Publications:

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: RET: 3079C>G; Leu1027Val

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Kidney International

Hwang, Daw-Yang DY; Dworschak, Gabriel C GC; Kohl, Stefan S; Saisawat, Pawaree P; Vivante, Asaf A; Hilger, Alina C AC; Reutter, Heiko M HM; Soliman, Neveen A NA; Bogdanovic, Radovan R; Kehinde, Elijah O EO; Tasic, Velibor V; Hildebrandt, Friedhelm F

Publication Date: 2014-06

Variant appearance in text: RET: 3079C>G; L1027V

PubMed Link: 24429398

Variant Present in the following documents:

• Main text
• nihms543078.pdf

View BVdb publication page