Publications:

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: PKD1: 6487C>T; Arg2163X

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

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Exome sequencing of Saudi Arabian patients with ADPKD.

Renal Failure

Al-Muhanna, Fahad A FA; Al-Rubaish, Abdullah M AM; Vatte, Chittibabu C; Mohiuddin, Shamim Shaikh SS; Cyrus, Cyril C; Ahmad, Arafat A; Shakil Akhtar, Mohammed M; Albezra, Mohammad Ahmad MA; Alali, Rudaynah A RA; Almuhanna, Afnan F AF; Huang, Kai K; Wang, Lusheng L; Al-Kuwaiti, Feras F; Elsalamouni, Tamer S Ahmed TSA; Al Hwiesh, Abdullah A; Huang, Xiaoyan X; Keating, Brendan B; Li, Jiankang J; Lanktree, Matthew B MB; Al-Ali, Amein K AK

Publication Date: 2019-11

Variant appearance in text: PKD1: 6487C>T; Arg2163*

PubMed Link: 31488014

Variant Present in the following documents:

• Main text
• IRNF_41_1655453.pdf

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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: 6487C>T; Arg2163X

PubMed Link: 31317121

Variant Present in the following documents:

• mmc1.pdf

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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: 6487C>T; Arg2163*

PubMed Link: 27499327

Variant Present in the following documents:

• srep30850-s4.xlsx, sheet 1

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Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

American Journal Of Human Genetics

Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC

Publication Date: 2001-01

Variant appearance in text: PKD1: R2163X

PubMed Link: 11115377

Variant Present in the following documents:

• Main text

View BVdb publication page