المؤلفون: Pirkle Jc, Donald S. Gann, Byrnes Gj, Carlson De, Allen-Rowlands Cf

المصدر: The Journal of Trauma: Injury, Infection, and Critical Care. 21:598-603

مصطلحات موضوعية: Male, Pentobarbital, Blood Volume, Intracellular Fluid, business.industry, medicine.medical_treatment, Osmolar Concentration, Splenectomy, Hemorrhage, Blood volume, Blood Proteins, Critical Care and Intensive Care Medicine, Restitution, Dogs, Anesthesia, Extracellular, medicine, Animals, Female, Surgery, business, Homeostasis, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c1a0cd51c2ab06f8f74bc05c8f5de7
https://doi.org/10.1097/00005373-198108000-00002

المؤلفون: Hamilton Mg, Allen-Rowlands Cf, Castracane Vd, Joseph Seifter

المصدر: Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.). 166(4)

مصطلحات موضوعية: Male, medicine.medical_specialty, Polybrominated Biphenyls, Thyroid Gland, chemistry.chemical_element, Thyrotropin, Body weight, Iodine, Thyroglobulin, General Biochemistry, Genetics and Molecular Biology, Pituitary thyroid axis, chemistry.chemical_compound, Internal medicine, Male rats, medicine, Animals, Thyroid, Biphenyl Compounds, Body Weight, Organ Size, Monoiodotyrosine, Rats, Thyroxine, Endocrinology, medicine.anatomical_structure, chemistry, Liver, Pituitary Gland, Propylthiouracil, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7675e019a701b682175bb295c68fe979
https://pubmed.ncbi.nlm.nih.gov/6261263

المؤلفون: Castracane Vd, Joseph Seifter, Hamilton Mg, Allen-Rowlands Cf

المصدر: Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.). 169(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Polybrominated biphenyl, Dose, Polybrominated Biphenyls, Liver weight, General Biochemistry, Genetics and Molecular Biology, Internal medicine, Male rats, Adrenal Glands, Testis, medicine, Endocrine system, Animals, Testosterone, business.industry, Thyroid, Biphenyl Compounds, Rats, Inbred Strains, Organ Size, Prolactin, Rats, Endocrinology, medicine.anatomical_structure, Liver, Pituitary Gland, Thyroid function, business, Corticosterone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d5c6f5e849008a80483197e3991f4d5
https://pubmed.ncbi.nlm.nih.gov/6278511

المؤلفون: Donald S. Gann, J. Carl Pirkle, Allen-Rowlands Cf

المصدر: Endocrinology. 110(1)

مصطلحات موضوعية: Basal rate, medicine.medical_specialty, Hydrocortisone, Blood volume, Blood Pressure, Hemorrhage, Endocrinology, Dogs, Internal medicine, Medicine, Animals, Blood Volume, business.industry, Fetal Restitution, Adrenalectomy, Blood Proteins, Blood proteins, Plasma osmolality, Blood pressure, Renal physiology, Pituitary Gland, Splenectomy, business, hormones, hormone substitutes, and hormone antagonists, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::806aa220e1200ba15c65f4512d736b3d
https://pubmed.ncbi.nlm.nih.gov/7053996

المؤلفون: Perez-Becerril C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, UK., Burghel GJ; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, UK., Hartley C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Rowlands CF; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Evans DG; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, UK., Smith MJ; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK miriam.smith@manchester.ac.uk.; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, UK.

المصدر: Journal of medical genetics [J Med Genet] 2024 Apr 19; Vol. 61 (5), pp. 452-458. Date of Electronic Publication: 2024 Apr 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatoses*/diagnosis , Neurofibromatoses*/genetics , Neurilemmoma*/diagnosis , Neurilemmoma*/genetics , Skin Neoplasms*/diagnosis , Skin Neoplasms*/genetics, Humans ; RNA ; High-Throughput Nucleotide Sequencing/methods

SCR Disease Name: Schwannomatosis

المؤلفون: Sadler KV; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Bowes J; Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester M13 9PL, UK., Rowlands CF; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, London SM2 5NG, UK., Perez-Becerril C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., van der Meer CM; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., King AT; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Rutherford SA; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Pathmanaban ON; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Hammerbeck-Ward C; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Lloyd SKW; Department of Otolaryngology, Manchester Royal Infirmary, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester M13 9WL, UK.; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Freeman SR; Department of Otolaryngology, Manchester Royal Infirmary, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester M13 9WL, UK., Williams R; Brain Tumour Biobank, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M6 8HD, UK., Hannan CJ; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK.; Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Lewis D; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Eyre S; Division of Musculoskeletal and Dermatological Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Evans DG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Smith MJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.

