المؤلفون: Ceri E. Oldreive, Anna Skowronska, Nicholas J. Davies, Helen Parry, Angelo Agathanggelou, Sergey Krysov, Graham Packham, Zbigniew Rudzki, Laura Cronin, Katerina Vrzalikova, Paul Murray, Elena Odintsova, Guy Pratt, A. Malcolm R. Taylor, Paul Moss, Tatjana Stankovic

المصدر: Disease Models & Mechanisms, Vol 8, Iss 11, Pp 1401-1412 (2015)

مصطلحات موضوعية: CLL, Mouse model, T-cell depletion, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/8/11/1401; https://doaj.org/toc/1754-8411; https://doaj.org/toc/1754-8403

URL الوصول: https://doaj.org/article/375d1d3350404f2199c867a0890e9f1f

المؤلفون: Angelo Agathanggelou, Victoria J. Weston, Tracey Perry, Nicholas J. Davies, Anna Skowronska, Daniel T. Payne, John S. Fossey, Ceri E. Oldreive, Wenbin Wei, Guy Pratt, Helen Parry, David Oscier, Steve J. Coles, Paul S. Hole, Richard L. Darley, Michael McMahon, John D. Hayes, Paul Moss, Grant S. Stewart, A. Malcolm R. Taylor, Tatjana Stankovic

المصدر: Haematologica, Vol 100, Iss 8 (2015)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/7465; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/043481b5ed054be7b760c0b02db05858

المؤلفون: Geraldine Blanchard-Rohner, Anna Peirolo, Ludivine Coulon, Christian Korff, Judit Horvath, Pierre R. Burkhard, Fabienne Gumy-Pause, Emmanuelle Ranza, Peter Jandus, Harpreet Dibra, Alexander Malcolm R. Taylor, Joel Fluss

المصدر: Frontiers in Immunology, Vol 13 (2022)
Frontiers in immunology, Vol. 13 (2022) P. 791522

مصطلحات موضوعية: Adult, Male, Delayed Diagnosis, Adolescent, Genotype, Immunology, Ataxia Telangiectasia Mutated Proteins, Diagnosis, Differential, Ataxia Telangiectasia, Young Adult, Immunodeficiency, Humans, Immunology and Allergy, Genetic Testing, Child, Cerebellar ataxia, Movement disorder, Retrospective Studies, ddc:616, ddc:618, Movement Disorders, Neurodegenerative Diseases, RC581-607, ddc:616.8, ATM kinase activity, Cross-Sectional Studies, Phenotype, Child, Preschool, Mutation, Ataxia telangiectasia, Female, movement disorder, cerebellar ataxia, Immunologic diseases. Allergy, immunodeficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66fc791e159af29b288b7f88da767a57
https://doi.org/10.3389/fimmu.2022.791522

المؤلفون: Philip J Byrd, Grant S Stewart, Anna Smith, Charlotte Eaton, Alexander J Taylor, Chloe Guy, Ieva Eringyte, Peggy Fooks, James I Last, Robert Horsley, Antony W Oliver, Dragana Janic, Lidija Dokmanovic, Tatjana Stankovic, A Malcolm R Taylor

المصدر: PLoS Genetics, Vol 12, Iss 3, p e1005945 (2016)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4798644?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/4ca4cfd430634bbbb739e182954dea88

المؤلفون: Malcolm R. Taylor, Philip J. Byrd, Michael D. Perry, Martin J. Evans

المصدر: J Pediatr Genet

مصطلحات موضوعية: Genetics, Biallelic Mutation, Ataxia, genetic structures, Biology, medicine.disease, Genomic Stability, Likely benign, Pediatrics, Perinatology and Child Health, medicine, Sensorimotor neuropathy, medicine.symptom, Oculomotor apraxia, Gene, Genetics (clinical), Sequence (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c39466ef99a65aa87f2088d9390ad020
https://europepmc.org/articles/PMC8608479/

المؤلفون: Likun Du, Deborah K Dunn-Walters, Krystyna H Chrzanowska, Tanja Stankovic, Ashwin Kotnis, Xin Li, Jiayi Lu, Gösta Eggertsen, Claire Brittain, Sergey W Popov, Andrew R Gennery, A Malcolm R Taylor, Qiang Pan-Hammarström

