A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

(2012) Milena Simioni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion

(2011) Michelle Dolan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DNaseI Hypersensitivity and Ultraconservation Reveal Novel, Interdependent Long-Range Enhancers at the Complex Pax6 Cis-Regulatory Region

(2011) David J. McBride et al.   PLoS One

Genomics of Long-Range Regulatory Elements

(2010) James P. Noonan et al.   Annual Review of Genomics and Human Genetics

A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group

(2009) Fatih Bayrakli et al.   JOURNAL OF CLINICAL NEUROSCIENCE

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

(2009) Gitte J Almind et al.   Molecular Cytogenetics

Pax6 3′ deletion results in aniridia, autism and mental retardation

(2008) L. K. Davis et al.   HUMAN GENETICS