Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 9 (of 9 Records) |
| Query Trace: Fibrous Dysplasia[original query] |
|---|
| [Abnormal expression of c-myc, p53, p16 protein and GNAS1 gene mutation in fibrous dysplasia]. Zhonghua bing li xue za zhi Chinese journal of pathology 2009 May 38 (5): 292-7. Tang Juan, Zhao Hong-ye, Zheng Li, Zhang Hui-zhen, Jiang Zhi-mi |
| GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2009 May 22 (5): 718-24. Delaney David, Diss Tim C, Presneau Nadege, Hing Sandra, Berisha Fitim, Idowu Bernadine D, O'Donnell P, Skinner John A, Tirabosco Roberto, Flanagan Adrienne |
| The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases. Human pathology 2012 Aug 43 (8): 1234-42. Lee Seung Eun, Lee Eun Hee, Park Heejung, Sung Ji-Youn, Lee Hyoun Wook, Kang So Young, Seo Sungwook, Kim Byung Heon, Lee Hyojin, Seo An Na, Ahn Geunghwan, Choi Yoon- |
| Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. Human genetics 2015 Jan 134 (1): 53-65. Guay-Bélanger Sabrina, Picard Sylvain, Gagnon Edith, Morissette Jean, Siris Ethel S, Orcel Philippe, Brown Jacques P, Michou Laëtit |
| GNAS Mutations in Fibrous Dysplasia: A Comparative Study of Standard Sequencing and Locked Nucleic Acid PCR Sequencing on Decalcified and Nondecalcified Formalin-fixed Paraffin-embedded Tissues. Applied immunohistochemistry & molecular morphology : AIMM / official publication of the Society for Applied Immunohistochemistry 2015 Nov . Jour George, Oultache Alifya, Sadowska Justyna, Mitchell Talia, Healey John, Nafa Khedoudja, Hameed Mee |
| Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017 9 33 (1): 84-90. Majoor Bas Cj, Boyce Alison M, Bovée Judith Vmg, Smit Vincent Thbm, Collins Michael T, Cleton-Jansen Anne-Marie, Dekkers Olaf M, Hamdy Neveen At, Dijkstra Pd Sander, Appelman-Dijkstra Natasha |
| Increased Prevalence of Malignancies in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS): Data from a National Referral Center and the Dutch National Pathology Registry (PALGA). Calcified tissue international 2020 Nov . Hagelstein-Rotman M, Meier M E, Majoor B C J, Cleven A H G, Dijkstra P D S, Hamdy N A T, van de Sande M A J, Dekkers O M, Appelman-Dijkstra N |
| Molecular confirmation that fibrocartilaginous dysplasia is a variant of fibrous dysplasia. Journal of clinical pathology 2024 8 . Juan Zhou, Xuling Su, Dingjun Hu, Li Zhang, Chunyan Chen, Keyang Sun, Huizhen Zhang, Zhiyan L |
| DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation Sequencing. Head and neck pathology 2024 6 18 (1): 48. Gord Guo Zhu, Chuanyong Lu, Ivana Petrovic, Khedoudja Nafa, Wen Chen, Aijazuddin Syed, Satshil Rana, Michael J Klein, Sinchun Huang, Lu Wang, William D Tap, Ronald A Ghossein, Jatin Shah, Meera R Hame |
- Page last reviewed:Feb 1, 2024
- Content source: