Identification of an NPHP1 deletion causing adult form of nephronophthisis

NPHP4mutation is linked to cerebello-oculo-renal syndrome and male infertility

(2013) A.M. Alazami et al.   CLINICAL GENETICS

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

(2013) Jan Halbritter et al.   HUMAN GENETICS

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population

(2012) I. Chaari et al.   PATHOLOGIE BIOLOGIE

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

(2011) Julia Hoefele et al.   PEDIATRIC NEPHROLOGY

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

(2010) Neveen A. Soliman et al.   PEDIATRIC NEPHROLOGY

Nephronophthisis

(2010) Matthias T. F. Wolf et al.   PEDIATRIC NEPHROLOGY

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease

(2008) R. Torra et al.   Clinical Journal of the American Society of Nephrology

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

(2008) Si-Tse Jiang et al.   HUMAN MOLECULAR GENETICS

Urinary Concentration Defects and Mechanisms Underlying Nephronophthisis

(2008) Rajesh Krishnan et al.   KIDNEY & BLOOD PRESSURE RESEARCH