المؤلفون: Daniela Guelho, MD, Daniela Stefania Trifu, MD, Treena Cranston, BSc, DipRCPath, Colin Forfar, MD, PhD, Niki Karavitaki, PhD, FRCP, Ashley B. Grossman, MD; FMedSci

المصدر: AACE Clinical Case Reports, Vol 1, Iss 4, Pp e273-e277 (2015)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2376060520303461Test; https://doaj.org/toc/2376-0605Test

الوصول الحر: https://doaj.org/article/6f04c9032e934757a97d57818de86ea5Test

المؤلفون: Omair A. Shariq, Kate E. Lines, Katherine A. English, Bahram Jafar-Mohammadi, Philippa Prentice, Ruth Casey, Benjamin G. Challis, Andreas Selberherr, Hannah Boon, Treena Cranston, Fiona J. Ryan, Radu Mihai, Ultan Healy, Tom Kurzawinski, Mehul T. Dattani, Irina Bancos, Benzon M. Dy, Melanie L. Lyden, William F. Young, Travis J. McKenzie, Duncan Richards, Rajesh V. Thakker

المصدر: Surgery. 171:1708-1711

مصطلحات موضوعية: Surgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::217e3e73b8125cfd3d77017db855f49fTest
https://doi.org/10.1016/j.surg.2022.03.013Test

المؤلفون: Sarah A. Howles, Caroline M. Gorvin, Treena Cranston, Angela Rogers, Anna K. Gluck, Hannah Boon, Kate Gibson, Mushtaqur Rahman, Allen Root, M. Andrew Nesbit, Fadil M. Hannan, Rajesh V. Thakker

المصدر: Journal of Bone and Mineral Research.

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Orthopedics and Sports Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444f91cca08d5c6360d7d44b41295f45Test
https://doi.org/10.1002/jbmr.4803Test

المؤلفون: Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher

المصدر: Journal of Medical Genetics. 60:107-111

مصطلحات موضوعية: Genetics, Genetics (clinical)

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe43c7664f05851ef05f0c53d8f3e20Test
https://doi.org/10.1136/jmedgenet-2021-108355Test

المؤلفون: Tristan Richardson, Flanagan Deh., Rajesh V. Thakker, Alistair T. Pagnamenta, Treena Cranston, Jenny C. Taylor, Mark Stevenson, Simona Grozinsky-Glasberg, Angela Rogers, Kate E Lines, Kreepa Kooblall, Hannah Boon, F Boardman-Pretty

المصدر: Journal of Bone and Mineral Research. 36:100-109

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, endocrine system diseases, Five prime untranslated region, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biology, 03 medical and health sciences, 0302 clinical medicine, Proto-Oncogene Proteins, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Coding region, Orthopedics and Sports Medicine, MEN1, Multiplex ligation-dependent probe amplification, Multiple endocrine neoplasia, Gene, Base Sequence, Promoter, Sequence Analysis, DNA, medicine.disease, Molecular biology, HEK293 Cells, 030104 developmental biology, 5' Untranslated Regions

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac4796983aac58cd398bfe146dc3ce4aTest
https://doi.org/10.1002/jbmr.4156Test

المؤلفون: Helen, Hanson, Miranda, Durkie, Fiona, Lalloo, Louise, Izatt, Terri P, McVeigh, Jackie A, Cook, Carole, Brewer, James, Drummond, Samantha, Butler, Treena, Cranston, Ruth, Casey, Tricia, Tan, Daniel, Morganstein, Diana M, Eccles, Marc, Tischkowitz, Clare, Turnbull, Emma Roisin, Woodward, Eamonn R, Maher, Lucy, Side

المصدر: Journal of medical genetics.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8a91482740d837bc2890ec60eb24b1d9Test
https://pubmed.ncbi.nlm.nih.gov/35260474Test

المؤلفون: Andrew J Wallace, Diana Eccles, Lucy Side, Diana Baralle, Gail Norbury, Marc Tischkowitz, Helen Hanson, Rachel Robinson, D. Gareth Evans, George J Burghel, Cankut Çubuk, Alice Garrett, Treena Cranston, Sabrina Talukdar, Sheila Palmer-Smith, Emma R. Woodward, Alison Callaway, Fiona Lalloo, James Drummond, Ian R. Berry, Sian Ellard, Louise Izatt, Miranda Durkie, Clare Turnbull, Mary Alikian

