المؤلفون: Dean Gentle, Richard C. Trembath, Eamonn R. Maher, Farida Latif, Mariam Jafri, Naomi C. Wake, Tom L. Blundell, Astrid Weber, Michael A. Simpson, David B. Ascher, Mark R. Morris, Eleanor Rattenberry, Alan Donaldson, Emma R. Woodward, Douglas E. V. Pires

المصدر: Cancer Discovery. 5:723-729

مصطلحات موضوعية: Male, Models, Molecular, Nonsense mutation, Mutation, Missense, urologic and male genital diseases, medicine.disease_cause, Germline, Germline mutation, medicine, Humans, PTEN, Missense mutation, Genetic Predisposition to Disease, Carcinoma, Renal Cell, Exome, Germ-Line Mutation, Cyclin-Dependent Kinase Inhibitor p15, Genetics, BAP1, Mutation, biology, Cyclin-Dependent Kinase 4, Cyclin-Dependent Kinase 6, Sequence Analysis, DNA, Middle Aged, Kidney Neoplasms, female genital diseases and pregnancy complications, Pedigree, Oncology, biology.protein, Cancer research, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e3d53b64a1ea1f7c421c3d82371ba5Test
https://doi.org/10.1158/2159-8290.cd-14-1096Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35c52709a0948f52c3a1e8f6b04d0bb1Test
https://www.repository.cam.ac.uk/handle/1810/263335Test

المؤلفون: Shirley Hodgson, Patrick J. Morrison, Yvonne Wallis, Fiona Macdonald, Trevor Cole, Ajith Kumar, Emma R. Woodward, Mariam Jafri, Márta Korbonits, Natalie Canham, Eleanor Rattenberry, Hayley Bair, Anna Yeung, Eamonn R. Maher, Fiona Lalloo, K McKay, Louise Izatt, Lindsey Vialard, Judit Dénes, Richard M. Irving

المصدر: The Journal of Clinical Endocrinology & Metabolism. 98:E1248-E1256

مصطلحات موضوعية: medicine.medical_specialty, SDHB, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Adrenal Gland Neoplasms, SDHA, Context (language use), Pheochromocytoma, Sensitivity and Specificity, Biochemistry, Cohort Studies, Paraganglioma, Endocrinology, Cost Savings, Internal medicine, Genotype, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Prospective Studies, Germ-Line Mutation, Genetic testing, medicine.diagnostic_test, business.industry, Proto-Oncogene Proteins c-ret, Biochemistry (medical), Health Care Costs, medicine.disease, United Kingdom, Succinate Dehydrogenase, Protein Subunits, Head and Neck Neoplasms, Von Hippel-Lindau Tumor Suppressor Protein, Costs and Cost Analysis, SDHD, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8d74974694c128170f21c0ed77068daTest
https://doi.org/10.1210/jc.2013-1319Test

المؤلفون: Salwati Shuib, Farida Latif, Patrick H. Maxwell, Masahiro Yao, Takeshi Kishida, Wenbin Wei, Esther Meyer, Dominic J. McMullan, Mark R. Morris, Eleanor Rattenberry, Eamonn R. Maher, Hariom Sur

المصدر: Genes, Chromosomes and Cancer. 50:479-488

مصطلحات موضوعية: Epigenomics, Cancer Research, Candidate gene, von Hippel-Lindau Disease, endocrine system diseases, Tumor suppressor gene, Gene Dosage, Biology, urologic and male genital diseases, Gene dosage, Germline mutation, Renal cell carcinoma, Genetics, Carcinoma, medicine, Humans, Von Hippel–Lindau disease, Carcinoma, Renal Cell, neoplasms, Gene Expression Profiling, medicine.disease, female genital diseases and pregnancy complications, Clear cell renal cell carcinoma, Chromosomes, Human, Pair 2, Cancer research, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::098bfdcc94c59e413d0506ce1a8faaffTest
https://doi.org/10.1002/gcc.20865Test

المؤلفون: Fiona Douglas, Louise Izatt, Fiona Lalloo, Patrick J. Morrison, V.K. Ajith Kumar, Shern L. Chew, D. Gareth Evans, Emma R. Woodward, A. Brew Atkinson, Tom L. Blundell, V Murday, Simon Aylwin, Ruth Armstrong, Christopher J. Ricketts, Trevor Cole, Umasuthan Srirangalingam, Eamonn R. Maher, Gail Kirby, Nicola Bradshaw, Steve Ball, Julia R. Forman, Eleanor Rattenberry, Jackie Cook, John M. C. Connell, Pip Killick, Shirley Hodgson, Fiona Macdonald

