المؤلفون: Elmasri, Marwa

مصطلحات موضوعية: 573.8, QP0361 Nervous system, RB151 Theories of disease. Etiology. Pathogenesis, RC0360 Diseases of the central nervous system

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.804974

المؤلفون: Marchand, Michael C.

المساهمون: Phillips, Carol

مصطلحات موضوعية: 610, RB151 Theories of disease. Etiology. Pathogenesis, RG600 The embryo and fetus, RC620 Nutritional diseases. Deficiency diseases, RC685 Hypertension

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.576608

المؤلفون: Pentland, Ieisha, Campos-León, Karen, Cotic, Marius, Davies, Kelli-Jo, Wood, C David, Groves, Ian J, Burley, Megan, Coleman, Nicholas, Stockton, Joanne D, Noyvert, Boris, Beggs, Andrew, West, Michelle J, Roberts, Sally, Parish, Joanna L

مصطلحات موضوعية: QR0355 Virology, RB151 Theories of disease. Etiology. Pathogenesis, RC0268.4 Genetic aspects. Cancer genes

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/79822/3/journal.pbio.2005752.pdf; http://sro.sussex.ac.uk/id/eprint/79822/1/Pentland%20et%20al%202018.pdf; Pentland, Ieisha, Campos-León, Karen, Cotic, Marius, Davies, Kelli-Jo, Wood, C David, Groves, Ian J, Burley, Megan, Coleman, Nicholas, Stockton, Joanne D, Noyvert, Boris, Beggs, Andrew, West, Michelle J, Roberts, Sally and Parish, Joanna L (2018) Disruption of CTCF-YY1–dependent looping of the human papillomavirus genome activates differentiation-induced viral oncogene transcription. PLoS Biology, 16 (10). e2005752 1-28. ISSN 1544-9173

الاتاحة: http://sro.sussex.ac.uk/id/eprint/79822/
http://sro.sussex.ac.uk/id/eprint/79822/3/journal.pbio.2005752.pdf
http://sro.sussex.ac.uk/id/eprint/79822/1/Pentland%20et%20al%202018.pdf
https://doi.org/10.1371/journal.pbio.2005752

المؤلفون: Ramy Saad, William E. Arter, Eleni E Ladikou, Timothy Chevassut, Barbara J Philips, Kate M Milne, Alice C Eziefula, Helena Sivaloganathan, Simon M Stoneham, Roshan Ramasamy

المصدر: Clin Med (Lond)

مصطلحات موضوعية: Male, Disease, 030204 cardiovascular system & hematology, Severe Acute Respiratory Syndrome, Fibrinogen, Gastroenterology, law.invention, Cohort Studies, Hospitals, University, 0302 clinical medicine, law, Hospital Mortality, 030212 general & internal medicine, biology, Mortality rate, Venous Thromboembolism, General Medicine, Intensive care unit, Survival Rate, Intensive Care Units, Female, Coronavirus Infections, medicine.drug, Cohort study, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Pneumonia, Viral, Risk Assessment, Sampling Studies, Fibrin Fibrinogen Degradation Products, 03 medical and health sciences, Von Willebrand factor, Internal medicine, von Willebrand Factor, medicine, Humans, Letters to the Editor, Pandemics, Survival rate, RB151, business.industry, COVID-19, United Kingdom, biology.protein, Endothelium, Vascular, RB, business, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4a152821d98fa4dad002b5a9567459
https://doi.org/10.7861/clinmed.2020-0346

المؤلفون: Molla, Yordanos B, Wardrop, Nicola A, Le Blond, Jennifer S, Baxter, Peter, Newport, Melanie J, Atkinson, Peter M, Davey, Gail

مصطلحات موضوعية: QE0001 General Including geographical divisions, RB151 Theories of disease. Etiology. Pathogenesis

وصف الملف: application/msword; application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/48948/1/Accepted_MS_BMC_Health_Geo_June2014.doc; http://sro.sussex.ac.uk/id/eprint/48948/3/1476-072X-13-24.pdf; Molla, Yordanos B, Wardrop, Nicola A, Le Blond, Jennifer S, Baxter, Peter, Newport, Melanie J, Atkinson, Peter M and Davey, Gail (2014) Modelling environmental factors correlated with podoconiosis. International Journal of Health Geographics, 13 (24). ISSN 1476-072X

