Central 22q11.2 deletions

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

(2012) Simone Sanna-Cherchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Jeroen Breckpot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5Mb deletion in 22q11.2 region

(2012) Diogo Cordeiro de Queiroz Soares et al.   CLINICAL IMMUNOLOGY

Heart defects and other features of the 22q11 distal deletion syndrome

(2012) Christina R. Fagerberg et al.   European Journal of Medical Genetics

Phenotypic variability of distal 22q11.2 copy number abnormalities

(2011) Tiong Yang Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings

(2011) S. Yu et al.   CYTOGENETIC AND GENOME RESEARCH

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE

Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome

(2010) Kazuo Momma   AMERICAN JOURNAL OF CARDIOLOGY

Cerebellar Hypoplasia in a Patient with Velo-Cardio-Facial Syndrome

(2010) Koenraad Devriendt et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

(2010) Susanne Ledig et al.   FERTILITY AND STERILITY

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

(2009) Luis Fernández et al.   BMC Medical Genetics

Focal adhesion kinase is required for neural crest cell morphogenesis during mouse cardiovascular development

(2009) Ainara Vallejo-Illarramendi et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

(2008) Beverly S. Emanuel   Developmental Disabilities Research Reviews

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

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