Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.
Journal of medical genetics | 1993-04-01 | PMID 8487270
Walley A J, Barth M L, Ellis I 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 654 of 10600
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
Journal of medical genetics | 1993-04-01 | PMID 8487271
Kleiman S, Vanagaite L, Bernstein J and 5 more
Polydactyly: a study of a five generation Indian family.
Journal of medical genetics | 1993-04-01 | PMID 8487274
Radhakrishna U, Multani A S, Solanki J V and 2 more
Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?
Journal of medical genetics | 1993-04-01 | PMID 8487282
Fryns J P, Moerman P
Three-dimensional structure of lipoamide dehydrogenase from Pseudomonas fluorescens at 2.8 A resolution. Analysis of redox and thermostability properties.
Journal of molecular biology | 1993-04-20 | PMID 8487301
Mattevi A, Obmolova G, Kalk K H and 2 more
[Tetra-X syndrome with epilepsy, mental retardation and multiple dysmorphias].
Klinische Padiatrie | 2000-01-01 | PMID 8487481
Fehlow P, Miosge W, Walther F
Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
Journal of inherited metabolic disease | 1993-01-01 | PMID 8487499
Shoji Y, Sato W, Hayasaka K and 1 more
Membrane-bound sorbitol dehydrogenase in human red blood cells. Studies in normal subjects and in enzyme-deficient subjects with congenital cataracts.
Journal of inherited metabolic disease | 1993-01-01 | PMID 8487505
Alvarez A, Martínez A, Ibarra B and 4 more
Genes: SORD
Effect of verapamil on daunorubicin accumulation in human leukemic cells with different levels of MDR1 gene expression.
Leukemia research | 1993-04-01 | PMID 8487584
Gruber A, Briese B, Areström I and 3 more
Cholesterol gallstone induction in hamsters reflects strain differences in plasma lipoproteins and bile acid profiles.
Lipids | 1993-04-01 | PMID 8487622
Trautwein E A, Liang J, Hayes K C
Fatty acids in the lipids of Drosophila heads: effects of visual mutants, carotenoid deprivation and dietary fatty acids.
Lipids | 1993-04-01 | PMID 8487627
Stark W S, Lin T N, Brackhahn D and 2 more
mtDNA diversity in rhesus monkeys reveals overestimates of divergence time and paraphyly with neighboring species.
Molecular biology and evolution | 1993-03-01 | PMID 8487631
Melnick D J, Hoelzer G A, Absher R and 1 more
Intraspecific DNA sequence variation of the mitochondrial control region of white sturgeon (Acipenser transmontanus).
Molecular biology and evolution | 1993-03-01 | PMID 8487634
Brown J R, Beckenbach A T, Smith M J
Low codon bias and high rates of synonymous substitution in Drosophila hydei and D. melanogaster histone genes.
Molecular biology and evolution | 1993-03-01 | PMID 8487638
Fitch D H, Strausbaugh L D
The variability of the hepatitis B virus genome: statistical analysis and biological implications.
Molecular biology and evolution | 1993-03-01 | PMID 8487640
Lauder I J, Lin H J, Lau J Y and 2 more
Apolipoprotein E polymorphism and its association with serum lipoprotein concentrations in black versus white children: the Bogalusa Heart Study.
Metabolism: clinical and experimental | 1993-03-01 | PMID 8487659
Srinivasan S R, Ehnholm C, Wattigney W and 1 more
Extensive somatic mutation in the Ig heavy chain V genes in a late primary anti-hapten immune response.
Molecular immunology | 1993-04-01 | PMID 8487778
Tao W, Hardardottir F, Bothwell A L
Affinity maturation leads to differential expression of multiple copies of a kappa light-chain transgene.
Nature | 1993-05-20 | PMID 8487865
Lozano F, Rada C, Jarvis J M and 1 more
Mankind and plants: the need to conserve biodiversity.
Parasitology | 1993-01-01 | PMID 8488071
Bell E A
Sequence analysis of X-ray-induced mutations occurring in a cDNA of the human hprt gene integrated into mammalian chromosomal DNA.
