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131دورية أكاديمية
المؤلفون: Louise E. Docherty, Faisal I. Rezwan, Rebecca L. Poole, Claire L. S. Turner, Emma Kivuva, Eamonn R. Maher, Sarah F. Smithson, Julian P. Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaros
المصدر: Nature, Nature Communications. 6(1):1-7
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المؤلفون: Esther Kinning, Jonathan Berg, Michael A. Simpson, Marco Sciacovelli, Eamonn R. Maher, Emma R. Woodward, Patrick J. Morrison, Diana Walsh, Christian Frezza, Richard C. Trembath, Gail Kirby, Graeme R Clark, Edoardo Gaude
المصدر: The Journal of Clinical Endocrinology & Metabolism. 99:E2046-E2050
مصطلحات موضوعية: Male, Adolescent, SDHB, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Adrenal Gland Neoplasms, Mutation, Missense, SDHA, Pheochromocytoma, Biology, medicine.disease_cause, Biochemistry, Germline, Fumarate Hydratase, Paraganglioma, Young Adult, Endocrinology, Germline mutation, medicine, Humans, Missense mutation, Age of Onset, Child, Germ-Line Mutation, Aged, Genetics, Mutation, Biochemistry (medical), Infant, Newborn, Infant, Middle Aged, medicine.disease, Child, Preschool, Cancer research, Female, SDHD
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34936db6cc4416a0c25f13418c40a28e
https://doi.org/10.1210/jc.2014-1659 -
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المؤلفون: James Whitworth, D. Gareth Evans, Jon Hoffman, C Chapman, Eamonn R. Maher, Kai Ren Ong, Fiona Lalloo
المصدر: European Journal of Human Genetics. 23:581-587
مصطلحات موضوعية: Male, Referral, DNA Mismatch Repair, Genetic analysis, Article, Germline, Neoplasms, Multiple Primary, Germline mutation, Genetics, medicine, Humans, PTEN, Genetic Predisposition to Disease, Genetic Testing, Referral and Consultation, Germ-Line Mutation, Genetics (clinical), Genetic testing, medicine.diagnostic_test, biology, PTEN Phosphohydrolase, Cancer, Exons, Sequence Analysis, DNA, medicine.disease, Primary cancer, biology.protein, Female, Tumor Suppressor Protein p53
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المؤلفون: Yaman Saglam, Michaela Kendall, Timothy Barrett, Murat Doğan, Kristien Boelaert, Hakan Cangul, Eamonn R. Maher
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: endocrine system, Candidate gene, Heredity, TPO gene, Genetic Linkage, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Locus (genetics), Autoantigens, Iodide Peroxidase, Severity of Illness Index, symbols.namesake, Endocrinology, Risk Factors, Genetic linkage, Iron-Binding Proteins, Genotype, Congenital Hypothyroidism, Humans, Medicine, genetics, Genetic Predisposition to Disease, molecular, Child, Gene, Genetic Association Studies, Genetics, Sanger sequencing, business.industry, Siblings, Homozygote, Haplotype, thyroid dyshormonogenesis, Pedigree, Phenotype, Haplotypes, Mutation, Pediatrics, Perinatology and Child Health, symbols, Microsatellite, Original Article, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d942bbb87fa379045c8b0f6a35f08be
https://doi.org/10.4274/jcrpe.1404 -
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المؤلفون: Sharon E. Plon, Saskia M. Maas, Kris Ann P. Schultz, Gail E. Tomlinson, Lisa J. States, Eamonn R. Maher, Lee J. Helman, Surya P. Rednam, Kim E. Nichols, Jennifer M. Kalish, Kristin Zelley, Christopher C. Porter, Leslie Doros, Roland P. Kuiper, Raoul C.M. Hennekam, Todd E. Druley
المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, APH - Quality of Care, ANS - Cellular & Molecular Mechanisms, Paediatric Genetics, Human Genetics
المصدر: Clinical cancer research, 23(13), E115-E122. American Association for Cancer Research Inc.
