Yang Y H, Broadberry R E and 2 more
Variability in the cell phenotype of aggregates or "clones" of human osteoarthritic cartilage. A case report.
Biocell : official journal of the Sociedades Latinoamericanas de Microscopia Electronica ... et. al | 1996-12-01 | PMID 9031589
Kouri J B, Argüello C, Quintero M and 2 more
Inhibition of monocyte and polymorphonuclear granulocyte immune phagocytosis by monoclonal antibodies specific for Fc gamma RI, II and III.
Annals of hematology | 1997-01-01 | PMID 9031610
Flesch B K, Achtert G, Neppert J
Spontaneous splenic rupture in two patients with a blastoid variant of mantle cell lymphoma.
Annals of hematology | 1997-01-01 | PMID 9031613
Oinonen R, Franssila K, Elonen E
APC resistance as an additional thrombotic risk factor in a patient suffering from polycythemia vera and recurrent thrombosis.
Annals of hematology | 1997-01-01 | PMID 9031617
Lamparter S, Schuermann M, Heidtmann H H
Genes: APC
Cloning and characterization of Chinese hamster p53 cDNA.
Gene | 1997-01-15 | PMID 9031625
Lee H, Larner J M, Hamlin J L
High-fidelity PCR amplification of infectious copies of the complete simian virus 40 genome from plasmids and virus-infected cell lysates.
Gene | 1997-01-15 | PMID 9031627
Lednicky J A, Jafar S, Wong C and 1 more
A selection system to study C5a-C5a-receptor interactions: phage display of a novel C5a anaphylatoxin, Fos-C5aAla27.
Gene | 1997-01-15 | PMID 9031638
Hennecke M, Kola A, Baensch M and 4 more