Radiation research | 1993-05-01 | PMID 8488253
Kimura H, Higuchi H, Iyehara-Ogawa H and 1 more
Generation of cytotoxic T lymphocytes from peripheral blood.
Surgery | 1993-05-01 | PMID 8488472
McKinnon J G, Lalani A, Sy L and 1 more
Prevalence of apolipoprotein E phenotypes in ischemic cerebrovascular disease. A case-control study.
Stroke | 1993-05-01 | PMID 8488520
Couderc R, Mahieux F, Bailleul S and 3 more
Ionizing radiation, genetic risk estimation and molecular biology: impact and inferences.
Trends in genetics : TIG | 1993-03-01 | PMID 8488566
Sankaranarayanan K
Turner syndrome: the case of the missing sex chromosome.
Trends in genetics : TIG | 1993-03-01 | PMID 8488568
Zinn A R, Page D C, Fisher E M
Studies of safety, infectivity and immunogenicity of a new temperature-sensitive (ts) 51-1 strain of Salmonella typhi as a new live oral typhoid fever vaccine candidate.
Vaccine | 1993-01-01 | PMID 8488717
Bellanti J A, Zeligs B J, Vetro S and 7 more
Heterogeneity of the woodchuck hepatitis virus genome in a chronically infected woodchuck.
Virus research | 1993-03-01 | PMID 8488722
Kew M C, Chestnut T, Baldwin B H and 4 more
Role of the gamma component of preprotoxin in expression of the yeast K1 killer phenotype.
Yeast (Chichester, England) | 1993-03-01 | PMID 8488726
Zhu Y S, Kane J, Zhang X Y and 2 more
Yeast mutants affected in viability upon starvation have a modified phospholipid composition.
Yeast (Chichester, England) | 1993-03-01 | PMID 8488727
Desfarges L, Durrens P, Juguelin H and 3 more
Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation.
American journal of human genetics | 1993-05-01 | PMID 8488837
Crosby J L, Varnum D S, Nadeau J H
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
American journal of human genetics | 1993-05-01 | PMID 8488839
Kline A D, White M E, Wapner R and 7 more
Incidence and origin of "null" alleles in the (AC)n microsatellite markers.
American journal of human genetics | 1993-05-01 | PMID 8488841
Callen D F, Thompson A D, Shen Y and 4 more
Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism.
American journal of human genetics | 1993-05-01 | PMID 8488842
Bartels C F, Zelinski T, Lockridge O
Genes: ACHE
Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia.
American journal of human genetics | 1993-05-01 | PMID 8488843
van den Maagdenberg A M, Weng W, de Bruijn I H and 7 more
Genes: APOE
Segregation analysis of fat mass and other body composition measures derived from underwater weighing.
American journal of human genetics | 1993-05-01 | PMID 8488846
Rice T, Borecki I B, Bouchard C and 1 more
Molecular topography of the secondary constriction region (qh) of human chromosome 9 with an unusual euchromatic band.
American journal of human genetics | 1993-05-01 | PMID 8488847
Verma R S, Luke S, Brennan J P and 3 more
Diverse growth hormone receptor gene mutations in Laron syndrome.
American journal of human genetics | 1993-05-01 | PMID 8488849
Berg M A, Argente J, Chernausek S and 7 more
Genes: GHR
Detection of the cystic fibrosis delta-F508 mutation at autopsy by site-directed mutagenesis.
American journal of medical genetics | 1993-05-15 | PMID 8488869
Salcedo M, Chávez M, Ridaura C and 3 more
DRD2 dopamine receptor genotype, linkage disequilibrium, and alcoholism in American Indians and other populations.
Alcoholism, clinical and experimental research | 1993-04-01 | PMID 8488955
Goldman D, Brown G L, Albaugh B and 7 more
Genes: DRD2
A genetic familial study of monoamine oxidase B activity and concentration in alcoholics.
Alcoholism, clinical and experimental research | 1993-04-01 | PMID 8488965
Devor E J, Cloninger C R, Kwan S W and 1 more
Saccharin intake predicts ethanol intake in genetically heterogeneous rats as well as different rat strains.
Alcoholism, clinical and experimental research | 1993-04-01 | PMID 8488981
Overstreet D H, Kampov-Polevoy A B, Rezvani A H and 3 more
Genetic structure of human populations in the British Isles.