المساهمون: Garrett, Alice [0000-0001-8942-283X], Burghel, George J [0000-0001-9360-8194], Berry, Ian R [0000-0002-9710-4724], Eccles, Diana M [0000-0002-9935-3169], Evans, D Gareth [0000-0002-8482-5784], Turnbull, Clare [0000-0002-1734-5772], Apollo - University of Cambridge Repository

المصدر: Journal of Medical Genetics
Callaway, A, Durkie, M, Cubuk, C, Alikian, M, Burghel, GJ, Izatt, L, Talukdar, S, Side, L, Cranston, T, Palmer-Smith, S, Baralle, D & CanVIG-UK 2020, ' Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2019-106759Test

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Service (systems architecture), Subspecialty, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, Neoplasms, medicine, Cancer Genetics, Humans, genetics, guidelines, Genetic Testing, Genetics (clinical), business.industry, Interpretation (philosophy), Genetic Variation, High-Throughput Nucleotide Sequencing, Geneticist, Genomics, United Kingdom, Data sharing, 030104 developmental biology, 030220 oncology & carcinogenesis, Family medicine, molecular genetics, oncology, Medical genetics, Female, Personalized medicine, business, Psychology, Ireland, clinical genetics

وصف الملف: text; application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f4cfe78b9fcd7b2e502b1e11ebf00a9Test
http://europepmc.org/articles/PMC7691806Test

المؤلفون: Rajesh V. Thakker, Caroline M Gorvin, Theingi Aung, Tessa Homfray, Shailini Bahl, Anna K Gluck, Victoria Stokes, Treena Cranston, Brian Shine, Hannah Boon, Fadil M. Hannan, Kate E Lines

المصدر: The Journal of Clinical Endocrinology and Metabolism
The Journal of Clinical Endocrinology & Metabolism

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, NPS-2143, medicine.medical_specialty, Allosteric modulator, G-protein, Hypoparathyroidism, calcium-sensing receptor, G protein, Endocrinology, Diabetes and Metabolism, Protein subunit, Hypercalciuria, Clinical Biochemistry, 030209 endocrinology & metabolism, GTPase, Biochemistry, Germline, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, parathyroid hormone, Child, Clinical Research Article, Hypocalcemia, Chemistry, Biochemistry (medical), HEK 293 cells, Molecular biology, Pedigree, HEK293 Cells, 030104 developmental biology, Gain of Function Mutation, GTP-Binding Protein alpha Subunits, Gq-G11, Female, Calcium-sensing receptor, Receptors, Calcium-Sensing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d24bfc2cc870d81e216ad798ba93dc21Test
https://doi.org/10.1210/clinem/dgz251Test

المؤلفون: Benzon M. Dy, Ruth T Casey, Duncan Richards, Mehul T. Dattani, Irina Bancos, Radu Mihai, Tom R. Kurzawinski, Rajesh V. Thakker, William F. Young, Treena Cranston, Fiona Ryan, Philippa Prentice, Ultan Healy, Katherine A. English, Benjamin G. Challis, Andreas Selberherr, Melanie L. Lyden, Travis J. McKenzie, Hannah Boon, Omair A. Shariq, Kate E Lines, Bahram Jafar-Mohammadi

مصطلحات موضوعية: Male, Parathyroidectomy, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Neuroendocrine tumors, Duodenal Neoplasms, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Endocrine system, MEN1, Child, Multiple endocrine neoplasia, Retrospective Studies, business.industry, Pituitary tumors, Retrospective cohort study, Hyperparathyroidism, Primary, medicine.disease, Pancreatic Neoplasms, Parathyroid Neoplasms, Female, Surgery, business, Primary hyperparathyroidism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1da14857bbe670e8840951e50f84055Test
https://ora.ox.ac.uk/objects/uuid:7859466e-bd77-4011-84c1-2abee67e059dTest

المؤلفون: Rajesh V. Thakker, Xun Zhang, Treena Cranston, Kreepa Kooblall, Laura E. Dichtel, Mark Stevenson, Lisa B. Nachtigall, Hannah Boon, Kate E Lines

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: 0301 basic medicine, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Case Reports, 03 medical and health sciences, 0302 clinical medicine, Medicine, MEN1, primary hyperparathyroidism, Multiple endocrine neoplasia, Phenocopy, biology, Familial hypocalciuric hypercalcemia, business.industry, Chromogranin A, medicine.disease, Pancreatic Neuroendocrine Neoplasm, 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein, Cancer research, acromegaly, RNA-Scope, CDKN1B, pancreatic neuroendocrine neoplasm, business, AcademicSubjects/MED00250, Primary hyperparathyroidism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e5cb112491a586c87a813805d96f84Test
https://doi.org/10.1210/jendso/bvaa142Test