Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2

Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction

(2011) Jun Li He et al.   EUROPEAN JOURNAL OF PEDIATRICS

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

(2011) Linda M. Reis et al.   HUMAN GENETICS

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases

(2010) J. Gonzalez-Rodriguez et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

(2010) KF Schilter et al.   CLINICAL GENETICS

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

(2010) Liat Ashkenazi-Hoffnung et al.   HUMAN GENETICS

Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families

(2010) Han-Na Kim et al.   JOURNAL OF HUMAN GENETICS

Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip

(2009) Satoshi Suzuki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional analysis of BMP4 mutations identified in pediatric CAKUT patients

(2009) Mansoureh Tabatabaeifar et al.   PEDIATRIC NEPHROLOGY

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

(2008) Preeti Bakrania et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous deletion at 14q22.1-q22.3 including theBMP4gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

(2008) Shin Hayashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel heterozygousOTX2mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

(2008) Alexander Wyatt et al.   HUMAN MUTATION

A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency

(2008) Daniel Diaczok et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

OTX2Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using theIRBP,HESX1, andPOU1F1Promoters

(2008) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

OTX2 Loss of Function Mutation Causes Anophthalmia and Combined Pituitary Hormone Deficiency with a Small Anterior and Ectopic Posterior Pituitary

(2008) Toshihiro Tajima et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Direct fluorescent labelling of clones by DOP PCR

(2008) Liesbeth Backx et al.   Molecular Cytogenetics