Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry

GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease

(2019) Elizabeth Waldrop et al.   Frontiers in Genetics

Autosomal dominant polycystic kidney disease

(2019) Emilie Cornec-Le Gall et al.   LANCET

ALG9 Mutation Carriers Develop Kidney and Liver Cysts

(2019) Whitney Besse et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

(2018) Whitney Besse et al.   HUMAN MUTATION

Polycystic kidney disease

(2018) Carsten Bergmann et al.   Nature Reviews Disease Primers

Isolated polycystic liver disease genes define effectors of polycystin-1 function

(2017) Whitney Besse et al.   JOURNAL OF CLINICAL INVESTIGATION

Polycystic Kidney Disease without an Apparent Family History

(2017) Ioan-Andrei Iliuta et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases

(2017) Emilie Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

(2016) Binu Porath et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Imaging Classification of Autosomal Dominant Polycystic Kidney Disease: A Simple Model for Selecting Patients for Clinical Trials

(2014) M. V. Irazabal et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Polycystin-1: a master regulator of intersecting cystic pathways

(2014) Sorin V. Fedeles et al.   TRENDS IN MOLECULAR MEDICINE

Polycystins, focal adhesions and extracellular matrix interactions

(2011) Iain A. Drummond   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

(2011) Sorin V Fedeles et al.   NATURE GENETICS

Autosomal dominant polycystic kidney disease: the last 3 years

(2009) Vicente E. Torres et al.   KIDNEY INTERNATIONAL