Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

(2013) Corry MR Weemaes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

(2013) Hirohisa Nitta et al.   JOURNAL OF HUMAN GENETICS

Maintenance of DNA methylation: Dnmt3b joins the dance

(2012) Emma L. Walton et al.   Epigenetics

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient

(2012) Holger Heyn et al.   Epigenetics

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

(2012) Erica Lana et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

(2011) Jessica C. de Greef et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ICF Syndrome Mutations Cause a Broad Spectrum of Biochemical Defects in DNMT3B-Mediated De Novo DNA Methylation

(2011) Amir H. Moarefi et al.   JOURNAL OF MOLECULAR BIOLOGY

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

(2011) Marie-Elisabeth Brun et al.   PLoS One

Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome

(2010) Sole Gatto et al.   Epigenetics

ICF Syndrome in Saudi Arabia: Immunological, Cytogenetic and Molecular Analysis

(2010) Namik Kaya et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Altered Intra-Nuclear Organisation of Heterochromatin and Genes in ICF Syndrome

(2010) Andrew Jefferson et al.   PLoS One

Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues

(2010) G. Velasco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions

(2008) Shiran Yehezkel et al.   HUMAN MOLECULAR GENETICS