Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation

(2011) T. Miyazawa et al.   CLINICAL NEPHROLOGY

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

(2011) Gordana Raca et al.   GENETICS IN MEDICINE

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

(2011) Rosemary Thomas et al.   PEDIATRIC NEPHROLOGY

Patterning and early cell lineage decisions in the developing kidney: the role of Pax genes

(2011) Gregory R. Dressler   PEDIATRIC NEPHROLOGY

PAX2mutations in fetal renal hypodysplasia

(2010) Jelena Martinovic-Bouriel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies

(2010) S Negrisolo et al.   CLINICAL GENETICS

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

(2010) S. H. Cross et al.   HUMAN MOLECULAR GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Structural Basis for DNA Recognition by the Human PAX3 Homeodomain†,‡

(2009) Gabriel Birrane et al.   BIOCHEMISTRY

Optic nerve axon number in mouse is regulated by PAX2

(2007) Ramakrishna P. Alur et al.   JOURNAL OF AAPOS