-
1
المؤلفون: George H. Elder, Pauline Harper, Jean-Charles Deybach, Sverre Sandberg, Michael Norman Badminton
المصدر: Journal of Inherited Metabolic Disease. 36:849-857
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Carcinoma, Hepatocellular, Adolescent, Protoporphyria, Erythropoietic, Variegate porphyria, Prevalence, Porphyrias, Young Adult, Genetics, medicine, Humans, Porphyria cutanea tarda, Prospective Studies, Child, skin and connective tissue diseases, Genetics (clinical), Aged, Acute intermittent porphyria, Aged, 80 and over, business.industry, Incidence, Incidence (epidemiology), Liver Neoplasms, Infant, nutritional and metabolic diseases, Porphobilinogen Synthase, Coproporphyria, Hereditary, Middle Aged, medicine.disease, Porphyrias, Hepatic, Surgery, Europe, Porphyria, Hereditary coproporphyria, Child, Preschool, Porphyria, Acute Intermittent, Female, Porphyria, Variegate, Erythropoietic protoporphyria, business
-
2
المؤلفون: Clifford M. Lawrence, Gillian M. Murphy, Pamela Gover, Michael Norman Badminton, Gillian S. Masters, George H. Elder, Ghulam J. Mufti, Sharon D. Whatley, Robert Sarkany, Sally H. Ibbotson
المصدر: Journal of Investigative Dermatology. 131(5):1172-1175
مصطلحات موضوعية: Myeloid Malignancy, medicine.medical_specialty, business.industry, Congenital erythropoietic porphyria, Cell Biology, Dermatology, medicine.disease, Biochemistry, Erythropoietic uroporphyria, Endocrinology, Internal medicine, Erythropoietic porphyria, Immunology, Medicine, business, Molecular Biology
-
3
المؤلفون: Andrew G. Smith, George H Elder
المصدر: Chemical Research in Toxicology. 23:712-723
مصطلحات موضوعية: Polychlorinated Dibenzodioxins, Porphyrins, Iron, Uroporphyrinogen III decarboxylase, Biology, Toxicology, Pathogenesis, Mice, medicine, Animals, Humans, Uroporphyrinogen Decarboxylase, Porphyria cutanea tarda, Gene, Hemochromatosis, Genetic association, Genetics, Photosensitizing Agents, General Medicine, medicine.disease, Penetrance, Porphyrias, Hepatic, Disease Models, Animal, Liver, Biochemistry, Genetic marker
-
4
المؤلفون: George H. Elder, Michael Norman Badminton, S.A. Holme, Alexander Vincent Anstey, Nicola G. Mason, Sharon D. Whatley
المصدر: British Journal of Dermatology. 162:642-646
مصطلحات موضوعية: Genetics, Mutation, Molecular epidemiology, biology, business.industry, Dermatology, Ferrochelatase, medicine.disease_cause, medicine.disease, Porphyria, medicine, biology.protein, Missense mutation, Erythropoietic protoporphyria, Allele, business, Gene
-
5
المؤلفون: Jean-Charles Deybach, Carole Beaumont, Bernard Grandchamp, P.N. Meissner, Richard J Hift, Hervé Puy, Laurent Gouya, Michael Norman Badminton, Alexander Vincent Anstey, Michelle Parker, Yun Ma, S. Alexander Holme, Joanne T Marsden, Sharon D. Whatley, Anne V. Corrigall, Sarah Ducamp, George H. Elder, Giorgina Mieli-Vergani
المصدر: The American Journal of Human Genetics. 83:408-414
مصطلحات موضوعية: Male, Erythrocytes, Anemia, Protoporphyrins, Heme, Biology, chemistry.chemical_compound, Sideroblastic anemia, Report, Genetics, medicine, Humans, Genetics(clinical), Gene, Genetics (clinical), chemistry.chemical_classification, Chromosomes, Human, X, medicine.disease, ALAS2, Porphyrias, Hepatic, Enzyme, Porphyria, chemistry, Mutation, Female, Protoporphyrin, 5-Aminolevulinate Synthetase
-
6
المؤلفون: Alexander Vincent Anstey, Nicola G. Mason, George H. Elder, Michael Norman Badminton, S. Alexander Holme, Sharon D. Whatley
المصدر: Journal of Investigative Dermatology. 127:2790-2794
مصطلحات موضوعية: Protoporphyria, Erythropoietic, DNA Mutational Analysis, Gene Dosage, Protoporphyrins, Dermatology, medicine.disease_cause, Polymerase Chain Reaction, Sensitivity and Specificity, Biochemistry, Gene dosage, Exon, medicine, Humans, Molecular Biology, Gene, Family Health, Genetics, Mutation, biology, Haplotype, Exons, Sequence Analysis, DNA, Cell Biology, Ferrochelatase, medicine.disease, Porphyria, Haplotypes, biology.protein, Erythropoietic protoporphyria, Gene Deletion, Microsatellite Repeats
-
7
المؤلفون: Andrew Yule Finlay, Stephen Alexander Holme, George H. Elder, Michael Norman Badminton, Alexander Vincent Anstey
المصدر: British Journal of Dermatology. 155:574-581
مصطلحات موضوعية: Pregnancy, medicine.medical_specialty, Exacerbation, business.industry, Dermatology, Dermatology Life Quality Index, medicine.disease, Surgery, Quality of life, Internal medicine, Severity of illness, medicine, Erythropoietic protoporphyria, Family history, Age of onset, business
-
8
المؤلفون: S. Chinarro, George H. Elder, M.L. Villaseca, P. Lazaro, R.E. De Salamanca, G. Jaqueti
المصدر: British Journal of Dermatology. 110:613-617
مصطلحات موضوعية: Male, medicine.medical_specialty, Erythrocytes, Porphyrins, Carboxy-Lyases, Uroporphyrinogen III decarboxylase, Dermatology, Biology, Skin Diseases, Porphyrias, Suppression, Genetic, Internal medicine, medicine, Uroporphyrinogen decarboxylase deficiency, Humans, Uroporphyrinogen Decarboxylase, Erythropoiesis, Porphyria cutanea tarda, Uroporphyrinogen decarboxylase activity, Liver Diseases, Hepatoerythropoietic porphyria, Homozygote, medicine.disease, Pedigree, Endocrinology, Child, Preschool
-
9
المؤلفون: George H. Elder, Michael Norman Badminton
المصدر: Journal of Inherited Metabolic Disease. 28:277-286
مصطلحات موضوعية: Porphyria Cutanea Tarda, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Porphyria, Erythropoietic, Variegate porphyria, Porphyrias, Internal medicine, Genetics, medicine, Humans, Porphyria cutanea tarda, skin and connective tissue diseases, Genetics (clinical), Genes, Dominant, Acute intermittent porphyria, biology, nutritional and metabolic diseases, Ferrochelatase, medicine.disease, Penetrance, Endocrinology, Porphyria, Hereditary coproporphyria, Porphyria, Acute Intermittent, biology.protein, Erythropoietic protoporphyria
-
10
المؤلفون: Nadia Gorman, Heidi W. Trask, William J. Bement, Juliana G. Szakacs, George H. Elder, Dominic Balestra, Nicholas J. Jacobs, Judith M. Jacobs, Jacqueline F. Sinclair, Glenn S. Gerhard, Peter R. Sinclair Ph.D.
المصدر: Hepatology. 40:942-950
مصطلحات موضوعية: Hepatology
-
11
المؤلفون: Judith M. Jacobs, Jacqueline F. Sinclair, Dominic J. Balestra, William J. Bement, Glenn S. Gerhard, Nicholas J. Jacobs, Nadia Gorman, George H. Elder, Peter R. Sinclair, Juliana G. Szakacs, Heidi W. Trask
المصدر: Hepatology. 40:942-950
مصطلحات موضوعية: Male, Porphyria Cutanea Tarda, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Alcohol Drinking, Iron, Alcohol, Biology, Mice, chemistry.chemical_compound, Cytochrome P-450 CYP1A2, Internal medicine, medicine, Animals, Porphyria cutanea tarda, Uroporphyrins, Hemochromatosis Protein, Uroporphyrinogen decarboxylase activity, Hemochromatosis, Ethanol, Hepatology, Histocompatibility Antigens Class I, CYP1A2, Central Nervous System Depressants, Membrane Proteins, medicine.disease, Mice, Mutant Strains, Mice, Inbred C57BL, medicine.anatomical_structure, Endocrinology, Liver, chemistry, Hepatocyte, Hereditary hemochromatosis, Iron-Dextran Complex, 5-Aminolevulinate Synthetase
-
12
المؤلفون: Jean-Charles Deybach, Hervé Puy, Jérôme Lamoril, Vasco Da Silva, Jacqueline Woolf, George H. Elder, Sharon D. Whatley, Caroline Martin
المصدر: The American Journal of Human Genetics. 68(5):1130-1138
مصطلحات موضوعية: Male, Coproporphyrins, Porphyrins, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Frameshift mutation, Coproporphyrinogen Oxidase, Feces, Coproporphyrinogen oxidase activity, Gene Frequency, medicine, Escherichia coli, Genetics, Missense mutation, Humans, Genetics(clinical), Amino Acid Sequence, Promoter Regions, Genetic, Genetics (clinical), Phylogeny, Mutation, Harderoporphyria, Exons, Articles, medicine.disease, United Kingdom, Pedigree, Porphyrias, Hepatic, Hereditary coproporphyria, Phenotype, Amino Acid Substitution, Female, RNA Splice Sites, Sequence Alignment
-
13
المؤلفون: S.G. Keohane, D_f. Barrett, R.A. Palmer, George H. Elder
المصدر: British Journal of Dermatology. 144:866-869
