المؤلفون: Toomes, Carmel, Bottomley, Helen M., Scott, Sheila, Mackey, David A., Craig, Jamie E., Appukuttan, Binoy, Stout, J. Timothy, Flaxel, Christina J., Zhang, Kang, Black, Graeme C M, Fryer, Alan, Downey, Louise M., Inglehearn, Chris F.

المصدر: Toomes , C , Bottomley , H M , Scott , S , Mackey , D A , Craig , J E , Appukuttan , B , Stout , J T , Flaxel , C J , Zhang , K , Black , G C M , Fryer , A , Downey , L M & Inglehearn , C F 2004 , ' Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy ' , Investigative Ophthalmology and Visual Science , vol. 45 , no. 7 , pp. 2083-2090 . https://doi.org/10.1167/iovs.03-1044Test

مصطلحات موضوعية: Adult, Amino Acid Sequence, genetics: Chromosomes, Human, Pair 11, Comparative Study, DNA Mutational Analysis, chemistry: DNA Primers, Exudates and Transudates, Female, Gene Frequency, Heteroduplex Analysis, Humans, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Pedigree, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, genetics: Proteins, genetics: Receptors, Cell Surface, Research Support, Non-U.S. Gov't, genetics: Vitreoretinopathy, Proliferative

الإتاحة: https://doi.org/10.1167/iovs.03-1044Test
https://research.manchester.ac.uk/en/publications/dc337423-fe5e-4851-acab-d6ec036adabcTest

المؤلفون: Munier, Francis L., Frueh, Beatrice E., Othenin-Girard, Philippe, Uffer, Sylvie, Cousin, Pascal, Wang, Ming X., Héon, Elise, Black, Graeme C M, Blasi, Maria A., Balestrazzi, Emilio, Lorenz, Birgit, Escoto, Rafael, Barraquer, Rafael, Hoeltzenbein, Maria, Gloor, Balder, Fossarello, Maurizio, Singh, Arun D., Arsenijevic, Yvan, Zografos, Léonidas, Schorderet, Daniel F.

المصدر: Munier , F L , Frueh , B E , Othenin-Girard , P , Uffer , S , Cousin , P , Wang , M X , Héon , E , Black , G C M , Blasi , M A , Balestrazzi , E , Lorenz , B , Escoto , R , Barraquer , R , Hoeltzenbein , M , Gloor , B , Fossarello , M , Singh , A D , Arsenijevic , Y , Zografos , L & Schorderet , D F 2002 , ' BIGH3 mutation spectrum in corneal dystrophies ' , Investigative ....

مصطلحات موضوعية: Amino Acid Sequence, genetics: Chromosomes, Human, Pair 5, genetics: Corneal Dystrophies, Hereditary, DNA Mutational Analysis, chemistry: DNA Primers, Extracellular Matrix Proteins, Genotype, Humans, Linkage (Genetics), Molecular Sequence Data, Mutation, genetics: Neoplasm Proteins, Phenotype, Polymorphism, Single-Stranded Conformational, Research Support, Non-U.S. Gov't, genetics: Transforming Growth Factor beta

الإتاحة: https://research.manchester.ac.uk/en/publications/e3f55ea8-d0ed-4e25-9856-75a038b00dd7Test

المؤلفون: Densem, C. G., Hutchinson, I. V., Cooper, A., Yonan, N., Brooks, N. H.

المصدر: Densem , C G , Hutchinson , I V , Cooper , A , Yonan , N & Brooks , N H 2000 , ' Polymorphism of the transforming growth factor-beta 1 gene correlates with the development of coronary vasculopathy following cardiac transplantation ' , Journal of Heart and Lung Transplantation , vol. 19 , no. 6 , pp. 551-556 . https://doi.org/10.1016/S1053-2498Test(00)00114-5

مصطلحات موضوعية: Adult, Alleles, Coronary Angiography, etiology: Coronary Disease, analysis: DNA, chemistry: DNA Primers, Genetic Markers, Genotype, adverse effects: Heart Transplantation, Humans, Male, Middle Aged, Polymerase Chain Reaction, Polymorphism, Genetic, Prognosis, Retrospective Studies, genetics: Transforming Growth Factor beta

الإتاحة: https://doi.org/10.1016/S1053-2498Test(00)00114-5
https://research.manchester.ac.uk/en/publications/a5f51f24-5641-42b6-95cd-4a310c14c3e3Test

المؤلفون: Cooper, Robert, Elnifro, Elfath M., Cooper, Robert J., Klapper, Paul E., Yeo, Adrian C., Tullo, Andrew B.

المصدر: Cooper , R , Elnifro , E M , Cooper , R J , Klapper , P E , Yeo , A C & Tullo , A B 2000 , ' Multiplex polymerase chain reaction for diagnosis of viral and chlamydial keratoconjunctivitis ' , Investigative Ophthalmology and Visual Science , vol. 41 , no. 7 , pp. 1818-1822 .

