The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Congenital Extrarenal Malignant Rhabdoid Tumor in an Infant With Distal 22q11.2 Deletion Syndrome

(2012) Andrea L. Chakrapani et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

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

Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor

(2011) George Toth et al.   GENES CHROMOSOMES & CANCER

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion

(2010) Shobhit Madan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour

(2010) R.A. Beddow et al.   European Journal of Medical Genetics

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

(2010) Katherine W. Eaton et al.   PEDIATRIC BLOOD & CANCER

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

(2009) Lucie Lafay-Cousin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

(2009) S. Bruce et al.   JOURNAL OF MEDICAL GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

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

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