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1Academic Journal
المؤلفون: Gomes, Carolina, Gayden, Tenzin, Bajic, Andrea, Harraz, Osama, Pratt, Jonathan, Nikbakht, Hamid, Bareke, Eric, Goncalves, Marina, Castro, Wagner, St-Onge, Pascal, Sinnett, Daniel, Han, HyeRim, Rivera, Barbara, Mikael, Leonie, DeJay, Nicolas, Kleinman, Claudia, Valera, Elvis, Bassenden, Angelia, Berghuis, Albert, Majewski, Jacek, Nelson, Mark, Gomez, Ricardo, Jabado, Nada
المصدر: Gomes , C , Gayden , T , Bajic , A , Harraz , O , Pratt , J , Nikbakht , H , Bareke , E , Goncalves , M , Castro , W , St-Onge , P , Sinnett , D , Han , H , Rivera , B , Mikael , L , DeJay , N , Kleinman , C , Valera , E , Bassenden , A , Berghuis , A , Majewski , J , Nelson , M , Gomez , R & Jabado , N 2018 , ' TRPV4 and KRAS and FGFR1 ....
مصطلحات موضوعية: Adolescent, Adult, Aged, Child, Computer Simulation, Female, Gain of Function Mutation, Giant Cell Tumor of Bone/genetics, HEK293 Cells, High-Throughput Nucleotide Sequencing, Humans, Jaw Neoplasms/genetics, MAP Kinase Signaling System, Male, Middle Aged, Patch-Clamp Techniques, Proto-Oncogene Proteins p21(ras)/genetics, Receptor, Fibroblast Growth Factor, Type 1/genetics, Sequence Analysis, DNA, RNA, TRPV Cation Channels/genetics, Whole Exome Sequencing, Young Adult
وصف الملف: application/pdf
الاتاحة: https://research.manchester.ac.uk/en/publications/06bc5c6f-976e-4e8b-b033-3093c094895e
https://doi.org/10.1038/s41467-018-06690-4
https://pure.manchester.ac.uk/ws/files/85064563/TRPV4_and_KRAS_and_FGFR1_gain_of_function_mutations_drive_giant_cell_lesions_of_the_jaw_41467_2018_Article_6690.pdf
http://www.scopus.com/inward/record.url?scp=85055900900&partnerID=8YFLogxK -
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المؤلفون: Frederik J. Hes, Jan Maarten Cobben, Hans Morreau, Romana T. Netea-Maier, Bruce H. R. Wolffenbuttel, Gerlof D. Valk, Karin van der Tuin, Fred H. Menko, Muriel A. Adank, Bernadette P M van Nesselrooij, Neveen A. T. Hamdy, Carli M. J. Tops, Jan C. Oosterwijk, Marjolijn C.J. Jongmans
المساهمون: Medical Genetics, ANS - Cellular & Molecular Mechanisms, Paediatric Genetics, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Journal of Clinical Endocrinology and Metabolism, 102, 4534-4540
Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102, 12, pp. 4534-4540
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540
van der Tuin, K, Tops, C M J, Adank, M A, Cobben, J M, Hamdy, N A T, Jongmans, M C, Menko, F H, van Nesselrooij, B P M, Netea-Maier, R T, Oosterwijk, J C, Valk, G D, Wolffenbuttel, B H R, Hes, F J & Morreau, H 2017, ' CDC73-Related Disorders : Clinical Manifestations and Case Detection in Primary Hyperparathyroidism ', The Journal of clinical endocrinology and metabolism, vol. 102, no. 12, pp. 4534-4540 . https://doi.org/10.1210/jc.2017-01249
The Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540. ENDOCRINE SOCمصطلحات موضوعية: Male, Pediatrics, Hyperparathyroidism, Primary/genetics, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Penetrance, Jaw Neoplasms/genetics, Biochemistry, 0302 clinical medicine, Endocrinology, Child, Parathyroid adenoma, Netherlands, Medicine(all), FAMILIAL ISOLATED HYPERPARATHYROIDISM, JAW TUMOR SYNDROME, Parathyroid Neoplasms/genetics, Middle Aged, Hyperparathyroidism, Primary, CANCER, Jaw Neoplasms, Parathyroid Neoplasms, Parathyroid carcinoma, HRPT2 GENE, 030220 oncology & carcinogenesis, Cohort studies, young adult, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], GENETIC ANALYSES, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Mutation/genetics, Genetic counseling, 030209 endocrinology & metabolism, Context (language use), Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Tumor Suppressor Proteins/genetics, 03 medical and health sciences, Germline mutation, All institutes and research themes of the Radboud University Medical Center, Internal medicine, GERMLINE, medicine, PARATHYROID CARCINOMA, MANAGEMENT, Humans, Germ-Line Mutation, Aged, Retrospective Studies, Hyperparathyroidism, business.industry, MUTATIONS, Tumor Suppressor Proteins, Biochemistry (medical), medicine.disease, PARAFIBROMIN, Mutation, business, aged, 80 and over, Primary hyperparathyroidism
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Heikinheimo, K., Huhtala, J.-M., Thiel, A., Kurppa, K. J., Heikinheimo, H., Kovac, M., Kragelund, C., Warfvinge, G., Dawson, H., Elenius, K., Ristimäki, A., Baumhoer, D., Morgan, P. R.
