Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy.
American journal of medical genetics | 1993-11-15 | PMID 7507294
Bay C, Mauk J, Radcliffe J and 1 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 392 of 10600
Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals.
American journal of medical genetics | 1993-11-15 | PMID 7507295
Moeschler J B, Graham J M
Characterization of foot-and-mouth disease virus by monoclonal antibodies.
Viral immunology | 1993-01-01 | PMID 7507329
Alonso A, Gomes M D, Ramalho A K and 4 more
Retrieval and amplification of DNA from unstained histopathological sections.
Biomedical and environmental sciences : BES | 1993-09-01 | PMID 7507331
Montague D C, Lyn-Cook B D, Chowdhury P and 1 more
From genotype to phenotype: computer-based modeling of gene expression with STELLA II.
BioTechniques | 1993-12-01 | PMID 7507334
Hargrove J L, Hulsey M G, Summers A O
Histochemical heterogeneity of mast cells in rat dermis.
Biotechnic & histochemistry : official publication of the Biological Stain Commission | 1993-11-01 | PMID 7507356
el Sayed S O, Dyson M
Adoptive immunotherapy of hormone-refractory, stage D2 prostate cancer using ex vivo activated autologous T cells (autolymphocyte therapy): results from a pilot study.
Biotechnology therapeutics | 1993-01-01 | PMID 7507387
Ross S, Liu V, Abulafia R and 2 more
Biological potential of basophilic hepatocellular foci and hepatic adenoma induced by the peroxisome proliferator, Wy-14,643.
Carcinogenesis | 1994-01-01 | PMID 7507413
Marsman D S, Popp J A
An efficient positive selection procedure for the isolation of peroxisomal import and peroxisome assembly mutants of Saccharomyces cerevisiae.
Genetics | 1993-11-01 | PMID 7507454
Elgersma Y, van den Berg M, Tabak H F and 1 more
Paramutation, an allelic interaction, is associated with a stable and heritable reduction of transcription of the maize b regulatory gene.
Genetics | 1993-11-01 | PMID 7507455
Patterson G I, Thorpe C J, Chandler V L
Calcineurin-dependent growth control in Saccharomyces cerevisiae mutants lacking PMC1, a homolog of plasma membrane Ca2+ ATPases.
The Journal of cell biology | 1994-02-01 | PMID 7507493
Cunningham K W, Fink G R
Biomarkers of aging: correlation of DNA I-compound levels with median lifespan of calorically restricted and ad libitum fed rats and mice.
Mutation research | 1993-12-01 | PMID 7507561
Randerath K, Zhou G D, Hart R W and 2 more
Population dynamics of CD4+ T cells lacking Thy-1 in murine retrovirus-induced immunodeficiency syndrome (MAIDS).
Scandinavian journal of immunology | 1994-02-01 | PMID 7507599
Moutschen M P, Colombi S, Deprez M and 5 more
A variant mRNA species encoding a truncated form of Fas antigen in the rat liver.
Biochemical and biophysical research communications | 1994-01-28 | PMID 7507668
Kimura K, Wakatsuki T, Yamamoto M
Hematopoietic origin of human natural killer (NK) cells: generation from immature progenitors.
Pathobiology : journal of immunopathology, molecular and cellular biology | 1993-01-01 | PMID 7507682
Silva M R, Kessler S, Ascensao J L
RARA and PML gene rearrangements in acute promyelocytic leukemia with complex translocations and atypical features.
Genes, chromosomes & cancer | 1994-01-01 | PMID 7507700
McKinney C D, Golden W L, Gemma N W and 2 more
Genes: RARA, PML
Multiple genetic events involving RB1 gene deletion and amplification of chromosome 21 in a case of acute lymphocytic leukemia.
Genes, chromosomes & cancer | 1994-01-01 | PMID 7507704
Liu Y, Söderhäll S, Heyman M and 3 more
Deletion mapping of the short arm of chromosome 3 in human malignant mesothelioma.
