Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Gardner Syndrome[original query] |
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Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome. Scandinavian journal of gastroenterology 2001 1 35 (11): 1200-3. Nilbert M, Fernebro J, Kristoffersson |
Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. American journal of medical genetics. Part A 2006 Feb 140 (3): 200-4. Bisgaard Marie Luise, Bülow Steff |
ß-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology 2013 Jan 62 (2): 294-304. Huss Sebastian, Nehles Julia, Binot Elke, Wardelmann Eva, Mittler Jens, Kleine Michaela Angelika, Künstlinger Helen, Hartmann Wolfgang, Hohenberger Peter, Merkelbach-Bruse Sabine, Buettner Reinhard, Schildhaus Hans-Ulri |
Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases. Scientific reports 2020 Feb 10 (1): 3368. Trautmann Marcel, Rehkämper Jan, Gevensleben Heidrun, Becker Jessica, Wardelmann Eva, Hartmann Wolfgang, Grünewald Inga, Huss Sebasti |
Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit. International journal of clinical oncology 2022 Feb . Escudero Adela, Ferreras Cristina, Rodriguez-Salas Nuria, Corral Dolores, Rodriguez Laura, Pérez-Martínez Anton |
A novel APC mutation associated with Gardner syndrome in a Chinese family. Gene 2023 12 896 148051. Ming Zeng, Xinchen Yao, Yuhua Pan, Hongxiang Gu, Fu Xiong, Xuemin Yin, Buling Wu, Ting Ch |
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- Page last updated:May 13, 2024
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