Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Blood | 1999-03-15 | PMID 10068685
Gouya L, Puy H, Lamoril J and 4 more
Genes: FECH
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 1111 of 10600
Genetic Simulation Library.
Bioinformatics (Oxford, England) | 1999-01-01 | PMID 10068695
Conery J, Lynch M
Cell growth and death in malignant lymphomas. A quantitative analysis.
Analytical and quantitative cytology and histology | 1999-02-01 | PMID 10068779
Leoncini L, Del Vecchio M T, Spina D and 4 more
Diversity of isolates of Rhodococcus equi from Australian thoroughbred horse farms.
Antonie van Leeuwenhoek | 2000-01-01 | PMID 10068785
Morton A C, Baseggio N, Peters M A and 1 more
Expression of c-erb B-2 oncoprotein in cancer of the larynx in relation to invasion of the cartilagenous framework and prognosis.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | 1999-01-01 | PMID 10068894
Tantawy A, Youins L, Hamza M
Heterogeneity and susceptibility to apoptosis of human renal carcinoma cells in vitro.
European journal of histochemistry : EJH | 1998-01-01 | PMID 10068906
Dell'Antonio G, Rovere P, Mangili F and 1 more
Genes: EGF
In vitro production of IFN-gamma correlates with CA repeat polymorphism in the human IFN-gamma gene.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1999-02-01 | PMID 10068907
Pravica V, Asderakis A, Perrey C and 3 more
Cis-trans complementation of DQA1-DQB1 genes are modulated by DQ alleles: an immunogenetics analysis of DQ association with the down-regulatory function of CD8 cells in trichosanthin-induced immunosuppression.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1999-02-01 | PMID 10068908
Chou K Y, Fu S L, Li N L and 4 more
HLA-DQA1 alleles and the presence of Helicobacter pylori antibodies.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1999-02-01 | PMID 10068909
Karhukorpi J, Ikäheimo I, Silvennoinen-Kassinen S and 2 more
HLA-DR/DQ interaction in patients with erosive rheumatoid arthritis presenting articular and extraarticular disease manifestations.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1999-02-01 | PMID 10068910
Seidl C, Kässer U R, Fischer B and 11 more
Phenotype analysis of peripheral blood mononuclear cells in periparturient dairy cows.
Journal of dairy science | 1999-02-01 | PMID 10068953
Kimura K, Goff J P, Kehrli M E and 1 more
In vivo and in vitro cloning and phenotype characterization of tellurite resistance determinant conferred by plasmid pTE53 of a clinical isolate of Escherichia coli.
Folia microbiologica | 1998-01-01 | PMID 10069007
Burian J, Tu N, Kl'ucár L and 6 more
Cytochrome P450 2D6 (CYP2D6) genotyping on postmortem blood as a supplementary tool for interpretation of forensic toxicological results.
Forensic science international | 1999-01-04 | PMID 10069020
Druid H, Holmgren P, Carlsson B and 1 more
Comparative analysis of S haplotypes with very similar SLG alleles in Brassica rapa and Brassica oleracea.
The Plant journal : for cell and molecular biology | 1999-01-01 | PMID 10069069
Kusaba M, Nishio T
X-linked hypophosphataemia: a homologous disorder in humans and mice.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 1999-02-01 | PMID 10069185
Tenenhouse H S
Genes: PHEX
Retarded growth and deficits in the enteric and parasympathetic nervous system in mice lacking GFR alpha2, a functional neurturin receptor.
Neuron | 1999-02-01 | PMID 10069331
Rossi J, Luukko K, Poteryaev D and 11 more
Genes: GDNF, GPI
Distinct functions of alpha3 and alpha(v) integrin receptors in neuronal migration and laminar organization of the cerebral cortex.
Neuron | 1999-02-01 | PMID 10069334
Anton E S, Kreidberg J A, Rakic P
Profilin and the Abl tyrosine kinase are required for motor axon outgrowth in the Drosophila embryo.
Neuron | 1999-02-01 | PMID 10069335
Wills Z, Marr L, Zinn K and 2 more
The tyrosine kinase Abl and its substrate enabled collaborate with the receptor phosphatase Dlar to control motor axon guidance.