Genes, chromosomes & cancer | 1994-01-01 | PMID 7507705
Lu Y Y, Jhanwar S C, Cheng J Q and 1 more
Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses.
Genes, chromosomes & cancer | 1994-01-01 | PMID 7507706
Mertens F, Rydholm A, Kreicbergs A and 5 more
Stoichiometry of a recombinant GABAA receptor deduced from mutation-induced rectification.
Neuroreport | 1993-12-13 | PMID 7507726
Backus K H, Arigoni M, Drescher U and 4 more
A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)].
Blood | 1994-02-01 | PMID 7507739
Parsons S F, Jones J, Anstee D J and 6 more
Genes: CDA
Sl/Sld hematopoietic progenitors are deficient in situ.
Experimental hematology | 1994-02-01 | PMID 7507859
Barker J E
Septicemia-inducing Escherichia coli O115:K"V165"F165(1) resists killing by porcine polymorphonuclear leukocytes in vitro: role of F165(1) fimbriae and K"V165" O-antigen capsule.
Infection and immunity | 1994-02-01 | PMID 7507891
Ngeleka M, Martineau-Doizé B, Fairbrother J M
Analysis of toxinogenic functions associated with the RTX repeat region and monoclonal antibody D12 epitope of Escherichia coli hemolysin.
Infection and immunity | 1994-02-01 | PMID 7507896
Rowe G E, Pellett S, Welch R A
Structural analysis of mouse glycine receptor alpha subunit genes. Identification and chromosomal localization of a novel variant.
The Journal of biological chemistry | 1994-01-28 | PMID 7507926
Matzenbach B, Maulet Y, Sefton L and 4 more
The regulatory role of tri-iodothyronine on the production of alpha-fetoprotein and albumin by mouse fetal liver cells.
Human reproduction (Oxford, England) | 1993-10-01 | PMID 7507935
Anteby E, Shpan P, Dushnik M and 4 more
Genes: AFP
Molecular phenotype of simian virus 40 large T antigen-induced primitive neuroectodermal tumors in four different lines of transgenic mice.
Laboratory investigation; a journal of technical methods and pathology | 1994-01-01 | PMID 7508007
Fung K M, Chikaraishi D M, Suri C and 5 more
Comparative effects of indapamide and hydrochlorothiazide on cardiac hypertrophy and vascular smooth-muscle phenotype in the stroke-prone, spontaneously hypertensive rat.
Journal of cardiovascular pharmacology | 1993-01-01 | PMID 7508058
Contard F, Glukhova M, Sabri A and 7 more
Wn mutation of c-kit receptor affects its post-translational processing and extracellular expression.
Oncogene | 1994-01-01 | PMID 7508100
Koshimizu U, Tsujimura T, Isozaki K and 5 more
Immunohistologic detection of the primary follicle (PF) in human fetal and newborn lymph node anlages.
Pathology, research and practice | 1993-09-01 | PMID 7508104
Asano S, Akaike Y, Muramatsu T and 3 more
Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development.
Proceedings of the National Academy of Sciences of the United States of America | 1994-02-01 | PMID 7508121
Wysolmerski J J, Broadus A E, Zhou J and 3 more
Untransfected and SV40-transfected fetal and postnatal human thymic stromal cells. Analysis of phenotype, cytokine gene expression and cytokine production.
Thymus | 1993-08-01 | PMID 7508157
Galy A H, de Waal Malefyt R, Barcena A and 2 more
Genes: TEC, TNF
Effect of competitive antagonism of NO synthetase on weight and food intake in obese and diabetic mice.
The American journal of physiology | 1994-01-01 | PMID 7508208
Morley J E, Flood J F
Demonstration and characterization of the angiogenic properties of cervical dysplasia.
Cancer research | 1994-02-01 | PMID 7508337
Smith-McCune K K, Weidner N
Embryonic mesodermal defects in alpha 5 integrin-deficient mice.