الاتاحة: http://sro.sussex.ac.uk/id/eprint/48948/
http://sro.sussex.ac.uk/id/eprint/48948/1/Accepted_MS_BMC_Health_Geo_June2014.doc
http://sro.sussex.ac.uk/id/eprint/48948/3/1476-072X-13-24.pdf
https://doi.org/10.1186/1476-072X-13-24

المؤلفون: Samaan, Zainab, Gaysina, Daria, Cohen-Woods, Sarah, Craddock, Nick, Jones, Lisa, Korszun, Ania, Owen, Mike, Mente, Andrew, McGuffin, Peter, Farmer, Anne

مصطلحات موضوعية: RB151 Theories of disease. Etiology. Pathogenesis, RC0346 Neurology. Diseases of the nervous system Including speech disorders, RC0438 Psychiatry, including Psychopathology

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/46507/1/Samaan,_2011.pdf; Samaan, Zainab, Gaysina, Daria, Cohen-Woods, Sarah, Craddock, Nick, Jones, Lisa, Korszun, Ania, Owen, Mike, Mente, Andrew, McGuffin, Peter and Farmer, Anne (2011) Methylenetetrahydrofolate reductase gene variant (MTHFR C677T) and migraine: a case control study and meta-analysis. BMC Neurology, 11 (1). p. 66. ISSN 1471-2377

الاتاحة: http://sro.sussex.ac.uk/id/eprint/46507/
http://sro.sussex.ac.uk/id/eprint/46507/1/Samaan,_2011.pdf
https://doi.org/10.1186/1471-2377-11-66

المؤلفون: Walmsley, Gemma L, Arechavala-Gomeza, Virginia, Fernandez-Fuente, Marta, Burke, Margaret M, Nagel, Nicole, Holder, Angela, Stanley, Rachael, Chandler, Kate, Marks, Stanley L, Muntoni, Francesco, Shelton, G Diane, Piercy, Richard J

مصطلحات موضوعية: R Medicine, RB151 Theories of disease. Etiology. Pathogenesis

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/45578/1/journal.pone.0008647.pdf; Walmsley, Gemma L, Arechavala-Gomeza, Virginia, Fernandez-Fuente, Marta, Burke, Margaret M, Nagel, Nicole, Holder, Angela, Stanley, Rachael, Chandler, Kate, Marks, Stanley L, Muntoni, Francesco, Shelton, G Diane and Piercy, Richard J (2010) A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping. PLoS ONE, 5 (1). e8647. ISSN 1932-6203

الاتاحة: http://sro.sussex.ac.uk/id/eprint/45578/
http://sro.sussex.ac.uk/id/eprint/45578/1/journal.pone.0008647.pdf
https://doi.org/10.1371/journal.pone.0008647

المؤلفون: Anna Lehman, Melinda Zombor, Mark O'Driscoll, Ute Moog, Natalia Gomez-Ospina, Valerio Conti, Adeline Jacquinet, Margot I. Van Allen, Sofia Ygberg, Andrew E. Timms, Renzo Guerrini, Jonathan A. Bernstein, Ghayda M. Mirzaa, Diana Alcantara, Fiona Stewart, Sarju G. Mehta, Oana Caluseriu, Sarah Collins, Ronit Mesterman, John M. Graham, Robert F. Hevner, Kaylee Park, William B. Dobyns, Enrico Alfei, László Sztriha, Gill Bejerano, Laura Baker, Anand Saggar, Chiara Pantaleoni, Aaron M. Wenger, Karen W. Gripp, Chi Cheng, Harendra Guturu

مصطلحات موضوعية: 0301 basic medicine, Male, Hemimegalencephaly, Pathology, medicine.medical_specialty, RB155.5, Developmental Disabilities, RB024, Biology, Phosphatidylinositols, Transfection, akt3, RB127, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Polymicrogyria, Humans, Immunoprecipitation, Megalencephaly, Kinase activity, Child, Genetic Association Studies, Genetics, RB151, Macrocephaly, Brain, RB057, Original Articles, Cortical dysplasia, medicine.disease, Phenotype, Magnetic Resonance Imaging, 3. Good health, 030104 developmental biology, Heterotopia (medicine), HEK293 Cells, Mutation, Mutagenesis, Site-Directed, Female, Neurology (clinical), medicine.symptom, Proto-Oncogene Proteins c-akt, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0402726b948517f1efa27f5987843845