Neuron | 1999-02-01 | PMID 10069336
Wills Z, Bateman J, Korey C A and 2 more
Mena is required for neurulation and commissure formation.
Neuron | 1999-02-01 | PMID 10069337
Lanier L M, Gates M A, Witke W and 6 more
The odor specificities of a subset of olfactory receptor neurons are governed by Acj6, a POU-domain transcription factor.
Neuron | 1999-02-01 | PMID 10069339
Clyne P J, Certel S J, de Bruyne M and 3 more
Mitochondrial DNA sequence diversity in Russians.
FEBS letters | 1999-02-19 | PMID 10069400
Orekhov V, Poltoraus A, Zhivotovsky L A and 3 more
MHC class II gene associations with autoantibodies to U1A and SmD1 proteins.
International immunology | 1999-02-01 | PMID 10069423
Dumortier H, Abbal M, Fort M and 3 more
P53, p15INK4B, p16INK4A and p57KIP2 mutations during the progression of chronic myeloid leukemia.
Haematologia | 1998-01-01 | PMID 10069444
Güran S, Bahçe M, Beyan C and 2 more
Genes: AGT, GCG
Mismatch repair and differential sensitivity of mouse and human cells to methylating agents.
Carcinogenesis | 1999-02-01 | PMID 10069455
Humbert O, Fiumicino S, Aquilina G and 5 more
Genes: MSH2
MSH3 deficiency is not sufficient for a mutator phenotype in Chinese hamster ovary cells.
Carcinogenesis | 1999-02-01 | PMID 10069456
Hinz J M, Meuth M
Genes: MSH3, MSH6, MSH2
Possible carcinogenic effects of X-rays in a transgenerational study with CBA mice.
Carcinogenesis | 1999-02-01 | PMID 10069472
Mohr U, Dasenbrock C, Tillmann T and 10 more
Structure-function analysis of muscarinic receptors and their associated G proteins.
Life sciences | 1999-01-01 | PMID 10069496
Kostenis E, Zeng F Y, Wess J
Batten disease: four genes and still counting.
Neurobiology of disease | 1998-11-01 | PMID 10069573
Mole S E
Genes: NCL
Response of hyperhomocysteinemia to folic acid supplementation in patients with end-stage renal disease.
Clinical nephrology | 1999-02-01 | PMID 10069646
Dierkes J, Domröse U, Ambrosch A and 3 more
Apo E phenotype and changes in serum lipids in adult patients during growth hormone replacement.
European journal of endocrinology | 1999-02-01 | PMID 10069664
Leese G P, Wallymahmed M, Wieringa G and 2 more
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.
American journal of medical genetics | 1999-02-19 | PMID 10069706
Zollino M, Wright T J, Di Stefano C and 4 more
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
American journal of medical genetics | 1999-02-19 | PMID 10069710
Passos-Bueno M R, Vainzof M, Moreira E S and 1 more
Genes: CAPN3, DMD
Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians.
American journal of medical genetics | 1999-02-19 | PMID 10069711
Castro E, Ogburn C E, Hunt K E and 12 more
Genes: WRN, APOE
Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.
American journal of medical genetics | 1999-02-19 | PMID 10069712
Milunsky J, Suntra C, MacDonald C B
Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.
American journal of medical genetics | 1999-02-19 | PMID 10069716
Schulze B R, Horn D, Kobelt A and 2 more
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
American journal of medical genetics | 1999-02-19 | PMID 10069717
Knol I E, Ausems M G, Lindhout D and 5 more
Infrequent translation of a nonsense codon is sufficient to decrease mRNA level.
Molecular biology of the cell | 1999-03-01 | PMID 10069800
Buzina A, Shulman M J
Phosphorylation of tyrosine 992, 1068, and 1086 is required for conformational change of the human epidermal growth factor receptor c-terminal tail.
Molecular biology of the cell | 1999-03-01 | PMID 10069801
Bishayee A, Beguinot L, Bishayee S
Genes: EGF
The multisubstrate docking site of the MET receptor is dispensable for MET-mediated RAS signaling and cell scattering.
Molecular biology of the cell | 1999-03-01 | PMID 10069803
Tulasne D, Paumelle R, Weidner K M and 2 more
Genes: MET, GAB1, GRB2
GCS1, an Arf guanosine triphosphatase-activating protein in Saccharomyces cerevisiae, is required for normal actin cytoskeletal organization in vivo and stimulates actin polymerization in vitro.