Development (Cambridge, England) | 1993-12-01 | PMID 7508365
Yang J T, Rayburn H, Hynes R O
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
Genomics | 1993-12-01 | PMID 7508414
Cuppens H, Marynen P, De Boeck C and 1 more
Genes: CFTR
Identification of mycobacteria from animals by restriction enzyme analysis and direct DNA cycle sequencing of polymerase chain reaction-amplified 16S rRNA gene sequences.
Journal of clinical microbiology | 1993-12-01 | PMID 7508456
Hughes M S, Skuce R A, Beck L A and 1 more
B cell hyperactivity is a function of T cell derived cytokines in systemic lupus erythematosus.
The Journal of rheumatology | 1993-11-01 | PMID 7508509
al-Janadi M, Raziuddin S
Genes: TNF
Comparative investigation of anticlastogenic effects in cell cultures of healthy donors and patients with nettle-rash.
Mutation research | 1994-03-01 | PMID 7508559
Arutyunyan R M, Sarkisyan T F, Oganesyan G G and 1 more
Functional complementation of the radiation-sensitive mutant M10 cell line by human chromosome 5.
Mutation research | 2000-01-01 | PMID 7508566
Stackhouse M A, Ortiz J B, Sato K and 1 more
The clastogenic and mutagenic effects of ascorbigen and 1'-methylascorbigen.
Mutation research | 2000-01-01 | PMID 7508569
Musk S R, Preobrazhenskaya M N, Belitsky G A and 4 more
No correlation between DNA strand breaks and HPRT mutation induced by photochemical treatment in V79 cells.
Mutation research | 2000-01-01 | PMID 7508571
Noodt B B, Moan J, Kvam E and 1 more
Structural analysis of the CD2 T lymphocyte antigen by site-directed mutagenesis to introduce a disulphide bond into domain 1.
Protein engineering | 1993-11-01 | PMID 7508627
Gray F, Cyster J G, Willis A C and 2 more
alpha-Fetoprotein producing gastric carcinomas: a comparative study of three different subtypes.
Acta pathologica japonica | 1993-11-01 | PMID 7508672
Motoyama T, Aizawa K, Watanabe H and 2 more
Genes: AFP
Beta-S gene cluster haplotypes modulate hematologic and hemorheologic expression in sickle cell anemia. Use in predicting clinical severity.
The American journal of pediatric hematology/oncology | 1994-02-01 | PMID 7508688
Powars D R, Meiselman H J, Fisher T C and 2 more
Search for a third susceptibility gene for maturity-onset diabetes of the young. Studies with eleven candidate genes.
Diabetes | 1994-03-01 | PMID 7508874
Vaxillaire M, Vionnet N, Vigouroux C and 7 more
The large type II 70-kDa keratin of mouse epidermis is the ortholog of human keratin K2e.
The Journal of investigative dermatology | 1994-02-01 | PMID 7508961
Herzog F, Winter H, Schweizer J
Heterosexual transmission of human immunodeficiency virus type 1 variants associated with zidovudine resistance.
The Journal of infectious diseases | 1994-02-01 | PMID 7508970
Conlon C P, Klenerman P, Edwards A and 2 more
Antigenic determinants of measles virus hemagglutinin associated with neurovirulence.
Journal of virology | 1994-03-01 | PMID 7508996
Liebert U G, Flanagan S G, Löffler S and 3 more
Minimal sequence requirements of a functional human immunodeficiency virus type 1 primer binding site.
Journal of virology | 1994-03-01 | PMID 7508999
Wakefield J K, Rhim H, Morrow C D
Nevirapine resistance mutations of human immunodeficiency virus type 1 selected during therapy.
Journal of virology | 1994-03-01 | PMID 7509000
Richman D D, Havlir D, Corbeil J and 7 more
Antigenicity of the N8 influenza A virus neuraminidase: existence of an epitope at the subunit interface of the neuraminidase.