المصدر: Heikinheimo , K , Huhtala , J-M , Thiel , A , Kurppa , K J , Heikinheimo , H , Kovac , M , Kragelund , C , Warfvinge , G , Dawson , H , Elenius , K , Ristimäki , A , Baumhoer , D & Morgan , P R 2019 , ' The Mutational Profile of Unicystic Ameloblastoma ' , Journal of Dental Research , vol. 98 , no. 1 , pp. 54-60 . https://doi.org/10.1177/0022034518798810
مصطلحات موضوعية: Ameloblastoma/genetics, Genetic Markers, Humans, Jaw Neoplasms/genetics, Mitogen-Activated Protein Kinase Kinases, Mutation, Neoplasm Recurrence, Local, Odontogenic Tumors/genetics, Prognosis, Proto-Oncogene Proteins B-raf/genetics
الاتاحة: https://curis.ku.dk/portal/da/publications/the-mutational-profile-of-unicystic-ameloblastoma(aeaed17d-c36f-4f2a-8b45-05101c39f08a).html
https://doi.org/10.1177/0022034518798810 -
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المؤلفون: Marina Gonçalves Diniz, Alessandra Pires Duarte, Bruna Viana Antonini Guimarães, Carolina Cavaliéri Gomes, Silvia Regina Rogatto, Ricardo Santiago Gomez, Luiz Cláudio Pires Duarte, Rolando A R Villacis
المصدر: Diniz, M G, Duarte, A P, Villacis, R A, Guimarães, B V A, Duarte, L C P, Rogatto, S R, Gomez, R S & Gomes, C C 2017, ' Rare copy number alterations and copy-neutral loss of heterozygosity revealed in ameloblastomas by high-density whole-genome microarray analysis ', Journal of Oral Pathology & Medicine, vol. 46, no. 5, pp. 371-376 . https://doi.org/10.1111/jop.12505
مصطلحات موضوعية: 0301 basic medicine, Male, Adult, Cancer Research, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Adolescent, government.form_of_government, ameloblastic carcinoma, Loss of Heterozygosity, Biology, DNA Copy Number Variations/genetics, medicine.disease_cause, Jaw Neoplasms/genetics, Gene dosage, Pathology and Forensic Medicine, Ameloblastoma, Loss of heterozygosity, ameloblastoma, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Child, Gene, Oligonucleotide Array Sequence Analysis, Mutation, Loss of Heterozygosity/genetics, Ameloblastoma/genetics, odontogenic tumor, Odontogenic tumor, medicine.disease, Jaw Neoplasms, whole-genome microarray, Ameloblastic carcinoma, 030104 developmental biology, Otorhinolaryngology, 030220 oncology & carcinogenesis, Genomic Profile, government, Cancer research, Periodontics, Female, Oral Surgery
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5Academic Journal
المؤلفون: Newey, P. J., Bowl, M. R., Thakker, R. V.
المصدر: Newey , P J , Bowl , M R & Thakker , R V 2009 , ' Parafibromin-functional insights ' , Journal of Internal Medicine , vol. 266 , no. 1 , pp. 84-98 . https://doi.org/10.1111/j.1365-2796.2009.02107.x
مصطلحات موضوعية: Amino Acid Sequence, Animals, Genetic Predisposition to Disease, Humans, Hyperparathyroidism/genetics, Jaw Neoplasms/genetics, Molecular Sequence Data, Neoplasm Proteins/genetics, Neoplastic Syndromes, Hereditary/genetics, Parathyroid Neoplasms/genetics, Tumor Suppressor Proteins/genetics