Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Lhermitte-duclos Disease[original query] |
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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Jun 144B (4): 484-91. Buxbaum Joseph D, Cai Guiqing, Chaste Pauline, Nygren Gudrun, Goldsmith Juliet, Reichert Jennifer, Anckarsäter Henrik, Rastam Maria, Smith Christopher J, Silverman Jeremy M, Hollander Eric, Leboyer Marion, Gillberg Christopher, Verloes Alain, Betancur Catali |
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hereditary cancer in clinical practice 2010 8 (1): 6. Riegert-Johnson Douglas L, Gleeson Ferga C, Roberts Maegan, Tholen Krysta, Youngborg Lauren, Bullock Melvin, Boardman Lisa |
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Familial cancer 2014 Mar 13 (1): 57-63. Nieuwenhuis Marry H, Kets C Marleen, Murphy-Ryan Maureen, Yntema Helger G, Evans D Gareth, Colas Chrystelle, Møller Pal, Hes Frederik J, Hodgson Shirley V, Olderode-Berends Maran J W, Aretz Stefan, Heinimann Karl, Gómez García Encarna B, Douglas Fiona, Spigelman Allan, Timshel Susanne, Lindor Noralane M, Vasen Hans F |
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature. BMC medical genomics 2023 7 16 (1): 166. Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet, Yves-Jean Bign |
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