المصدر: Human Mutation. 31:41-51

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, SDHB, DNA Mutational Analysis, Adrenal Gland Neoplasms, Pheochromocytoma, Biology, Paraganglioma, Young Adult, Germline mutation, Internal medicine, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Germ-Line Mutation, Genetics (clinical), Aged, Middle Aged, medicine.disease, Penetrance, Succinate Dehydrogenase, Phenotype, Mitochondrial respiratory chain, Endocrinology, Head and Neck Neoplasms, Child, Preschool, Cancer research, Female, SDHD

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104243ca83900d78d646efc9a48a2300Test
https://doi.org/10.1002/humu.21136Test

المؤلفون: Richard M. Barber, Cyril Chapman, Fatimah Rahman, Salwati Shuib, Farida Latif, Val Davison, Malgosia Zatyka, Dominic J. McMullan, Eleanor Rattenberry, Eamonn R. Maher, Fiona Macdonald

المصدر: American Journal of Medical Genetics Part A. :2099-2105

مصطلحات موضوعية: Heart Defects, Congenital, Candidate gene, Genotype, Microarray, Gene Dosage, Telecanthus, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Gene mapping, Intellectual Disability, Genetics, medicine, Humans, SNP, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Psychomotor retardation, Gene Expression Profiling, GTPase-Activating Proteins, Syndrome, Penetrance, Phenotype, Chromosome 3, Chromosomes, Human, Pair 3, Chromosome Deletion, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8a3f430104592a7dc748a726acaf3c3Test
https://doi.org/10.1002/ajmg.a.32824Test

المؤلفون: Michel Vekemans, Vardiella Meiner, Sophie Saunier, Marie Gonzales, Karen Meir, Martine Sinico, Françoise Menez, Colin A. Johnson, Fiona Macdonald, Christine Francannet, Emmanuelle Génin, Philippe Parent, Julia Tantau, Sophie Audollent, Claude Moraine, Sivanthiny Sivanandamoorthy, Catherine Ozilou, Marie-Christine Dauge, Rémi Salomon, Férechté Encha-Razavi, Martine Le Merrer, Chantal Esculpavit, Pascale Marcorelles, Eleanor Rattenberry, Arnold Munnich, Jelena Martinovic, Yves Dumez, Joelle Roume, Stanislas Lyonnet, Tania Attié-Bitach, Annick Toutain, Lekbir Baala, Marie-Claire Gubler, Anne-Marie Beaufrère, Marie-Claude Babron

المصدر: The American Journal of Human Genetics. 81(1):170-179

مصطلحات موضوعية: Male, TMEM67, DNA Mutational Analysis, Locus (genetics), Cell Cycle Proteins, Biology, Compound heterozygosity, Joubert syndrome, 03 medical and health sciences, Antigens, Neoplasm, Report, medicine, Genetics, Humans, Abnormalities, Multiple, Multicystic Dysplastic Kidney, Genetics(clinical), Meckel syndrome, Genetics (clinical), 030304 developmental biology, Meckel-Gruber Syndrome, 0303 health sciences, Polydactyly, urogenital system, 030305 genetics & heredity, Brain, Syndrome, medicine.disease, 3. Good health, Neoplasm Proteins, Pedigree, Cytoskeletal Proteins, Portal System, Haplotypes, Liver, RPGRIP1L, Mutation, Female, Lod Score

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad7c7dde70119773fac68e9c6268338dTest

المؤلفون: Fiona McDonald, Corinne Antignac, Christine Laclef, Jean Pierre Berthélémé, Nathalie Boddaert, Gérard Champion, Tania Attié-Bitach, Michel Vekemans, Christine Vesque, Marie Gonzales, Tiphanie Lacoste, Flora Silbermann, Sophie Saunier, Patrick Niaudet, Christoph Gerhardt, Imane Moutkine, Catherine Ozilou, Rémi Salomon, Marie Alice Macher, Isabelle Anselme, Kálmán Tory, Ulrich Rüther, Jelena Martinovic, Friedhelm Hildebrandt, Matthias T.F. Wolf, Sylvie Schneider-Maunoury, Laurianne Besse, Nathan E. Hellman, Hubert Nivet, Colin A. Johnson, Christelle Golzio, Marion Delous, Marie Claire Gubler, Férechté Encha-Razavi, Eleanor Rattenberry, Lekbir Baala, Jeanette Vierkotten

المصدر: Nature Genetics. 39:875-881

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, urogenital system, TMEM67, food and beverages, Ciliary transition zone, Biology, CC2D2A, medicine.disease, Joubert syndrome, respiratory tract diseases, Ciliopathy, Endocrinology, Nephronophthisis, RPGRIP1L, Internal medicine, Genetics, medicine, cardiovascular diseases, Meckel syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7c2d0c58f85ee941b876ec59b6998807Test
https://doi.org/10.1038/ng2039Test