المؤلفون: Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M

مصطلحات موضوعية: RB024 Pathological anatomy and histology, RB057 Post-mortem examination. Autopsies, RB127 Manifestations of disease, RB151 Theories of disease. Etiology. Pathogenesis, RB155.5 Genetic disorders. Human chromosome abnormalities

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/70355/5/AKT3_MS_Brain_Revised_Final%20Accepted%20version.pdf; Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark and Mirzaa, Ghayda M (2017) Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain, 140 (10). pp. 2610-2622. ISSN 0006-8950

الاتاحة: http://sro.sussex.ac.uk/id/eprint/70355/
http://sro.sussex.ac.uk/id/eprint/70355/5/AKT3_MS_Brain_Revised_Final%20Accepted%20version.pdf
https://doi.org/10.1093/brain/awx203

المؤلفون: Smith, Thomas, Ho, Gladys, Christodoulou, John, Price, Elizabeth Ann, Onadim, Zerrin, Gauthier-Villars, Marion, Dehainault, Catherine, Houdayer, Claude, Parfait, Beatrice, van Minkelen, Rick, Lohman, Dietmar, Eyre-Walker, Adam

مصطلحات موضوعية: QH0426 Genetics, RB151 Theories of disease. Etiology. Pathogenesis

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/60084/3/Cryptic%20disease%20-%20revision%20-%20all.pdf; Smith, Thomas, Ho, Gladys, Christodoulou, John, Price, Elizabeth Ann, Onadim, Zerrin, Gauthier-Villars, Marion, Dehainault, Catherine, Houdayer, Claude, Parfait, Beatrice, van Minkelen, Rick, Lohman, Dietmar and Eyre-Walker, Adam (2016) Extensive variation in the mutation rate between and within human genes associated with Mendelian disease. Human Mutation, 37 (5). pp. 488-494. ISSN 1059-7794

الاتاحة: http://sro.sussex.ac.uk/id/eprint/60084/
http://sro.sussex.ac.uk/id/eprint/60084/3/Cryptic%20disease%20-%20revision%20-%20all.pdf
https://doi.org/10.1002/humu.22967

المؤلفون: Tekola-Ayele, Fasil, Adeyemo, Adebowale, Assefa, Abraham, Hailu, Elena, Finan, Christopher, Davey, Gail, Rotimi, Charles, Newport, Melanie

مصطلحات موضوعية: RB151 Theories of disease. Etiology. Pathogenesis

وصف الملف: application/msword

Relation: http://sro.sussex.ac.uk/id/eprint/48931/1/Manuscript_Text_Dec3_2013.docx; Tekola-Ayele, Fasil, Adeyemo, Adebowale, Assefa, Abraham, Hailu, Elena, Finan, Christopher, Davey, Gail, Rotimi, Charles and Newport, Melanie (2015) Clinical and pharmacogenomic implications of genetic variation in an Ethiopian population. Pharmacogenomics Journal, 15 (1). pp. 101-108. ISSN 1470-269X

الاتاحة: http://sro.sussex.ac.uk/id/eprint/48931/
http://sro.sussex.ac.uk/id/eprint/48931/1/Manuscript_Text_Dec3_2013.docx
https://doi.org/10.1038/tpj.2014.39

المؤلفون: James, Tricia

مصطلحات موضوعية: RB151 Theories of disease. Etiology. Pathogenesis, RA565 Environmental health, RJ59 Infant and neonatal morbidity and mortality

Relation: James, T. (2007) Was shoemaking bad for babies? A vaccination register study of the impact of shoemaking on neonatal mortality in Northamptonshire 1880-1910. Paper presented to: British Society for Population Studies - 2007 Annual Conference, St Andrews University, Scotland, 11-13 September 2007. (Unpublished)

الاتاحة: http://nectar.northampton.ac.uk/658/

المؤلفون: Fitzgerald, Brendan, O'Driscoll, Mark, Chong, Karen, Keating, Sarah, Shannon, Patrick

مصطلحات موضوعية: RB127 Manifestations of disease, RB151 Theories of disease. Etiology. Pathogenesis