المصدر: PLoS ONE, Vol 3, Iss 6, p e2482 (2008)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2423615?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/480d30444931401ab34fb24d9c7c0512

المؤلفون: A. Malcolm R. Taylor, Nathan A. Ellis, Grant S. Stewart, Corry M.R. Weemaes, Cynthia Rothblum-Oviatt, Agata Smogorzewska, Stefan Meyer, Barbara Pietrucha, Ian D. Hickson, Thomas O. Crawford

المصدر: Taylor, A M R, Rothblum-oviatt, C, Ellis, N A, Hickson, I D, Meyer, S, Crawford, T O, Smogorzewska, A, Pietrucha, B, Weemaes, C & Stewart, G S 2019, ' Chromosome instability syndromes ', Nature Reviews. Disease Primers, vol. 5, no. 1 . https://doi.org/10.1038/s41572-019-0113-0
Nature Reviews. Disease Primers, 5
Oxford Medicine
Taylor, A M R, Rothblum-Oviatt, C, Ellis, N A, Hickson, I D, Meyer, S, Crawford, T O, Smogorzewska, A, Pietrucha, B, Weemaes, C & Stewart, G S 2019, ' Chromosome instability syndromes ', Nature Reviews. Disease Primers, vol. 5, 64 . https://doi.org/10.1038/s41572-019-0113-0

مصطلحات موضوعية: business.industry, DNA repair, DNA damage, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], General Medicine, Gene mutation, medicine.disease, Bioinformatics, DNA Repair-Deficiency Disorders, Transplantation, Ataxia Telangiectasia, All institutes and research themes of the Radboud University Medical Center, Fanconi Anemia, Chromosome instability, Ataxia-telangiectasia, Medicine, Humans, Bloom syndrome, business, Nijmegen Breakage Syndrome, Nijmegen breakage syndrome, Bloom Syndrome, DNA Damage

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6123eced97a3495fbe1f370aab8ab210
https://pubmed.ncbi.nlm.nih.gov/31537806

المؤلفون: Shankara Paneesha, Francesco Forconi, Helen Parry, Surita Dalal, Jingwen Mao, Peter Hillmen, Nicholas J. Davies, Duncan M. Baird, Paul Evans, Angelo Agathanggelou, Talha Munir, Tatjana Stankovic, A. Malcolm R. Taylor, Anshita Goel, Rhiannon E. Jones, Andrew D Beggs, Jean-Baptiste Cazier, Marwan Kwok, Archana Sharma-Oates, Naheema S. Gordon, Paul Moreton, Grigorios Papatzikas, Samantha Drennan, Andy C. Rawstron, Robert Hollows, Paul Moss, Edward Smith, Guy Pratt, Mayumi Hamada, Ceri E. Oldreive

المصدر: Blood. 135(6)

مصطلحات موضوعية: Adult, Male, Receptors, CXCR4, Chronic lymphocytic leukemia, Immunology, Biology, Biochemistry, Somatic evolution in cancer, Polymorphism, Single Nucleotide, Transcriptome, immune system diseases, hemic and lymphatic diseases, medicine, Tumor Microenvironment, Humans, Aged, Cell Proliferation, Aged, 80 and over, Tumor microenvironment, Gene Expression Regulation, Leukemic, breakpoint cluster region, Cell Biology, Hematology, Middle Aged, medicine.disease, Phenotype, Leukemia, Lymphocytic, Chronic, B-Cell, Leukemia, Ki-67 Antigen, Immunoglobulin M, Mutation, Cancer research, Female, IGHV@, Immunoglobulin Heavy Chains

وصف الملف: application/pdf; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875e6cb6ec36ea12535f6d3a27e0ee11
https://pubmed.ncbi.nlm.nih.gov/31794600

المؤلفون: William P Whitehouse, Mohnish Suri, Thomas J. Jackson, Philip J. Byrd, Malcolm R. Taylor, Gabriel Chow

