Presence of compound heterozygous mutations in the PHKD1 gene in an asymptomatic patient.

Burhan M Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A Ahmed, None, Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes. Genomics data. ,vol. 10, pp. 127- 134 ,(2016) , 10.1016/J.GDATA.2016.10.009

Lena Obeidova, Tomas Seeman, Veronika Elisakova, Jana Reiterova, Alena Puchmajerova, Jitka Stekrova, Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease BMC Medical Genetics. ,vol. 16, pp. 116- 116 ,(2015) , 10.1186/S12881-015-0261-3

Asaf Vivante, Daw-Yang Hwang, Stefan Kohl, Jing Chen, Shirlee Shril, Julian Schulz, Amelie Van Der Ven, Ghaleb Daouk, Neveen A Soliman, Aravind Selvin Kumar, Prabha Senguttuvan, Elijah O Kehinde, Velibor Tasic, Friedhelm Hildebrandt, None, Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract Journal of the American Society of Nephrology. ,vol. 28, pp. 69- 75 ,(2017) , 10.1681/ASN.2015080962

Tamás Szabó, Petronella Orosz, Eszter Balogh, Eszter Jávorszky, István Máttyus, Csaba Bereczki, Zoltán Maróti, Tibor Kalmár, Attila J Szabó, George Reusz, Ildikó Várkonyi, Erzsébet Marián, Éva Gombos, Orsolya Orosz, László Madar, György Balla, János Kappelmayer, Kálmán Tory, István Balogh, Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. Pediatric Nephrology. ,vol. 33, pp. 1713- 1721 ,(2018) , 10.1007/S00467-018-3992-5

Meral Gunay-Aygun, Maya Tuchman, Esperanza Font-Montgomery, Linda Lukose, Hailey Edwards, Angelica Garcia, Surasawadee Ausavarat, Shira G Ziegler, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Roxanne Fischer, Marjan Huizing, Lisa Guay-Woodford, William A Gahl, None, PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Molecular Genetics and Metabolism. ,vol. 99, pp. 160- 173 ,(2010) , 10.1016/J.YMGME.2009.10.010

Carsten Bergmann, Jan Senderek, Ellen Windelen, Fabian Küpper, Iris Middeldorf, Frank Schneider, Christian Dornia, Sabine Rudnik-Schöneborn, Martin Konrad, Claus P Schmitt, Tomas Seeman, Thomas J Neuhaus, Udo Vester, Jutta Kirfel, Reinhard Büttner, Klaus Zerres, None, Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney International. ,vol. 67, pp. 829- 848 ,(2005) , 10.1111/J.1523-1755.2005.00148.X

Sushmita Roy, Michael J. Dillon, Richard S. Trompeter, T. Martin Barratt, AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE: LONG-TERM OUTCOME OF NEONATAL SURVIVORS Pediatric Nephrology. ,vol. 11, pp. 302- 306 ,(1997) , 10.1007/S004670050281

Sarah A Bowden, Euan J Rodger, Michael Bates, Aniruddha Chatterjee, Michael R Eccles, Cherie Stayner, None, Genome-Scale Single Nucleotide Resolution Analysis of DNA Methylation in Human Autosomal Dominant Polycystic Kidney Disease. American Journal of Nephrology. ,vol. 48, pp. 415- 424 ,(2018) , 10.1159/000494739