مصطلحات موضوعية: diagnosis: Adenovirus Infections, Human, genetics: Adenoviruses, diagnosis: Chlamydia Infections, genetics: Chlamydia trachomatis, virology: Conjunctiva, chemistry: DNA Primers, analysis: DNA, Viral, diagnosis: Eye Infections, diagnosis: Herpesviridae Infections, genetics: Herpesvirus 1, Humans, diagnosis: Keratoconjunctivitis, methods: Polymerase Chain Reaction, Prospective Studies, Research Support, Non-U.S. Gov't, Sensitivity and Specificity

الإتاحة: https://research.manchester.ac.uk/en/publications/617fb71d-782f-40f8-91f1-0dae20c0ca07Test

المؤلفون: Ray, David W., Davis, Julian R E, White, Anne, Clark, Adrian J L

المصدر: Ray , D W , Davis , J R E , White , A & Clark , A J L 1996 , ' Glucocorticoid receptor structure and function in glucocorticoid- resistant small cell lung carcinoma cells ' , Cancer Research , vol. 56 , no. 14 , pp. 3276-3280 .

مصطلحات موضوعية: Amino Acid Sequence, Animals, Base Sequence, metabolism: Carcinoma, Small Cell, Cercopithecus aethiops, chemistry: DNA Primers, pharmacology: Dexamethasone, Gene Expression Regulation, Neoplastic, pharmacology: Glucocorticoids, Humans, Molecular Sequence Data, Point Mutation, genetics: RNA, Messenger, Neoplasm, metabolism: Receptors, Glucocorticoid, Recombinant Proteins, drug effects: Signal Transduction, Structure-Activity Relationship, Tumor Cells, Cultured

الإتاحة: https://research.manchester.ac.uk/en/publications/4d4a87c7-b59a-44ce-9651-9c8ca1897e92Test

المؤلفون: Marina Mora, Graziella Uziel, Irina F. Sevrioukova, Orsetta Zuffardi, Federica Invernizzi, Pio D'Adamo, Daniele Ghezzi, Francesca Novara, Massimo Zeviani, Costanza Lamperti

المساهمون: D., Ghezzi, I., Sevrioukova, F., Invernizzi, C., Lamperti, M., Mora, D'Adamo, ADAMO PIO, F., Novara, O., Zuffardi, G., Uziel, M., Zeviani

المصدر: The American Journal of Human Genetics. (4):639-649

مصطلحات موضوعية: Mitochondrial encephalomyopathy, Male, DNA Primer, Riboflavin, Respiratory chain, Poly (ADP-Ribose) Polymerase-1, Apoptosis, Gene, drug effect [Skeletal], Apoptosis Inducing Factor, Apoptosis Inducing Factor: genetics, Apoptosis Inducing Factor: metabolism, Caspase 3, Caspase 3: metabolism, Computer Simulation, DNA, DNA Primers, DNA Primers: chemistry, Dietary Supplements, Electron Transport, Electron Transport: physiology, Female, Fibroblasts, Fibroblasts: cytology, Fibroblasts: drug effects, Fibroblasts: metabolism, Flavin-Adenine Dinucleotide, Flavin-Adenine Dinucleotide: metabolism, Genes, Humans, In Situ Nick-End Labeling, Infant, Magnetic Resonance Imaging, Mitochondrial, Mitochondrial Encephalomyopathies, Mitochondrial Encephalomyopathies: genetics, Mitochondrial Encephalomyopathies: metabolism, Mitochondrial Encephalomyopathies: pathology, Mitochondrial: genetics, Mitochondrial: metabolism, Monozygotic, Muscle, Mutation, Mutation: genetics, Nervous System Diseases, Nervous System Diseases: drug therapy, Nervous System Diseases: etiology, Newborn, Pedigree, Poly(ADP-ribose) Polymerases, Poly(ADP-ribose) Polymerases: metabolism, Protein Conformation, Riboflavin: administration \& dosage, Skeletal, Skeletal: cytology, Skeletal: drug effects, Skeletal: metabolism, Staurosporine, Staurosporine: pharmacology, Twins, X-Linked, Genes, X-Linked, Genetics(clinical), genetic [Mitochondrial], Poly(ADP-ribose) Polymerase, metabolism [Poly(ADP-ribose) Polymerases], chemistry [DNA Primers], Apoptosis-inducing factor, pathology [Mitochondrial Encephalomyopathies], metabolism [Fibroblasts], Human, DNA, Mitochondrial, genetic [Mutation], Genetics, metabolism [Caspase 3], Dietary Supplement, metabolism [Mitochondrial], Apoptosi, medicine.disease, metabolism [Skeletal], Monozygotic twin, drug effect [Fibroblasts], Mitochondrion, Mitochondrial Encephalomyopathie, Mitochondrial myopathy, cytology [Fibroblasts], Nervous System Disease, Genetics (clinical), cytology [Skeletal], metabolism [Mitochondrial Encephalomyopathies], physiology [Electron Transport], Biochemistry, metabolism [Flavin-Adenine Dinucleotide], Fibroblast, genetic [Mitochondrial Encephalomyopathies], AIFM1, Infant, Newborn, Muscle, Skeletal, Twins, Monozygotic, Biology, genetic [Apoptosis Inducing Factor], etiology [Nervous System Diseases], Severe X-linked mitochondrial encephalomyopathy, Report, pharmacology [Staurosporine], medicine, Twin, Molecular biology, metabolism [Apoptosis Inducing Factor], drug therapy [Nervous System Diseases], administration \& dosage [Riboflavin]

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ac9f47428b5dc54035e607c3897c64Test