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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
Walpole, S.; Pritchard, A.L.; Cebulla, C.M.; Pilarski, R.; Stautberg, M.; Davidorf, F.H.; ... ; Hayward, N.K. 2018
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
Article / Letter to editor
metadata only
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma
Jouenne, F.; Beauchene, I.C. de; Bollaert, E.; Avril, M.F.; Caron, O.; Ingster, O.; ... ; Bressac-de Paillerets, B. 2017
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma
Article / Letter to editor
metadata only
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Bodo, S.; Colas, C.; Buhard, O.; Collura, A.; Tinat, J.; Lavoine, N.; ... ; European Consortium Care CMMRD 2015
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Article / Letter to editor
open access
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D)
Vasen, H.F.A.; Ghorbanoghli, Z.; Bourdeaut, F.; Cabaret, O.; Caron, O.; Duval, A.; ... ; EU Consortium Care CMMR-D C4CMMR-D 2014
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D)
Article / Letter to editor
open access