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/38514/1/Brain_%26_Dev_2011_Seckel_foetus.pdf; Fitzgerald, Brendan, O'Driscoll, Mark, Chong, Karen, Keating, Sarah and Shannon, Patrick (2012) Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanisms. Brain and Development, 34 (3). pp. 238-243. ISSN 0387-7604

الاتاحة: http://sro.sussex.ac.uk/id/eprint/38514/
http://sro.sussex.ac.uk/id/eprint/38514/1/Brain_%26_Dev_2011_Seckel_foetus.pdf
https://doi.org/10.1016/j.braindev.2011.05.007

المؤلفون: Tanaka, Akio, Weinel, Sarah, Nagy, Nikoletta, O'Driscoll, Mark, Lai-Cheong, Joey E, Kulp-Shorten, Carol L, Knable, Alfred, Carpenter, Gillian, Fisher, Sheila A, Hiragun, Makiko, Yanase, Yuhki, Hide, Michihiro, Callen, Jeffrey, McGrath, John A

مصطلحات موضوعية: RB127 Manifestations of disease, RB151 Theories of disease. Etiology. Pathogenesis

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/38510/1/ATR_TPC_AJHG_2012.pdf; Tanaka, Akio, Weinel, Sarah, Nagy, Nikoletta, O'Driscoll, Mark, Lai-Cheong, Joey E, Kulp-Shorten, Carol L, Knable, Alfred, Carpenter, Gillian, Fisher, Sheila A, Hiragun, Makiko, Yanase, Yuhki, Hide, Michihiro, Callen, Jeffrey and McGrath, John A (2012) Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome. American Journal of Human Genetics, 90 (3). pp. 511-517. ISSN 0002-9297

الاتاحة: http://sro.sussex.ac.uk/id/eprint/38510/
http://sro.sussex.ac.uk/id/eprint/38510/1/ATR_TPC_AJHG_2012.pdf
https://doi.org/10.1016/j.ajhg.2012.01.007

المؤلفون: Kerzendorfer, Claudia, Hannes, Femke, Colnaghi, Rita, Abramowicz, Iga, Carpenter, Gillian, Vermeesch, Joris Robert, O'Driscoll, Mark

مصطلحات موضوعية: RB127 Manifestations of disease, RB151 Theories of disease. Etiology. Pathogenesis

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/38513/1/WHS._Hum_Mol_Genet_2012.pdf; Kerzendorfer, Claudia, Hannes, Femke, Colnaghi, Rita, Abramowicz, Iga, Carpenter, Gillian, Vermeesch, Joris Robert and O'Driscoll, Mark (2012) Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. Human Molecular Genetics, 21 (10). pp. 2181-2193. ISSN 0964-6906

الاتاحة: http://sro.sussex.ac.uk/id/eprint/38513/
http://sro.sussex.ac.uk/id/eprint/38513/1/WHS._Hum_Mol_Genet_2012.pdf
https://doi.org/10.1093/hmg/dds033

المؤلفون: Serra, L, Cercignani, M, Basile, B, Spanò, B, Perri, R, Fadda, L, Marra, C, Giubilei, F, Caltagirone, C, Bozzali, M

مصطلحات موضوعية: QP0351 Neurophysiology and neuropsychology, RB151 Theories of disease. Etiology. Pathogenesis, RC0321 Neurosciences. Biological psychiatry. Neuropsychiatry, RC0346 Neurology. Diseases of the nervous system Including speech disorders

Relation: Serra, L, Cercignani, M, Basile, B, Spanò, B, Perri, R, Fadda, L, Marra, C, Giubilei, F, Caltagirone, C and Bozzali, M (2012) White matter damage along the uncinate fasciculus contributes to cognitive decline in AD and DLB. Current Alzheimer Research, 9 (3). pp. 326-333. ISSN 1875-5828

الاتاحة: http://sro.sussex.ac.uk/id/eprint/41609/
https://doi.org/10.2174/156720512800107555

المؤلفون: Schosser, A, Gaysina, D, Cohen-Woods, S, Domenici, E, Perry, J, Tozzi, F, Korszun, A, Gunasinghe, C, Gray, J, Jones, L, Binder, E B, Holsboer, F, Craddock, N, Owen, M J, Craig, I W, Farmer, A E, Muglia, P, McGuffin, P