Molecular biology of the cell | 1999-03-01 | PMID 10069805
Blader I J, Cope M J, Jackson T R and 5 more
Genes: SLA2
Mutations at phosphorylation sites of Xenopus microtubule-associated protein 4 affect its microtubule-binding ability and chromosome movement during mitosis.
Molecular biology of the cell | 1999-03-01 | PMID 10069806
Shiina N, Tsukita S
Genes: MAP4
Genetic interactions between KAR7/SEC71, KAR8/JEM1, KAR5, and KAR2 during nuclear fusion in Saccharomyces cerevisiae.
Molecular biology of the cell | 1999-03-01 | PMID 10069807
Brizzio V, Khalfan W, Huddler D and 4 more
Genes: SEC63
MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast.
Molecular biology of the cell | 1999-03-01 | PMID 10069808
Gaynor E C, Mondésert G, Grimme S J and 3 more
Genes: GPI
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.
Molecular biology of the cell | 1999-03-01 | PMID 10069810
Neff N F, Ellis N A, Ye T Z and 4 more
Genes: BLM
Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas.
Molecular biology of the cell | 1999-03-01 | PMID 10069812
Porter M E, Bower R, Knott J A and 2 more
Visualization of receptor-mediated endocytosis in yeast.
Molecular biology of the cell | 1999-03-01 | PMID 10069819
Mulholland J, Konopka J, Singer-Kruger B and 2 more
The Arabidopsis dwarf1 mutant is defective in the conversion of 24-methylenecholesterol to campesterol in brassinosteroid biosynthesis.
Plant physiology | 1999-03-01 | PMID 10069828
Choe S, Dilkes B P, Gregory B D and 9 more
Phytochrome D acts in the shade-avoidance syndrome in Arabidopsis by controlling elongation growth and flowering time.
Plant physiology | 1999-03-01 | PMID 10069829
Devlin P F, Robson P R, Patel S R and 3 more
Mannose inhibits Arabidopsis germination via a hexokinase-mediated step.
Plant physiology | 1999-03-01 | PMID 10069839
Pego J V, Weisbeek P J, Smeekens S C
Further studies of the role of cyclic beta-glucans in symbiosis. An NdvC mutant of Bradyrhizobium japonicum synthesizes cyclodecakis-(1-->3)-beta-glucosyl.
Plant physiology | 1999-03-01 | PMID 10069844
Bhagwat A A, Mithöfer A, Pfeffer P E and 5 more
The mechanism of rhythmic ethylene production in sorghum. The role of phytochrome B and simulated shading.
Plant physiology | 1999-03-01 | PMID 10069847
Finlayson S A, Lee I J, Mullet J E and 1 more
Behavior of pythium Torulosum zoospores during their interaction with tobacco roots and Bacillus cereus.
Current microbiology | 1999-04-01 | PMID 10069854
Shang H, Chen J, Handelsman J and 1 more
Chemotaxis of Rhizobium sp.S2 towards Cajanus cajan root exudate and its major components.
Current microbiology | 1999-04-01 | PMID 10069855
Pandya S, Iyer P, Gaitonde V and 2 more
The clinically isolated FIZ15 bacteriophage causes lysogenic conversion in Pseudomonas aeruginosa PAO1.
Current microbiology | 1999-04-01 | PMID 10069861
Vaca-Pacheco S, Paniagua-Contreras G L, García-González O and 1 more
Maturation of immune responses at the beginning of asthma.
The Journal of allergy and clinical immunology | 1999-03-01 | PMID 10069865
Martinez F D
Childhood environment and adult atopy: results from the European Community Respiratory Health Survey.
The Journal of allergy and clinical immunology | 1999-03-01 | PMID 10069874
Svanes C, Jarvis D, Chinn S and 1 more
Sequence heterogeneity within three different regions of the hepatitis G virus genome.
Virology | 1999-03-15 | PMID 10069950
Cong M, Fried M W, Lambert S and 7 more
Genetic variation of chlorella viruses: variable regions localized on the CVK2 genomic DNA.