المصدر: Developmental Medicine & Child Neurology. 58:690-697

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Genotype, Statistics as Topic, Neurological examination, Protein Serine-Threonine Kinases, Statistics, Nonparametric, Protein expression, Ataxia Telangiectasia, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, medicine, Humans, Longitudinal Studies, Kinase activity, Child, Genetic Association Studies, Retrospective Studies, Neurologic Examination, medicine.diagnostic_test, business.industry, Disease progression, Age Factors, Retrospective cohort study, medicine.disease, United Kingdom, Phenotype, 030104 developmental biology, Mutation, Pediatrics, Perinatology and Child Health, Ataxia-telangiectasia, Assessment methods, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6348472ace7eb0be176defec3f727ea
https://doi.org/10.1111/dmcn.13052

المؤلفون: Hessa S. Alsaif, Natalie J. Prescott, Dimitrios K. Papadopoulos, Martin R. Higgs, Sarah R. Wessel, Alex von Kriegsheim, David Cortez, Saleem Ahmed, Clare V. Logan, Andrea Leitch, Paula Carroll, B D Henderson, Olga Murina, Jumana Y. Al-Aama, Rachel M A Mottram, Janine Altmüller, Maha Alnemer, Peter Nürnberg, Audrey Vernet, Anastasia Zlatanou, Eissa Faqeih, John J. Reynolds, Louise S. Bicknell, Jennie E. Murray, Angela L. Duker, Ariella Amar, Sateesh Maddirevula, Alexander Brean, Luigina Spaccini, Mohammed Zain Seidahmed, Helen Cox, Mohammed Al Balwi, Carol Wise, Angela Peron, Kassiani Skouloudaki, Rachel C. Challis, Emma Hobson, Fowzan S. Alkuraya, Michael B. Bober, Abdulrahman Alswaid, Grant S. Stewart, Michael A. Simpson, E. Ferda Percin, Angela F. Brady, Hannah Bye, Raoul Heller, Gökhan Yigit, Žygimantė Tarnauskaitė, Grace Yoon, Christopher G. Mathew, Pavel Tomancak, Martin A M Reijns, Agaadir Almoisheer, Ranad Shaheen, Saeed Al Tala, Andrew P. Jackson, Alan J. Quigley, Yun Li, A. Malcolm R. Taylor, Rita Fischetto, Luciana Chessa, Seema Thakur

المصدر: Reynolds, J, Bicknell, L S, Carroll, P, Higgs, M R, Shaheen, R, Murray, J E, Papadopoulos, D K, Leitch, A, Murina, O, Tarnauskaite, Z, Wessel, S R, Zlatanou, A, Vernet, A, von Kriegsheim, A, Mottram, R M A, Logan, C V, Bye, H, Li, Y, Brean, A, Maddirevula, S, Challis, R C, Skouloudaki, K, Almoisheer, A, Alsaif, H S, Amar, A, Prescott, N J, Bober, M, Duker, A, Faqeih, E, Seidahmed, M Z, Tala, S A, Alswaid, A, Ahmed, S, Al-Aama, J Y, Altmuller, J, Al Balwi, M, Brady, A F, Chessa, L, Cox, H, Fischetto, R, Heller, R, Henderson, B D, Hobson, E, Nurnberg, P, Percin, E F, Peron, A, Spaccini, L, Quigley, A J, Thakur, S, Wise, C A, Yoon, G, Alnemer, M, Yigit, G, Taylor, A M R, Reijns, M A M, Simpson, M A, Cortez, D, Alkuraya, F S, Mathew, C G, Jackson, A P & Stewart, G S 2017, ' Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism ', Nature Genetics, vol. 49, no. 4, pp. 537–549 . https://doi.org/10.1038/ng.3790

مصطلحات موضوعية: 0301 basic medicine, Genome instability, DNA Replication, Male, DNA damage, Dwarfism, Biology, DNA-binding protein, Article, Genomic Instability, Cell Line, 03 medical and health sciences, Chromosome instability, Gene duplication, Genetics, medicine, Humans, DNA replication, medicine.disease, DNA-Binding Proteins, 030104 developmental biology, Mutation, Microcephaly, Replisome, Female, DNA Damage

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46628f8b75da700e872119db9b156d27
https://europepmc.org/articles/PMC5450907/