Clinical Cancer Research, 23, 13, pp. e115-e122
Clinical Cancer Research, 23, e115-e122مصطلحات موضوعية: 0301 basic medicine, Hepatoblastoma, Male, Cancer Research, Pediatrics, medicine.medical_specialty, MEDLINE, Medical Oncology, Wilms Tumor, Article, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], medicine, Pediatric oncology, Humans, Genetic Predisposition to Disease, Renal ultrasounds, Early Detection of Cancer, Cancer predisposition, business.industry, Cancer, Infant, Wilms' tumor, medicine.disease, United States, Europe, 030104 developmental biology, Increased risk, Oncology, 030220 oncology & carcinogenesis, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bab5c73cd8adecdbc7988d3ace45448
https://www.repository.cam.ac.uk/handle/1810/266128 -
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المؤلفون: Jill Clayton-Smith, Unzela Khan, Daniel Walker, D. Gareth Evans, J A Innes, Emma R. Woodward, Eamonn R. Maher, Georgina Hall, Lisa Reali, George J Burghel, Fiona Lalloo, Kim French, Dominic J. McMullan, Derek Lim
المساهمون: Evans, D Gareth R [0000-0002-8482-5784], Apollo - University of Cambridge Repository
المصدر: Journal of medical genetics. 55(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Microarray, Cancer-Predisposing Gene, DNA Copy Number Variations, Pilot Projects, Biology, Bioinformatics, Proto-Oncogene Mas, Cohort Studies, 03 medical and health sciences, Neoplasms, Tuberous Sclerosis Complex 2 Protein, medicine, copy-number, Humans, genetics, Genetic Predisposition to Disease, Folliculin, Index case, Genetics (clinical), Bone Morphogenetic Protein Receptors, Type I, Incidental Findings, Cancer, Infant, Membrane Proteins, genetic screening/counselling, Oncogenes, medicine.disease, Microarray Analysis, 030104 developmental biology, CpG site, Child, Preschool, Cohort, Female, Chromosome Deletion, microarray, Cohort study
وصف الملف: application/pdf
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المؤلفون: Helen Simpson, Madhu Bassetti, Ferdia Gallagher, Krishna Chatterjee, Ruth Casey, Eamonn R. Maher, Alison Marker, Olivier Giger, Kieran Allinson, Mary A. McLean, Ben Challis, Ramesh Bulusu, Mark Gurnell
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: Metabolomics, Biochemistry, In vivo, business.industry, Medicine, Disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b782fe590701bc1a5075d1016e2c6eb7
https://doi.org/10.1530/endoabs.49.gp27 -
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المؤلفون: Soo-Mi Park, Katrina A. Andrews, Rosina Savisaar, Graeme R. Clark, Ruth T Casey, Helen Simpson, Eamonn R. Maher, Laurence D. Hurst, Louise Izatt, James Whitworth, Phillipe Taniere, Benjamen G Challis, Hannah West, David B. Ascher, Douglas E. V. Pires, Emma R. Woodward, Thomas G. Papathomas, Venkata R. Bulusu, Philip Smith, Eleanor Rattenberry, Fiona Lalloo
المساهمون: Ascher, David [0000-0003-2948-2413], Andrews, Katrina [0000-0002-3261-1709], Smith, Philip [0000-0002-9306-1747], Whitworth, James [0000-0002-3682-2298], Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.diagnostic_test, In silico, pathogenesis, SDHA, Original Articles, Biology, Gene mutation, Germline, 3. Good health, 03 medical and health sciences, 030104 developmental biology, Germline mutation, variant, medicine, Mutation testing, Missense mutation, Original Article, Molecular Biology, Genetics (clinical), Genetic testing
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35c52709a0948f52c3a1e8f6b04d0bb1
https://www.repository.cam.ac.uk/handle/1810/263335 -
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المؤلفون: Alison Sleigh, Claire Adams, Inês Barroso, Robert K. Semple, Martin Armstrong, Julie Harris, Torben Hansen, Felicity Payne, Alexander M. Rossor, Vladimir Saudek, Elif A. Oral, David B. Savage, Anette P. Gjesing, John Crawford, Rebecca J. Brown, Simeon I. Taylor, Oluf Pedersen, Sigrid Bjerge Gribsholt, Eamonn R. Maher, Mary M. Reilly, Nuno Rocha, Matthew Page, Duncan McHale, David A Bulger, Jette Bork-Jensen, Andrea Frontini, Helen Cox, Stephen O'Rahilly, Hannah Titheradge, Rachel G. Knox, Bjørn Richelsen