Virology | 1999-03-15 | PMID 10069963
Nishida K, Kimura Y, Kawasaki T and 2 more
Genetic and biochemical determinants of abnormal monovalent ion transport in primary hypertension.
The American journal of physiology | 1999-03-01 | PMID 10069978
Orlov S N, Adragna N C, Adarichev V A and 1 more
Splicing of a retained intron within ROMK K+ channel RNA generates a novel set of isoforms in rat kidney.
The American journal of physiology | 1999-03-01 | PMID 10069985
Beesley A H, Ortega B, White S J
Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases.
The American journal of physiology | 1999-03-01 | PMID 10070030
Hummler E, Horisberger J D
Inhibition of hSP-B promoter in respiratory epithelial cells by a dominant negative retinoic acid receptor.
The American journal of physiology | 1999-03-01 | PMID 10070102
Ghaffari M, Whitsett J A, Yan C
Evolving perspectives in contralateral breast cancer.
European journal of cancer (Oxford, England : 1990) | 1998-12-01 | PMID 10070301
Dawson L A, Chow E, Goss P E
The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.
Journal of inherited metabolic disease | 1999-02-01 | PMID 10070614
Loeffen J, Smeets R, Smeitink J and 4 more
Genes: NDUFS5
The molecular basis of transferase galactosaemia in South African negroids.
Journal of inherited metabolic disease | 1999-02-01 | PMID 10070616
Manga N, Jenkins T, Jackson H and 2 more
Genes: GALT
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Journal of inherited metabolic disease | 1999-02-01 | PMID 10070617
Stroppiano M, Regis S, DiRocco M and 3 more
Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.
Journal of inherited metabolic disease | 1999-02-01 | PMID 10070620
Ohura T, Abukawa D, Shiraishi H and 5 more
Sequence and PCR-RFLP analysis of the internal transcribed spacers of the rDNA repeat unit in isolates of Cryptosporidium from different hosts.
Parasitology | 1999-01-01 | PMID 10070661
Morgan U M, Deplazes P, Forbes D A and 5 more
Breeding systems in Echinococcus granulosus (Cestoda; Taeniidae): selfing or outcrossing?
Parasitology | 1999-01-01 | PMID 10070663
Haag K L, Araújo A M, Gottstein B and 3 more
Scanning for nucleotide variations in mitochondrial DNA fragments of Schistosoma japonicum by single-strand conformation polymorphism.
Parasitology | 1999-01-01 | PMID 10070664
Bøgh H O, Zhu X Q, Qian B Z and 1 more
An immunohistological study of phenotypic characteristics of cells of the inflammatory response in the intestine of Schistosoma bovis-infected goats.
Parasitology | 1999-01-01 | PMID 10070666
Lindberg R, Johansen M V, Nilsson C and 1 more
Using missing data methods in genetic studies with missing mutation status.
Statistics in medicine | 1999-02-28 | PMID 10070687
Leong T, Lipsitz S R, Ibrahim J G
Detection of neutral and charged mutations in alpha- and beta-human globin chains by capillary zone electrophoresis in isoelectric, acidic buffers.
Journal of chromatography. A | 1999-02-05 | PMID 10070772
Saccomani A, Gelfi C, Wajcman H and 1 more
Gene-environment interaction in the determination of levels of haemostatic variables involved in thrombosis and fibrinolysis.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1999-02-01 | PMID 10070812
Humphries S E, Henry J A, Montgomery H E
Careful selection of sample dilution and factor-V-deficient plasma makes the modified activated protein C resistance test highly specific for the factor V Leiden mutation.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1999-01-01 | PMID 10070830
de Ronde H, Bertina R M
Genes: APC
The prothrombin 20210A allele and the factor V Leiden are associated with venous thrombosis but not with early coronary artery disease.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1999-01-01 | PMID 10070834
Vargas M, Soto I, Pinto C R and 6 more
Genes: CAD
Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions.
British journal of cancer | 1999-02-01 | PMID 10070866
Catteau A, Xu C F, Brown M A and 5 more
Genes: BRCA1
Oestrogen receptor-alpha variant mRNA expression in primary human breast tumours and matched lymph node metastases.
British journal of cancer | 1999-02-01 | PMID 10070900
Leygue E, Hall R E, Dotzlaw H and 2 more
CDKN2A variants in a population-based sample of Queensland families with melanoma.
