Publications:

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Cancers

Sánchez-Heras, A Beatriz AB; Castillejo, Adela A; García-Díaz, Juan D JD; Robledo, Mercedes M; Teulé, Alexandre A; Sánchez, Rosario R; Zúñiga, Ángel Á; Lastra, Enrique E; Durán, Mercedes M; Llort, Gemma G; Yagüe, Carmen C; Ramon Y Cajal, Teresa T; López San Martin, Consol C; López-Fernández, Adrià A; Balmaña, Judith J; Robles, Luis L; Mesa-Latorre, José M JM; Chirivella, Isabel I; Fonfria, María M; Perea Ibañez, Raquel R; Castillejo, M Isabel MI; Escandell, Inés I; Gomez, Luis L; Berbel, Pere P; Soto, Jose Luis JL

Publication Date: 2020-11-05

Variant appearance in text: FH: 139C>T

PubMed Link: 33167498

Variant Present in the following documents:

• Main text
• cancers-12-03277.pdf

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 139C>T; Gln47Ter

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5

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Hereditary leiomyomatosis and renal cell cancer syndrome.

Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne

Tulandi, Togas T; Foulkes, William D WD

Publication Date: 2016-02-02

Variant appearance in text: FH: 139C>T

PubMed Link: 26323704

Variant Present in the following documents:

• Main text

View BVdb publication page