Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

(2011) Kari Lima et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome

(2010) Kazuo Momma   AMERICAN JOURNAL OF CARDIOLOGY

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

(2010) Bernard Thienpont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder

(2010) Willem Verhoeven et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

(2010) Y. Qiao et al.   HUMAN GENETICS

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

(2010) Tracy Busse et al.   HUMAN MUTATION

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

(2010) Roland Barriot et al.   Genome Medicine

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

(2009) Caroline Ogilvie et al.   Molecular Cytogenetics

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The del22q11.2 Candidate Gene Tbx1 Controls Regional Outflow Tract Identity and Coronary Artery Patterning

(2008) Magali Théveniau-Ruissy et al.   CIRCULATION RESEARCH

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

(2008) Olaug K. Rødningen et al.   European Journal of Medical Genetics

A new type of ERK1/2 autophosphorylation causes cardiac hypertrophy

(2008) Kristina Lorenz et al.   NATURE MEDICINE

ENDEAVOUR update: a web resource for gene prioritization in multiple species

(2008) L.-C. Tranchevent et al.   NUCLEIC ACIDS RESEARCH

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

(2008) J. Newbern et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA