Publications:

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Scientific Reports

Ali, Hamad H; Al-Mulla, Fahd F; Hussain, Naser N; Naim, Medhat M; Asbeutah, Akram M AM; AlSahow, Ali A; Abu-Farha, Mohamed M; Abubaker, Jehad J; Al Madhoun, Ashraf A; Ahmad, Sajjad S; Harris, Peter C PC

Publication Date: 2019-03-11

Variant appearance in text: PKD1: 83G>C; Arg28Pro

PubMed Link: 30858458

Variant Present in the following documents:

• 41598_2019_Article_40761.pdf

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Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation

Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY

Publication Date: 2017-07

Variant appearance in text: PKD1: 83G>C; Arg28Pro

PubMed Link: 28378423

Variant Present in the following documents:

• HUMU-38-870-s001.pdf

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High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bmc Nephrology

Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S

Publication Date: 2011-10-18

Variant appearance in text: PKD1: 83G>C; Arg28Pro

PubMed Link: 22008521

Variant Present in the following documents:

• 1471-2369-12-57.pdf

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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Vouk, Katja K; Strmecki, Lana L; Stekrova, Jitka J; Reiterova, Jana J; Bidovec, Matjaz M; Hudler, Petra P; Kenig, Anton A; Jereb, Simona S; Zupanic-Pajnic, Irena I; Balazic, Joze J; Haarpaintner, Guido G; Leskovar, Bostjan B; Adamlje, Anton A; Skoflic, Antun A; Dovc, Reina R; Hojs, Radovan R; Komel, Radovan R

Publication Date: 2006-01-23

Variant appearance in text: PKD1: 83G>C

PubMed Link: 16430766

Variant Present in the following documents:

• Main text
• 1471-2350-7-6.pdf

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