Journal of the National Cancer Institute | 1999-03-03 | PMID 10070944
Aitken J, Welch J, Duffy D and 4 more
Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations.
Journal of the National Cancer Institute | 1999-03-03 | PMID 10070948
Phillips K A, Nichol K, Ozcelik H and 4 more
Genes: BRCA1
The relationship between a polymorphism in CYP17 with plasma hormone levels and breast cancer.
Cancer research | 1999-03-01 | PMID 10070957
Haiman C A, Hankinson S E, Spiegelman D and 5 more
Increased ultraviolet sensitivity and chromosomal instability related to P53 function in the xeroderma pigmentosum variant.
Cancer research | 1999-03-01 | PMID 10070969
Cleaver J E, Afzal V, Feeney L and 9 more
Ethylnitrosourea-induced development of malignant schwannomas in the rat: two distinct loci on chromosome of 10 involved in tumor susceptibility and oncogenesis.
Cancer research | 1999-03-01 | PMID 10070970
Kindler-Röhrborn A, Kölsch B U, Fischer C and 2 more
Correlation between angiotensin-converting enzyme gene insertion/deletion polymorphism and kidney graft long-term outcome in pediatric recipients: a single-center analysis.
Transplantation | 1999-02-27 | PMID 10071023
Barocci S, Ginevri F, Valente U and 3 more
Genes: ACE
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
Brain : a journal of neurology | 1999-02-01 | PMID 10071047
Brett M, Persey M R, Reilly M M and 6 more
Genes: TTR
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
Brain : a journal of neurology | 1999-02-01 | PMID 10071056
De Jonghe P, Timmerman V, Ceuterick C and 8 more
Genes: MPZ
The neuronal progenitor cells of the forebrain subventricular zone: intrinsic properties in vitro and following transplantation.
Methods (San Diego, Calif.) | 1998-11-01 | PMID 10071066
Brock S C, Bonsall J, Luskin M B
Generation and regulation of developing immortalized neural cell lines.
Methods (San Diego, Calif.) | 1998-11-01 | PMID 10071071
Gökhan S, Song Q, Mehler M F
Allelotyping of acute myelogenous leukemia: loss of heterozygosity at 7q31.1 (D7S486) and q33-34 (D7S498, D7S505).
Leukemia research | 1999-03-01 | PMID 10071086
Koike M, Tasaka T, Spira S and 2 more
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
Journal of neurology, neurosurgery, and psychiatry | 1999-02-01 | PMID 10071100
Bähr M, Andres F, Timmerman V and 3 more
A unique carboxy-terminus truncation mutant of the retinoic acid receptor alpha gene associated with a variant marker chromosome in a retinoic acid resistant HL-60 subline.
Leukemia research | 1999-02-01 | PMID 10071126
Brigati C, Nobile L, Fugazza G and 3 more
Alterations of the p53, p21, p16, p15 and RAS genes in childhood T-cell acute lymphoblastic leukemia.
Leukemia research | 1999-02-01 | PMID 10071127
Kawamura M, Ohnishi H, Guo S X and 10 more
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Human genetics | 1999-01-01 | PMID 10071185
Van Kuilenburg A B, Vreken P, Abeling N G and 22 more
A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH).
Human genetics | 1999-01-01 | PMID 10071189
Wenz H M, Baumhueter S, Ramachandra S and 1 more
Genes: HFE
Delineation of two distinct 6p deletion syndromes.
Human genetics | 1999-01-01 | PMID 10071194
Davies A F, Mirza G, Sekhon G and 8 more
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.
Human genetics | 1999-01-01 | PMID 10071195
den Hollander A I, van der Velde-Visser S D, Pinckers A J and 3 more
Genes: AOC2, GNGT2
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD).
Human genetics | 1999-01-01 | PMID 10071196
Kermani S, Gregory-Evans K, Tarttelin E E and 6 more
Genes: STS
Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography.
Human genetics | 1999-01-01 | PMID 10071198
Hoogendoorn B, Owen M J, Oefner P J and 3 more
Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation.
Human genetics | 1999-01-01 | PMID 10071201
Frostad Riise H M, Hansen G M, Tollersrud O K and 1 more