A novel contiguous gene deletion ofAVPR2andARHGAP4genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1

(2010) Cecilia Gunnarsson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The F-BAR domain of SRGP-1 facilitates cell–cell adhesion duringC. elegansmorphogenesis

(2010) Ronen Zaidel-Bar et al.   JOURNAL OF CELL BIOLOGY

Microarray based analysis of 3p25-p26 deletions (3p- syndrome)

(2009) Salwati Shuib et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The F-BAR Domain of srGAP2 Induces Membrane Protrusions Required for Neuronal Migration and Morphogenesis

(2009) Sabrice Guerrier et al.   CELL

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Nephrogenic diabetes insipidus in a patient with L1 syndrome: A new report of a contiguous gene deletion syndrome includingL1CAMandAVPR2

(2008) Noël B.B. Knops et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

(2008) Lina Shao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

(2008) Masaya Fujimoto et al.   BMC Medical Genetics

AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

(2008) Elias Spanakis et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Vasopressin Receptor Mutations in Nephrogenic Diabetes Insipidus

(2008) Daniel G. Bichet   SEMINARS IN NEPHROLOGY