Annals of human biology | 2000-01-01 | PMID 8489197
Falsetti A B, Sokal R R
Genes: ABO
Association of a monoamine oxidase B allele with Parkinson's disease.
Annals of neurology | 1993-04-01 | PMID 8489207
Kurth J H, Kurth M C, Poduslo S E and 1 more
A proposed nonpathogenic biological indicator for thermal inactivation of Listeria monocytogenes.
Applied and environmental microbiology | 1993-04-01 | PMID 8489233
Fairchild T M, Foegeding P M
Analysis of HLA class II polymorphism using polymerase chain reaction.
Archives of pathology & laboratory medicine | 1993-05-01 | PMID 8489336
Erlich H, Bugawan T, Begovich A and 1 more
Determination of tumor aggressiveness in colorectal cancer by K-ras-2 analysis.
Archives of surgery (Chicago, Ill. : 1960) | 1993-05-01 | PMID 8489386
Finkelstein S D, Sayegh R, Bakker A and 1 more
Atypical Leber's hereditary optic neuropathy with molecular confirmation.
Archives of neurology | 1993-05-01 | PMID 8489402
Weiner N C, Newman N J, Lessell S and 3 more
Leber's hereditary optic neuropathy. New genetic considerations.
Archives of neurology | 1993-05-01 | PMID 8489411
Newman N J
Influence of age on noise-induced permanent threshold shifts in CBA/Ca and C57BL/6J mice.
Audiology : official organ of the International Society of Audiology | 2000-01-01 | PMID 8489480
Li H S, Hultcrantz M, Borg E
Genes: PTS, ABR
Susceptibility to relapsing polychondritis is associated with HLA-DR4.
Arthritis and rheumatism | 1993-05-01 | PMID 8489544
Lang B, Rothenfusser A, Lanchbury J S and 6 more
Application of denaturing gradient gel blots to detect p53 mutations in X-ray-transformed mouse C3H 10T1/2 clones.
Molecular carcinogenesis | 1993-01-01 | PMID 8489714
Krolewski B, Little J B
Adherence and surface properties of buoyant density subpopulations of group B streptococci, type III.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica | 1993-02-01 | PMID 8489765
Granlund-Edstedt M, Sellin M, Holm A and 1 more
Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis.
European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies | 1993-03-01 | PMID 8490057
Verstraeten L, Van Regemorter N, Pardou A and 7 more
The emerging genetic theories of unstable DNA, uniparental disomy, and imprinting.
Current opinion in obstetrics & gynecology | 1993-04-01 | PMID 8490087
Wilkins-Haug L
Racial variation in human leukocyte antigen frequency in insulin-dependent diabetic nephropathy. The South-Eastern Organ Procurement Foundation.
Journal of the American Society of Nephrology : JASN | 1993-02-01 | PMID 8490118
Freedman B I, Espeland M A, Heise E R and 2 more
Phenotypic difference of normal plasma cells from mature myeloma cells.
Blood | 1993-05-15 | PMID 8490175
Harada H, Kawano M M, Huang N and 7 more
Mutational activation of N- and K-ras oncogenes in plasma cell dyscrasias.
Blood | 1993-05-15 | PMID 8490179
Corradini P, Ladetto M, Voena C and 5 more
A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.
Blood | 1993-05-15 | PMID 8490186
Alloisio N, Wilmotte R, Maréchal J and 5 more
Behavior in light-dark cycles of Drosophila mutants that are arrhythmic, blind, or both.
Journal of biological rhythms | 1993-01-01 | PMID 8490212
Wheeler D A, Hamblen-Coyle M J, Dushay M S and 1 more
Renin gene nucleotide sequence of coding and regulatory regions in Dahl rats.
Clinical and experimental hypertension (New York, N.Y. : 1993) | 1993-05-01 | PMID 8490598
Alam K Y, Wang Y, Dene H and 1 more
cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young.
Human molecular genetics | 1993-01-01 | PMID 8490617
Stoffel M, Xiang K S, Espinosa R and 3 more
Genes: PCK1
Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.