Journal of virology | 1994-03-01 | PMID 7509002
Saito T, Taylor G, Laver W G and 2 more
Constitutive production of IL-6 in the anemic mice of W/Wv genotype.
Leukemia research | 1994-02-01 | PMID 7509015
Yanai T, Sugimoto K, Tsuji T and 2 more
Transformation by polyoma virus middle T-antigen involves the binding and tyrosine phosphorylation of Shc.
Nature | 1994-01-06 | PMID 7509037
Dilworth S M, Brewster C E, Jones M D and 3 more
Sequential interactions of the TCR with two distinct cytoplasmic tyrosine kinases.
Science (New York, N.Y.) | 1994-02-25 | PMID 7509083
Iwashima M, Irving B A, van Oers N S and 2 more
Viral resistance to the thiazolo-iso-indolinones, a new class of nonnucleoside inhibitors of human immunodeficiency virus type 1 reverse transcriptase.
Antimicrobial agents and chemotherapy | 1993-12-01 | PMID 7509144
Maass G, Immendoerfer U, Koenig B and 4 more
Effect of alpha thalassaemia trait and enhanced gamma chain production on disease severity in beta thalassaemia major and intermedia.
Archives of disease in childhood | 1994-01-01 | PMID 7509151
Gringras P, Wonke B, Old J and 4 more
Effects of amino acid replacements on the reductive unfolding kinetics of pancreatic trypsin inhibitor.
Biochemistry | 1994-02-08 | PMID 7509189
Mendoza J A, Jarstfer M B, Goldenberg D P
Palindromic repeated sequences (PRSs) in the mitochondrial genome of rice: evidence for their insertion after divergence of the genus Oryza from the other Gramineae.
Plant molecular biology | 1994-01-01 | PMID 7509206
Nakazono M, Kanno A, Tsutsumi N and 1 more
Characterization of cultured mast cells derived from Ws/Ws mast cell-deficient rats with a small deletion at tyrosine kinase domain of c-kit.
Blood | 1994-02-15 | PMID 7509212
Tei H, Kasugai T, Tsujimura T and 7 more
A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.
Human molecular genetics | 1993-12-01 | PMID 7509234
Kurosawa K, Iwaki A, Miyake S and 3 more
Dissociation of TNF-alpha cytotoxic and proinflammatory activities by p55 receptor- and p75 receptor-selective TNF-alpha mutants.
The EMBO journal | 1994-02-15 | PMID 7509279
Barbara J A, Smith W B, Gamble J R and 6 more
Genes: TNF
Differences in the regulation of specific glycosylation in the pathogenesis of paroxysmal nocturnal hemoglobinuria and the Tn-syndrome.
Experimental hematology | 1994-03-01 | PMID 7509289
Thurnher M, Fehr J, Berger E G
Genes: GPI
The effect of recombinant human interleukin-3 and recombinant human granulocyte-macrophage colony-stimulating factor on Fc gamma receptor expression and antibody-dependent cellular cytotoxicity of hematopoietic progenitor cells during in vitro myeloid maturation.
Experimental hematology | 1994-03-01 | PMID 7509291
Ericson S G, Benoit N E, Mills L E and 1 more
Chromosomal localization of the protein tyrosine phosphatase G1 gene and characterization of the aberrant transcripts in human colon cancer cells.
FEBS letters | 1994-02-21 | PMID 7509295
Takekawa M, Itoh F, Hinoda Y and 5 more
Genes: DLD
394delTT: a Nordic cystic fibrosis mutation.
Human genetics | 1994-02-01 | PMID 7509310
Schwartz M, Anvret M, Claustres M and 5 more
Genes: CFTR
Cystic fibrosis in a low-incidence population: two major mutations in Finland.