مصطلحات موضوعية: Adult, Heterozygote, Oxidoreductases Acting on CH-CH Group Donors, Variegate porphyria, Dermatology, Biology, Compound heterozygosity, medicine.disease_cause, Mitochondrial Proteins, Exon, medicine, Humans, Protoporphyrinogen Oxidase, Allele, Genetics, Mutation, Splice site mutation, Flavoproteins, medicine.disease, Pedigree, Porphyrias, Hepatic, Mutation testing, Female, Protoporphyrinogen oxidase, Oxidoreductases, Facial Dermatoses
-
14
المؤلفون: Andrew G. Roberts, George H. Elder
المصدر: Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1518:95-105
مصطلحات موضوعية: Gene isoform, DNA, Complementary, Transcription, Genetic, TATA box, Molecular Sequence Data, Response element, Biophysics, Biology, Biochemistry, Gene Expression Regulation, Enzymologic, Mice, Structural Biology, Transcription (biology), Genetics, Animals, Humans, Tissue Distribution, Gene, Messenger RNA, Binding Sites, Base Sequence, Alternative splicing, Promoter, Exons, TATA Box, Molecular biology, Rats, Alternative Splicing, Mutagenesis, 5-Aminolevulinate Synthetase, HeLa Cells
-
15
المؤلفون: Andrew G. Roberts, George H. Elder, Sharon D. Whatley, Christine Garrett, Christopher P. Bennett, David H. Llewellyn
المصدر: Human Genetics. 107:243-248
مصطلحات موضوعية: Adult, Male, Gene isoform, Adolescent, Porphyria, Erythropoietic, Porphobilinogen deaminase, Molecular Sequence Data, Biology, Frameshift mutation, Exon, Genetics, Humans, Protein Isoforms, Coding region, Frameshift Mutation, Promoter Regions, Genetic, Gene, Genetics (clinical), Binding Sites, Base Sequence, Promoter, Exons, Molecular biology, Stop codon, Hydroxymethylbilane Synthase, Child, Preschool, Porphyria, Acute Intermittent, Transcription Factor TFIIB, Female, Transcription Factors
-
16
المؤلفون: George H. Elder, Sharon D. Whatley, Jackie R. Woolf
المصدر: Human Genetics. 104:505-510
مصطلحات موضوعية: DNA, Complementary, Hydroxymethylbilane Synthase, Mutation, Missense, Biology, medicine.disease_cause, Exon, Genetics, medicine, Humans, Point Mutation, Missense mutation, Frameshift Mutation, Gene, Genetics (clinical), Acute intermittent porphyria, Mutation, Polymorphism, Genetic, Exons, Sequence Analysis, DNA, medicine.disease, Introns, United Kingdom, genomic DNA, Porphyria, Acute Intermittent, Allelic heterogeneity, Gene Deletion
-
17
المؤلفون: George H. Elder
المصدر: Seminars in Liver Disease. 18:67-75
مصطلحات موضوعية: Porphyria Cutanea Tarda, Liver injury, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Hepatology, business.industry, Liver cell, Uroporphyrinogen III decarboxylase, Hepatitis C, medicine.disease, Penetrance, chemistry.chemical_compound, Endocrinology, chemistry, Internal medicine, parasitic diseases, Humans, Uroporphyrinogen Decarboxylase, Medicine, Porphyria cutanea tarda, business, Uroporphyrinogen decarboxylase activity, Heme, hormones, hormone substitutes, and hormone antagonists
-
18
المؤلفون: S. Faisal Ahmed, David Ah-Moye, Roopen Arya, Ruth M. Ayling, Michael N. Badminton, Graham R. Bayly, Sarah Belsey, Robin Berry, Laurence A. Bindoff, Ingvar T. Bjarnason, Adrian Bomford, Helen Bruce, Fiona Carragher, Carrie Chadwick, Mike Champion, Timothy Cundy, Ceinwen Davies, Teifion Davies, Zoe Davies, Anne Dawnay, Colin M. Dayan, James W. Dear, James E. East, George H. Elder, Robert J. Flanagan, Rebecca Frewin, Clare M. Galtrey, Philip Gillen, Roberta Goodall, Joanne Goody, Andrew Grey, Mike Hallworth, Paul Hart, Peter Hayward, Trevor A. Howlett, Min Htut, Jeremy G. Jones, Geoffrey Keir, Mourad H. Labib, Marta Lapsley, Terhi Launiainen, Miles J. Levy, Clodagh M. Loughrey, Jane D. McNeilly, David Makanjuola, William J. Marshall, John Miell, Onyebuchi E. Okosieme, Dominic C. Paviour, Michael D. Penney, David C. Rees, Ian R. Reid, Pamela G. Riches, Leslie D. Ross, Ian W. Seetho, Joanna Sheldon, Roy A. Sherwood, Catharine M. Sturgeon, Peter Taylor, Wassif S. Wassif, Rachel D. Wheeler, John P.H. Wilding, David B. Wile, Ian S. Young
-
19
-
20
المؤلفون: Sharon D. Whatley, George H. Elder, Michael Norman Badminton
المصدر: Handbook of Porphyrin Science (Volume 29): With Applications to Chemistry, Physics, Materials Science, Engineering, Biology and Medicine — Volume 29: Porphyrias and Sideroblastic Anemias
مصطلحات موضوعية: Molecular epidemiology, business.industry, Medicine, business, Bioinformatics