المصدر: Brain : a journal of neurology [Brain] 2023 Jul 03; Vol. 146 (7), pp. 2861-2868.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Neuroma, Acoustic*/genetics , Neurilemmoma*/genetics , Neurilemmoma*/pathology , Neurofibromatoses*/genetics , Skin Neoplasms*/genetics , Neurofibromatosis 2*/genetics, Humans ; Genome-Wide Association Study ; Transcription Factors/genetics

المؤلفون: Huntley C; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; National Cancer Registration and Analysis Service, National Health Service (NHS) England, London, UK., Torr B; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Sud A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; Haemato-oncology Unit, The Royal Marsden Hospital NHS Foundation Trust, Sutton, UK., Rowlands CF; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Way R; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Snape K; St Georges University of London, London, UK; South West Thames Regional Genetics Service, St George's Hospital, London, UK., Hanson H; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; South West Thames Regional Genetics Service, St George's Hospital, London, UK., Swanton C; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK; Cancer Evolution and Genome Instability Laboratory, University College London Cancer Institute, London, UK., Broggio J; National Cancer Registration and Analysis Service, National Health Service (NHS) England, London, UK., Lucassen A; Wellcome Centre for Human Genetics and Centre for Personalised Medicine, University of Oxford, Oxford, UK., McCartney M; Population and Behavioural Science Division, School of Medicine, University of St Andrews, St Andrews, UK., Houlston RS; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, UK., Hingorani AD; University College London British Heart Foundation Research Accelerator Centre, London, UK; Health Data Research UK, London, UK; National Institute of Health Research Biomedical Research Centre and Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK., Jones ME; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; National Cancer Registration and Analysis Service, National Health Service (NHS) England, London, UK; Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, UK. Electronic address: clare.turnbull@icr.ac.uk.

المصدر: The Lancet. Oncology [Lancet Oncol] 2023 Jun; Vol. 24 (6), pp. 658-668. Date of Electronic Publication: 2023 May 10.

نوع المنشور: Review; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 100957246 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-5488 (Electronic) Linking ISSN: 14702045 NLM ISO Abbreviation: Lancet Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Testicular Neoplasms* , Breast Neoplasms*/diagnosis , Breast Neoplasms*/epidemiology , Breast Neoplasms*/genetics , Prostatic Neoplasms*/diagnosis , Prostatic Neoplasms*/epidemiology , Prostatic Neoplasms*/genetics , Colorectal Neoplasms*/diagnosis , Colorectal Neoplasms*/epidemiology , Colorectal Neoplasms*/genetics, Male ; Humans ; Early Detection of Cancer ; Risk Factors ; United Kingdom/epidemiology ; Genetic Predisposition to Disease

SCR Disease Name: Testicular Germ Cell Tumor

المؤلفون: Withers SE; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Rowlands CF; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University National Health Service (NHS) Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Tapia VS; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Hedley F; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Mosneag IE; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Crilly S; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Rice GI; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University National Health Service (NHS) Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Badrock AP; Medical Research Council (MRC) Human Genetics Unit, University of Edinburgh, Edinburgh, United Kingdom., Hayes A; Genomic Technologies Core Facility, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom., Allan SM; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom., Briggs TA; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University National Health Service (NHS) Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom., Kasher PR; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.

المصدر: Frontiers in immunology [Front Immunol] 2023 Mar 06; Vol. 14, pp. 1100967. Date of Electronic Publication: 2023 Mar 06 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Diseases of the Nervous System*/genetics , Autoimmune Diseases of the Nervous System*/metabolism , Interferon Type I*/genetics , Interferon Type I*/metabolism , Nervous System Malformations*/genetics , Nervous System Malformations*/metabolism, Animals ; Mice ; SAM Domain and HD Domain-Containing Protein 1/genetics ; Zebrafish/genetics ; Zebrafish/metabolism

SCR Disease Name: Aicardi-Goutieres syndrome

المؤلفون: Sadler KV; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Rowlands CF; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Smith PT; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Hartley CL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Bowers NL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Roberts NY; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Harris JL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Wallace AJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Evans DG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Smith MJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

المصدر: Human mutation [Hum Mutat] 2022 May; Vol. 43 (5), pp. 643-654. Date of Electronic Publication: 2022 Apr 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Neurofibromatosis 2* , Neurofibromin 2*/genetics, Genetic Association Studies ; Genomics ; Humans ; Mutation, Missense

المؤلفون: Rowlands CF; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Taylor A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Rice G; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Whiffin N; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Hall HN; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Newman WG; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Black GCM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., O'Keefe RT; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Hubbard S; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Douglas AGL; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK., Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK., Briggs TA; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Ellingford JM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK. Electronic address: jamie.ellingford@manchester.ac.uk.

مؤلفون مشاركون: kConFab Investigators; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia; kConFab, Research Department, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia.

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 210-222. Date of Electronic Publication: 2022 Jan 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: RNA Splicing* , Software*, Genetic Diseases, Inborn/*genetics , RNA, Messenger/*genetics , Sequence Analysis, RNA/*statistics & numerical data, B-Lymphocytes/metabolism ; B-Lymphocytes/pathology ; Blood Cells/metabolism ; Blood Cells/pathology ; Cell Line ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Genetic Diseases, Inborn/classification ; Genetic Diseases, Inborn/metabolism ; Genetic Diseases, Inborn/pathology ; Genetic Variation ; Humans ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; RNA, Messenger/metabolism ; Research Design ; Exome Sequencing/statistics & numerical data