Publications:

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports

Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU

Publication Date: 2023-03

Variant appearance in text: PKD1: 5764C>T; Q1922*

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn

Audrézet, Marie-Pierre MP; Corbiere, Christine C; Lebbah, Said S; Morinière, Vincent V; Broux, Françoise F; Louillet, Ferielle F; Fischbach, Michel M; Zaloszyc, Ariane A; Cloarec, Sylvie S; Merieau, Elodie E; Baudouin, Véronique V; Deschênes, Georges G; Roussey, Gwenaelle G; Maestri, Sandrine S; Visconti, Chiara C; Boyer, Olivia O; Abel, Carine C; Lahoche, Annie A; Randrianaivo, Hanitra H; Bessenay, Lucie L; Mekahli, Djalila D; Ouertani, Ines I; Decramer, Stéphane S; Ryckenwaert, Amélie A; Cornec-Le Gall, Emilie E; Salomon, Rémi R; Ferec, Claude C; Heidet, Laurence L

Publication Date: 2016-03

Variant appearance in text: PKD1: 5764C>T; Gln1922*

PubMed Link: 26139440

Variant Present in the following documents:

• Main text

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Polycystic liver diseases: advanced insights into the molecular mechanisms.

Nature Reviews. Gastroenterology & Hepatology

Perugorria, Maria J MJ; Masyuk, Tatyana V TV; Marin, Jose J JJ; Marzioni, Marco M; Bujanda, Luis L; LaRusso, Nicholas F NF; Banales, Jesus M JM

Publication Date: 2014-12

Variant appearance in text: PKD1: 5764C>T; Gln1922Ter

PubMed Link: 25266109

Variant Present in the following documents:

• Main text

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