Publications:

---

Intrafamilial Variability of ADPKD.

Kidney International Reports

Lanktree, Matthew B MB; Guiard, Elsa E; Li, Weili W; Akbari, Pedram P; Haghighi, Amirreza A; Iliuta, Ioan-Andrei IA; Shi, Belili B; Chen, Chen C; He, Ning N; Song, Xuewen X; Margetts, Peter J PJ; Ingram, Alistair J AJ; Khalili, Korosh K; Paterson, Andrew D AD; Pei, York Y

Publication Date: 2019-07

Variant appearance in text: PKD1: G3651S

PubMed Link: 31317121

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

---

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics

He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-10-17

Variant appearance in text: PKD1: 10951G>A; Gly3651Ser

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

View BVdb publication page

---

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PKD1: G3651S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

---

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports

Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M

Publication Date: 2016-08-08

Variant appearance in text: PKD1: Gly3651Ser

PubMed Link: 27499327

Variant Present in the following documents:

• Main text
• srep30850.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PKD1: G3651S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M

Publication Date: 2014-04-03

Variant appearance in text: PKD1: 10951G>A; Gly3651Ser

PubMed Link: 24694054

Variant Present in the following documents:

• Main text
• 1471-2350-15-41.pdf

View BVdb publication page

---