Human molecular genetics | 1993-01-01 | PMID 8490618
Naylor J A, Green P M, Rizza C R and 1 more
Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR.
Human molecular genetics | 1993-01-01 | PMID 8490620
Gibson R A, Buchwald M, Roberts R G and 1 more
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
Human molecular genetics | 1993-01-01 | PMID 8490621
Vainzof M, Takata R I, Passos-Bueno M R and 2 more
Genes: DMD
Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia.
Human molecular genetics | 1993-01-01 | PMID 8490626
Pullinger C R, Zysow B R, Hennessy L K and 3 more
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
Nature genetics | 1993-01-01 | PMID 8490648
Tassabehji M, Read A P, Newton V E and 4 more
Genes: PAX3
Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse.
Nature genetics | 1993-01-01 | PMID 8490655
Cattanach B M, Burtenshaw M D, Rasberry C and 1 more
Neurofibromatosis type 1 gene mutations in neuroblastoma.
Nature genetics | 1993-01-01 | PMID 8490657
The I, Murthy A E, Hannigan G E and 4 more
Evidence for a new tumour suppressor locus (DBM) in human B-cell neoplasia telomeric to the retinoblastoma gene.
Nature genetics | 1993-01-01 | PMID 8490658
Brown A G, Ross F M, Dunne E M and 2 more
Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency.
Nature genetics | 1993-01-01 | PMID 8490660
Soudais C, de Villartay J P, Le Deist F and 2 more
Vasopressin- and oxytocin-immunoreactive hypothalamic neurones of inbred polydipsic mice.
Brain research bulletin | 1993-01-01 | PMID 8490739
Ison A, Yuri K, Ueta Y and 4 more
Genes: AVP, OXT, SON
Pediatric molecular oncology. Past as prologue to the future.
Cancer | 1993-05-15 | PMID 8490875
Knudson A G
Developmental regulation of carbonic anhydrase expression in mouse dorsal root ganglia.
Brain research. Developmental brain research | 1993-02-19 | PMID 8491042
Mayeux V, Tafti M, Baldy-Moulinier M and 1 more
Genetic and nongenetic determinants of regional fat distribution.
Endocrine reviews | 1993-02-01 | PMID 8491156
Bouchard C, Després J P, Mauriège P
Strategies for differential sensory responses mediated through the same transmembrane receptor.
The EMBO journal | 1993-05-01 | PMID 8491182
Yaghmai R, Hazelbauer G L
A novel role for RhoGDI as an inhibitor of GAP proteins.
The EMBO journal | 1993-05-01 | PMID 8491184
Hancock J F, Hall A
Genes: BCR
Multi-site phosphorylation of the protein tyrosine phosphatase, PTP1B: identification of cell cycle regulated and phorbol ester stimulated sites of phosphorylation.
The EMBO journal | 1993-05-01 | PMID 8491187
Flint A J, Gebbink M F, Franza B R and 2 more
Destruction of the CDC28/CLB mitotic kinase is not required for the metaphase to anaphase transition in budding yeast.
The EMBO journal | 1993-05-01 | PMID 8491189
Surana U, Amon A, Dowzer C and 3 more
Two novel protein kinase C-related genes of fission yeast are essential for cell viability and implicated in cell shape control.
The EMBO journal | 1993-05-01 | PMID 8491190
Toda T, Shimanuki M, Yanagida M
asense, a member of the Drosophila achaete-scute complex, is a proneural and neural differentiation gene.
The EMBO journal | 1993-05-01 | PMID 8491195
Domínguez M, Campuzano S
Stepwise assembly of hyperaggregated forms of Drosophila zeste mutant protein suppresses white gene expression in vivo.
The EMBO journal | 1993-05-01 | PMID 8491196
Chen J D, Pirrotta V
Overproduction of the poly(ADP-ribose) polymerase DNA-binding domain blocks alkylation-induced DNA repair synthesis in mammalian cells.
The EMBO journal | 1993-05-01 | PMID 8491199
Molinete M, Vermeulen W, Bürkle A and 4 more
Multiple pathways of reversion in viroids for conservation of structural elements.