مصطلحات موضوعية: QH0426 Genetics, RB151 Theories of disease. Etiology. Pathogenesis, RC0438 Psychiatry, including Psychopathology

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/46508/1/Schosser,_Druggable_Genes,_2011.pdf; Schosser, A, Gaysina, D, Cohen-Woods, S, Domenici, E, Perry, J, Tozzi, F, Korszun, A, Gunasinghe, C, Gray, J, Jones, L, Binder, E B, Holsboer, F, Craddock, N, Owen, M J, Craig, I W, Farmer, A E, Muglia, P and McGuffin, P (2011) A follow-up case-control association study of tractable (druggable) genes in recurrent major depression. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156 (6). pp. 640-650. ISSN 1552-4841

الاتاحة: http://sro.sussex.ac.uk/id/eprint/46508/
http://sro.sussex.ac.uk/id/eprint/46508/1/Schosser,_Druggable_Genes,_2011.pdf
https://doi.org/10.1002/ajmg.b.31204

المؤلفون: Addisu, S, El-Metwally, T H, Davey, G, Worku, Y, Titheradge, M A

مصطلحات موضوعية: RB151 Theories of disease. Etiology. Pathogenesis, RL Dermatology

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/48193/1/Addisu_TGF_oxidative_stress.pdf; Addisu, S, El-Metwally, T H, Davey, G, Worku, Y and Titheradge, M A (2010) The role of transforming growth factor-beta1 and oxidative stress in podoconiosis pathogenesis. British Journal of Dermatology, 162 (5). pp. 998-1003. ISSN 1365-2133

الاتاحة: http://sro.sussex.ac.uk/id/eprint/48193/
http://sro.sussex.ac.uk/id/eprint/48193/1/Addisu_TGF_oxidative_stress.pdf
https://doi.org/10.1111/j.1365-2133.2010.09652.x

المؤلفون: Gaysina, Darya, Cohen-Woods, Sarah, Chow, Philip C, Martucci, Livia, Schosser, Alexandra, Ball, Harriet A, Tozzi, Federica, Perry, Julia, Muglia, Pierandrea, Kennedy, James L, King, Nicole, Vincent, John B, Parikh, Sagar V, Strauss, John, Craig, Ian W, McGuffin, Peter, Farmer, Anne

مصطلحات موضوعية: QH0426 Genetics, RB151 Theories of disease. Etiology. Pathogenesis, RC0438 Psychiatry, including Psychopathology

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/46774/1/Gaysina_BipDis_2010.pdf; Gaysina, Darya, Cohen-Woods, Sarah, Chow, Philip C, Martucci, Livia, Schosser, Alexandra, Ball, Harriet A, Tozzi, Federica, Perry, Julia, Muglia, Pierandrea, Kennedy, James L, King, Nicole, Vincent, John B, Parikh, Sagar V, Strauss, John, Craig, Ian W, McGuffin, Peter and Farmer, Anne (2010) Association analysis of DAOA and DAO in bipolar disorder: results from two independent case-control studies. Bipolar Disorders, 12 (5). pp. 579-581. ISSN 1398-5647

الاتاحة: http://sro.sussex.ac.uk/id/eprint/46774/
http://sro.sussex.ac.uk/id/eprint/46774/1/Gaysina_BipDis_2010.pdf
https://doi.org/10.1111/j.1399-5618.2010.00837.x

المؤلفون: Cohen-Woods, Sarah, Craig, Ian, Gaysina, Darya

مصطلحات موضوعية: QH0426 Genetics, RB151 Theories of disease. Etiology. Pathogenesis, RC0438 Psychiatry, including Psychopathology

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/46775/1/Cohen-Woods,_AJMG_2010.pdf; Cohen-Woods, Sarah, Craig, Ian, Gaysina, Darya and et al, (2010) The Bipolar Association case-control study (BACCS) and meta-analysis: no association with the 5,10-Methylenetetrahydrofolate reductase gene and bipolar disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B (7). pp. 1298-1304. ISSN 1552-4841

الاتاحة: http://sro.sussex.ac.uk/id/eprint/46775/
http://sro.sussex.ac.uk/id/eprint/46775/1/Cohen-Woods,_AJMG_2010.pdf
https://doi.org/10.1002/ajmg.b.31101