A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome

(2019) Andrey V Marakhonov et al.   HUMAN MOLECULAR GENETICS

Structural variation in the 3D genome

(2018) Malte Spielmann et al.   NATURE REVIEWS GENETICS

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

(2018) Constantia Aristidou et al.   PLoS One

OMIM.org: leveraging knowledge across phenotype–gene relationships

(2018) Joanna S Amberger et al.   NUCLEIC ACIDS RESEARCH

The biology and polymer physics underlying large-scale chromosome organization

(2017) Shelley Sazer et al.   TRAFFIC

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

(2015) Lara Balay et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Aniridiesyndrom

(2014) B. Käsmann-Kellner et al.   OPHTHALMOLOGE

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb includingPAX6,WT1, andPRRG4

(2013) Toshiyuki Yamamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ocular and systemic findings in a survey of aniridia subjects

(2011) Peter A. Netland et al.   JOURNAL OF AAPOS

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

(2008) David O. Robinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A