The EMBO journal | 1993-05-01 | PMID 8491201
Qu F, Heinrich C, Loss P and 3 more
The td intron endonuclease I-TevI makes extensive sequence-tolerant contacts across the minor groove of its DNA target.
The EMBO journal | 1993-05-01 | PMID 8491202
Bryk M, Quirk S M, Mueller J E and 3 more
Synthesis and subcellular location of peroxisomal membrane proteins in a peroxisome-deficient mutant of the yeast Hansenula polymorpha.
The EMBO journal | 1993-05-01 | PMID 8491207
Sulter G J, Vrieling E G, Harder W and 1 more
Genetic method for pre-classification of genotoxins into monofunctional or cross-linking agents.
Environmental and molecular mutagenesis | 1993-01-01 | PMID 8491211
Vogel E W, Zijlstra J A, Nivard M J
The Cdk-associated protein Cks1 functions both in G1 and G2 in Saccharomyces cerevisiae.
Genes & development | 1993-05-01 | PMID 8491379
Tang Y, Reed S I
Multiple extracellular signals govern the production of a morphogenetic protein involved in aerial mycelium formation by Streptomyces coelicolor.
Genes & development | 1993-05-01 | PMID 8491384
Willey J, Schwedock J, Losick R
GSTM1 null polymorphism at the glutathione S-transferase M1 locus: phenotype and genotype studies in patients with primary biliary cirrhosis.
Gut | 1993-04-01 | PMID 8491405
Davies M H, Elias E, Acharya S and 4 more
Genes: GSTM1
Immunophenotypic and genotypic characterization of B-cell chronic lymphocytic leukemia patients from northern Italy.
Haematologica | 2000-01-01 | PMID 8491418
Gandini D, Lanza F, Latorraca A and 3 more
Monocytoid B-cell lymphoma with a distinctive clinical presentation.
Human pathology | 1993-05-01 | PMID 8491494
Vasef M, Katzin W E
Lipopolysaccharide in adherence of Pseudomonas aeruginosa to the cornea and contact lenses.
Investigative ophthalmology & visual science | 1993-05-01 | PMID 8491546
Fletcher E L, Fleiszig S M, Brennan N A
Characterization and symbiotic importance of acidic extracellular polysaccharides of Rhizobium sp. strain GRH2 isolated from acacia nodules.
Journal of bacteriology | 1993-05-01 | PMID 8491702
Lopez-Lara I M, Orgambide G, Dazzo F B and 2 more
Expression of chicken vinculin complements the adhesion-defective phenotype of a mutant mouse F9 embryonal carcinoma cell.
The Journal of cell biology | 1993-05-01 | PMID 8491782
Samuels M, Ezzell R M, Cardozo T J and 3 more
Isolation of a temperature-sensitive variant Chinese hamster ovary cell line with a morphologically altered endocytic recycling compartment.
Journal of cellular physiology | 1993-06-01 | PMID 8491793
McGraw T E, Dunn K W, Maxfield F R
Biological activities of p53 mutants in Burkitt's lymphoma cells.
The Journal of general virology | 1993-05-01 | PMID 8492087
Vousden K H, Crook T, Farrell P J
Identification of regional variants of the rabies virus within the Canadian province of Ontario.
The Journal of general virology | 1993-05-01 | PMID 8492088
Nadin-Davis S A, Casey G A, Wandeler A
Sequence variation in the env gene of simian immunodeficiency virus recovered from immunized macaques is predominantly in the V1 region.
The Journal of general virology | 1993-05-01 | PMID 8492090
Almond N, Jenkins A, Heath A B and 1 more
Wild-type coat protein gene of tobacco mosaic virus mutant Ni 2519.
The Journal of general virology | 1993-05-01 | PMID 8492096
Zimmern D, Hiang T C, Harley C
The Jeryl Lynn vaccine strain of mumps virus is a mixture of two distinct isolates.
The Journal of general virology | 1993-05-01 | PMID 8492099
Afzal M A, Pickford A R, Forsey T and 2 more
Down's syndrome and celiac disease: the prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in trisomy 21.
Journal of pediatric gastroenterology and nutrition | 1993-04-01 | PMID 8492253
Castro M, Crinò A, Papadatou B and 7 more
Genes: AGA