المؤلفون: Eleanor Rattenberry, Stafford L. Lightman, Karen Stals, Ajith Kumar, Michael Powell, Mark Stevenson, Nadezhda Dalantaeva, Brendan O'Sullivan, Isabel Tena Garcia, Phillipe Taniere, Maralyn Druce, Naomi Fersht, Antônio Ribeiro-Oliveira, Rajesh V. Thakker, Stephanie E Baldeweg, Constantine A. Stratakis, William Drake, Rosalind A. Eeles, Cesar Luiz Boguszewski, Susan M. Webb, Christopher J. Thompson, Kassiani Skordilis, John S. Bevan, Federico Roncaroli, Claire E Higham, Linda B. Moran, Umasuthan Srirangalingam, Jane Evanson, Joan Grieve, Galina Yordanova, Treena Cranston, Sian Ellard, Cristina Preda, Plamena Gabrovska, Paraskevi Xekouki, Anna Aulinas, Jacqueline Trouillas, Christopher A. Wassif, Pinaki Dutta, Ashley B. Grossman, Amar Agha, Violeta Iotova, Martina Owens, Eamonn R. Maher, Aled Rees, Julian R. E. Davis, Márta Korbonits, Francesca Swords, Anne Barlier, Damian G. Morris, Judit Dénes

المصدر: Dénes, J, Swords, F, Rattenberry, E, Stals, K, Owens, M, Cranston, T, Xekouki, P, Moran, L, Kumar, A, Wassif, C, Fersht, N, Baldeweg, S E, Morris, D, Lightman, S, Agha, A, Rees, A, Grieve, J, Powell, M, Boguszewski, C L, Dutta, P, Thakker, R V, Srirangalingam, U, Thompson, C J, Druce, M, Higham, C, Davis, J, Eeles, R, Stevenson, M, O'sullivan, B, Taniere, P, Skordilis, K, Gabrovska, P, Barlier, A, Webb, S M, Aulinas, A, Drake, W M, Bevan, J S, Preda, C, Dalantaeva, N, Ribeiro-oliveira, A, Garcia, I T, Yordanova, G, Iotova, V, Evanson, J, Grossman, A B, Trouillas, J, Ellard, S, Stratakis, C A, Maher, E R, Roncaroli, F & Korbonits, M 2015, ' Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma : results from a large patient cohort ', J Clin Endocrinol Metab, vol. 100, no. 3, pp. E531-541 . https://doi.org/10.1210/jc.2014-3399Test, https://doi.org/10.1210/jc.2014-3399Test
The Journal of Clinical Endocrinology and Metabolism

مصطلحات موضوعية: Male, endocrine system diseases, SDHB, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Adrenal Gland Neoplasms, SDHA, Pituitary neoplasm, Biochemistry, Cohort Studies, 0302 clinical medicine, Endocrinology, Paraganglioma, JCEM Online: Advances in Genetics, Middle Aged, 3. Good health, 030220 oncology & carcinogenesis, Female, Adenoma, Adult, medicine.medical_specialty, 030209 endocrinology & metabolism, Pheochromocytoma, Genetic Heterogeneity, Young Adult, 03 medical and health sciences, Pituitary adenoma, Internal medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, Pituitary Neoplasms, Genetic Testing, Genetic Association Studies, business.industry, Biochemistry (medical), medicine.disease, R1, SDHD, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65bb109ee98db3e7dd145cf3db17cb1Test
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2014-3399Test

المؤلفون: Arndt Hartmann, J. Aidan Carney, Claudia Otto, Martin Werner, Matthias Bieg, Eleanor Rattenberry, Abbas Agaimy, Guillaume Assié, Sarah Barthelmeß, Eamonn R. Maher, Stefan Wiemann, Inga-Marie Schaefer, Jérôme Bertherat, Constantine A. Stratakis, Fabio R. Faucz, Florian Haller, Evgeny A. Moskalev, Philipp Ströbel

المصدر: Endocrine-related cancer. 21(4)

مصطلحات موضوعية: Adult, Leiomyosarcoma, Cancer Research, Pathology, medicine.medical_specialty, Lung Neoplasms, Adolescent, SDHB, Endocrinology, Diabetes and Metabolism, Bisulfite sequencing, Down-Regulation, Locus (genetics), Biology, medicine.disease_cause, Germline, Article, Epigenesis, Genetic, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Paraganglioma, Stomach Neoplasms, medicine, Humans, Epigenetics, 030304 developmental biology, Paraganglioma, Extra-Adrenal, 0303 health sciences, Membrane Proteins, DNA Methylation, Middle Aged, medicine.disease, 3. Good health, Carney Triad, CpG site, Oncology, 030220 oncology & carcinogenesis, DNA methylation, Mutation, Cancer research, CpG Islands, Female, Carcinogenesis, Chondroma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2df163bcb7d074178ece3aa66e35ca89Test
https://pubmed.ncbi.nlm.nih.gov/24859990Test