المساهمون: Adams, Claire [0000-0002-4445-4747], Barroso, Ines [0000-0001-5800-4520], O'Rahilly, Stephen [0000-0003-2199-4449], Maher, Eamonn [0000-0002-6226-6918], Savage, David [0000-0002-7857-7032], Semple, Robert [0000-0001-6539-3069], Apollo - University of Cambridge Repository
المصدر: eLife
Rocha, N M, Bulger, D A, Frontini, A, Titheradge, H, Gribsholt, S B, Knox, R, Page, M, Harris, J, Payne, F, Adams, C, Sleigh, A, Crawford, J, Gjesing, A P, Bork-Jensen, J, Pedersen, O, Barroso, I, Hansen, T, Cox, H, Reilly, M M, Rossor, A, Brown, R J, Taylor, S I, McHale, D P, Armstrong, M, Oral, E A, Saudek, V, O'Rahilly, S I, Maher, E R, Richelsen, B, Savage, D B & Semple, R K 2017, ' Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression ', eLife, vol. 6 . https://doi.org/10.7554/eLife.23813
Rocha, N, Bulger, D A, Frontini, A, Titheradge, H, Gribsholt, S B, Knox, R, Page, M, Harris, J, Payne, F, Adams, C, Sleigh, A, Crawford, J, Gjesing, A P, Bork-Jensen, J, Pedersen, O, Barroso, I, Hansen, T, Cox, H, Reilly, M, Rossor, A, Brown, R J, Taylor, S I, McHale, D, Armstrong, M, Oral, E A, Saudek, V, O'Rahilly, S, Maher, E R, Richelsen, B, Savage, D B & Semple, R K 2017, ' Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression ', eLife, vol. 6, e23813 . https://doi.org/10.7554/eLife.23813
Rocha, N, Bulger, D A, Frontini, A, Titheradge, H, Gribsholt, S B, Knox, R, Page, M, Harris, J, Payne, F, Adams, C, Sleigh, A, Crawford, J, Gjesing, A P, Bork-Jensen, J, Pedersen, O, Barroso, I, Hansen, T, Cox, H, Reilly, M, Rossor, A, Brown, R J, Taylor, S I, McHale, D, Armstrong, M, Oral, E A, Saudek, V, O’Rahilly, S, Maher, E R, Richelsen, B, Savage, D B & Semple, R K 2017, ' Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression ', eLIFE, vol. 6, e23813 . https://doi.org/10.7554/eLife.23813
eLife, Vol 6 (2017)مصطلحات موضوعية: 0301 basic medicine, Leptin, obesity, medicine, Calorie, MFN2, Adipose tissue, Mitochondrion, medicine.disease_cause, GTP Phosphohydrolases, 0302 clinical medicine, Biology (General), 2. Zero hunger, Human Body, Mutation, General Neuroscience, human biology, General Medicine, 3. Good health, adipose tissue, Mitochondria, Research Article, Human, medicine.medical_specialty, QH301-705.5, Science, Neuroscience(all), mitofusin, Biology, General Biochemistry, Genetics and Molecular Biology, Mitochondrial Proteins, 03 medical and health sciences, Immunology and Microbiology(all), Internal medicine, Journal Article, Humans, Human Biology and Medicine, Hyperplasia, General Immunology and Microbiology, Biochemistry, Genetics and Molecular Biology(all), Cell Biology, medicine.disease, Obesity, 030104 developmental biology, Endocrinology, 030217 neurology & neurosurgery, Hormone
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المؤلفون: David A Bulger, Jette Bork-Jensen, Rebecca J. Brown, Rachel G. Knox, Oluf Pedersen, Alexander M. Rossor, Duncan McHale, John Crawford, Claire Adams, Sigrid Bjerge Gribsholt, Martin Armstrong, Felicity Payne, Elif A. Oral, Helen Cox, Stephen O'Rahilly, David B. Savage, Inês Barroso, Vladimir Saudek, Nuno Rocha, Robert K. Semple, Matthew Page, Eamonn R. Maher, Mary M. Reilly, Bjørn Richelsen, Anette P. Gjesing, Andrea Frontini, Simeon I. Taylor, Hannah Titheradge, Alison Sleigh, Julie Harris, Torben Hansen
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Upper body, Leptin, Internal medicine, medicine, MFN2, Adipose tissue, Biology, Hyperplasia, medicine.disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9083580d9119ac81c9d78c7cf7f7e9ff
https://doi.org/10.7554/elife.23813.036
