Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency

(2016) Eric Bouffet et al.   JOURNAL OF CLINICAL ONCOLOGY

Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy

(2016) Cassie N. Kline et al.   NEURO-ONCOLOGY

Increased Prevalence of Developmental Venous Anomalies in Children with Intracranial Neoplasms

(2015) B.V. Jones et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

(2015) N Lavoine et al.   JOURNAL OF MEDICAL GENETICS

Brain Parenchymal Signal Abnormalities Associated with Developmental Venous Anomalies in Children and Young Adults

(2014) L. L. Linscott et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

(2014) Doua Bakry et al.   EUROPEAN JOURNAL OF CANCER

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

(2014) Katharina Wimmer et al.   JOURNAL OF MEDICAL GENETICS

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

(2014) H F A Vasen et al.   JOURNAL OF MEDICAL GENETICS

Magnetic Resonance Imaging Findings of Developmental Venous Anomalies

(2013) E. Gökçe et al.   Clinical Neuroradiology

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

(2012) Annette F Baas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cerebral developmental venous anomalies: Current concepts

(2009) Diego San Millán Ruíz et al.   ANNALS OF NEUROLOGY

Brain Parenchymal Signal Abnormalities Associated with Developmental Venous Anomalies: Detailed MR Imaging Assessment

(2008) G.M. Santucci et al.   AMERICAN JOURNAL OF NEURORADIOLOGY