Human genetics | 1994-02-01 | PMID 7509311
Kere J, Estivill X, Chillón M and 5 more
DNA variation in the genes of the Na,K-adenosine triphosphatase and its relation with resting metabolic rate, respiratory quotient, and body fat.
The Journal of clinical investigation | 1994-02-01 | PMID 7509349
Dériaz O, Dionne F, Pérusse L and 4 more
Rheumatoid factors from the peripheral blood of two patients with rheumatoid arthritis are genetically heterogeneous and somatically mutated.
The Journal of clinical investigation | 1994-02-01 | PMID 7509350
Youngblood K, Fruchter L, Ding G and 3 more
Zidovudine treatment results in the selection of human immunodeficiency virus type 1 variants whose genotypes confer increasing levels of drug resistance.
The Journal of general virology | 1994-02-01 | PMID 7509370
Kellam P, Boucher C A, Tijnagel J M and 1 more
pp60c-src enhances the acetylcholine receptor-dependent catecholamine release in vaccinia virus-infected bovine adrenal chromaffin cells.
Journal of neurochemistry | 1994-03-01 | PMID 7509377
Ely C M, Tomiak W M, Allen C M and 3 more
The species selectivity of chemically distinct tachykinin nonpeptide antagonists is dependent on common divergent residues of the rat and human neurokinin-1 receptors.
Molecular pharmacology | 1994-02-01 | PMID 7509441
Jensen C J, Gerard N P, Schwartz T W and 1 more
Experimental investigation of an RNA sequence space.
Origins of life and evolution of the biosphere : the journal of the International Society for the Study of the Origin of Life | 1993-12-01 | PMID 7509477
Lee Y H, Dsouza L, Fox G E
RNA based evolutionary optimization.
Origins of life and evolution of the biosphere : the journal of the International Society for the Study of the Origin of Life | 1993-12-01 | PMID 7509478
Schuster P
Human leukocyte antigen subtype analysis in patients with advanced adenocarcinoma of the prostate.
The Prostate | 1994-01-01 | PMID 7509482
Akdaş A, Türkeri L, Alican Y and 2 more
Genetic analysis of Hispanic individuals with cystic fibrosis.
American journal of human genetics | 1994-03-01 | PMID 7509564
Grebe T A, Seltzer W K, DeMarchi J and 7 more
Identification and characterization of a new plasmid carrying genes for degradation of 2,4-dichlorophenoxyacetate from Pseudomonas cepacia CSV90.
Applied and environmental microbiology | 1994-01-01 | PMID 7509586
Bhat M A, Tsuda M, Horiike K and 3 more
Gene structure, polymorphism and mapping of the human endothelial nitric oxide synthase gene.
Biochemical and biophysical research communications | 1994-02-15 | PMID 7509596
Nadaud S, Bonnardeaux A, Lathrop M and 1 more
Genetic polymorphism of inter-alpha-trypsin inhibitor (ITI) in the Basque Country (northern Spain).
International journal of legal medicine | 1993-01-01 | PMID 7509617
García O, Alonso A, Aguirre A and 2 more
Chromosome 10 allelic loss in malignant melanoma.
Genes, chromosomes & cancer | 1993-11-01 | PMID 7509626
Isshiki K, Elder D E, Guerry D and 1 more
Sensitivity of HIV-1 reverse transcriptase and its mutants to inhibition by azidothymidine triphosphate.
Biochemistry | 1994-03-01 | PMID 7509634
Carroll S S, Geib J, Olsen D B and 3 more
The fastest genome evolution ever described: HIV variation in situ.
Current opinion in genetics & development | 1993-12-01 | PMID 7509668
Wain-Hobson S
Expression of CD44 in human lung tumors.
Cancer research | 1994-03-01 | PMID 7509720
Penno M B, August J T, Baylin S B and 6 more
Molecular cloning of pancreatic group I phospholipase A2 receptor.
