Aniridia

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

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

(2011) Beata A Nowakowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Simultaneous structural variation discovery among multiple paired-end sequenced genomes

(2011) F. Hormozdiari et al.   GENOME RESEARCH

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

(2011) Mervyn G. Thomas et al.   OPHTHALMOLOGY

NMD: RNA biology meets human genetic medicine

(2010) Madhuri Bhuvanagiri et al.   BIOCHEMICAL JOURNAL

Using protein design algorithms to understand the molecular basis of disease caused by protein–DNA interactions: the Pax6 example

(2010) Andreu Alibés et al.   NUCLEIC ACIDS RESEARCH

Compound heterozygosity for mutations inPAX6in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

(2009) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

(2009) Zeynep Tümer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

(2009) I. Slade et al.   JOURNAL OF MEDICAL GENETICS

Aniridia: current pathology and management

(2008) Helena Lee et al.   ACTA OPHTHALMOLOGICA

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

Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism

(2008) S. Xu et al.   CYTOGENETIC AND GENOME RESEARCH

Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome

(2008) Joan C. Han et al.   NEW ENGLAND JOURNAL OF MEDICINE

HeterozygousFOXC1Mutation (M161K) Associated with Congenital Glaucoma and Aniridia in an Infant and a Milder Phenotype in Her Mother

(2008) Arif O. Khan et al.   OPHTHALMIC GENETICS

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

(2003) A Malandrini et al.   CLINICAL GENETICS