Publications:

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Co-segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease.

Experimental And Therapeutic Medicine

Ranjzad, Fariba F; Tara, Ahmad A; Basiri, Abbas A; Aghdami, Nasser N; Moghadasali, Reza R

Publication Date: 2019-08

Variant appearance in text: rs145955373

PubMed Link: 31384335

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 11346C>T; rs145955373

PubMed Link: 30858458

Variant Present in the following documents:

• Main text
• 41598_2019_Article_40761.pdf

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: PKD1: 11346C>T; D3782D; rs145955373

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: PKD1: D3782D; rs145955373

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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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: 11346C>T; Asp3782=; rs145955373

PubMed Link: 27499327

Variant Present in the following documents:

• srep30850-s2.xlsx, sheet 1

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PKD1: D3782D

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Stekrova, Jitka J; Reiterova, Jana J; Svobodova, Stanislava S; Kebrdlova, Vera V; Lnenicka, Petr P; Merta, Miroslav M; Viklicky, Ondrej O; Kohoutova, Milada M

Publication Date: 2009-08-17

Variant appearance in text: PKD1: 11346C>T

PubMed Link: 19686598

Variant Present in the following documents:

• Main text
• 1471-2350-10-78.pdf

View BVdb publication page

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