The Journal of biological chemistry | 1994-02-25 | PMID 7509792
Ishizaki J, Hanasaki K, Higashino K and 4 more
Tyrosine residue 719 of the c-kit receptor is essential for binding of the P85 subunit of phosphatidylinositol (PI) 3-kinase and for c-kit-associated PI 3-kinase activity in COS-1 cells.
The Journal of biological chemistry | 1994-02-25 | PMID 7509796
Serve H, Hsu Y C, Besmer P
DNFB contact sensitivity (CS) in BALB/c and C3H/He mice: requirement for early-occurring, early-acting, antigen-specific, CS-initiating cells with an unusual phenotype (Thy-1+, CD5+, CD3-, CD4-, CD8-, sIg-, B220+, MHC class II-, CD23+, IL-2R-, IL-3R+, Mel-14-, Pgp-1+, J11d+, MAC-1+, LFA-1+, and Fc gamma RII+).
The Journal of investigative dermatology | 1994-03-01 | PMID 7509836
Ishii N, Takahashi K, Nakajima H and 2 more
Epidermolytic hyperkeratosis: applied molecular genetics.
The Journal of investigative dermatology | 1994-03-01 | PMID 7509838
DiGiovanna J J, Bale S J
Beta 2-adrenoceptor agonists regulate the IL-4-induced phenotypical changes and IgE-dependent functions in normal human monocytes.
Journal of leukocyte biology | 1994-03-01 | PMID 7509842
Paul-Eugène N, Kolb J P, Damais C and 5 more
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 1994-03-01 | PMID 7509865
Jinnah H A, Wojcik B E, Hunt M and 6 more
Reduced but accurate translation from a mutant AUA initiation codon in the mitochondrial COX2 mRNA of Saccharomyces cerevisiae.
Molecular & general genetics : MGG | 1994-02-01 | PMID 7510017
Mulero J J, Fox T D
Metabolic activation of four drugs in the eye mosaic assay measuring principally mitotic recombination in Drosophila melanogaster: differences in strain susceptibility and route of exposure.
Mutation research | 1994-03-01 | PMID 7510026
Rodriguez-Arnaiz R, Aranda J H
Toluene embryopathy: delineation of the phenotype and comparison with fetal alcohol syndrome.
Pediatrics | 1994-02-01 | PMID 7510061
Pearson M A, Hoyme H E, Seaver L H and 1 more
Premature strand transfer by the HIV-1 reverse transcriptase during strong-stop DNA synthesis.
Nucleic acids research | 1994-01-25 | PMID 7510065
Klaver B, Berkhout B
Fidelity of HIV-1 reverse transcriptase copying a hypervariable region of the HIV-1 env gene.
Virology | 1994-03-01 | PMID 7510083
Ji J, Loeb L A
The interferon-induced double-stranded RNA-activated protein kinase induces apoptosis.
Virology | 1994-03-01 | PMID 7510087
Lee S B, Esteban M
Oligodendrocyte lysis by CD4+ T cells independent of tumor necrosis factor.
Annals of neurology | 1994-03-01 | PMID 7510099
Antel J P, Williams K, Blain M and 2 more
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.
Blood | 1994-03-15 | PMID 7510147
Craig J E, Barnetson R A, Prior J and 2 more
Distinct molecular mechanism regulate cell cycle timing at successive stages of Drosophila embryogenesis.
Genes & development | 1994-02-15 | PMID 7510257
Edgar B A, Sprenger F, Duronio R J and 2 more
Serological responses to different genotypes of hepatitis C virus in France.
Journal of clinical microbiology | 1994-01-01 | PMID 7510309
Alonso C, Qu D, Lamelin J P and 7 more
Modified CAMP test for biogrouping Vibrio cholerae O1 strains and distinguishing them from strains of V. cholerae non-O1.
Journal of clinical microbiology | 1994-01-01 | PMID 7510310
Lesmana M, Subekti D, Tjaniadi P and 1 more
Genes: CAMP