Atypical ADPKD Due to a DNAJB11 Pathogenic Variant: An Educational Case Report

por Kachmar, Jessica, El-Haffaf, Zaki, Bollée, Guillaume
Publicado 2023

FRI157 Systematic Germline Genetic Analysis In A Cohort Of Adults With Primary Aldosteronism And Hypertension Onset ≤35 yo : Low Yield Of Genetic Pathogenic Variants

por Parisien-La Salle, Stefanie, Nadine, Dumas, El-Haffaf, Zaki, Lacroix, André, Bourdeau, Isabelle
Publicado 2023

OR08-05 Case Series Of French Canadian Patients With Paragangliomas Carrying The c.397C>T SDHC Mutation: Insights On SDHC Phenotype And Outcomes

por Salle, Stefanie Parisien-La, Nadine, Dumas, El-Haffaf, Zaki, Lacroix, André, Gimenez-Roqueplo, Anne-paule, Bourdeau, Isabelle
Publicado 2023

Amyloid Deposits in a Functionally Unicuspid Stenotic Aortic Valve

por Zenses, Anne-Sophie, Leduc, Charles, Béchard, Stéphanie, Forcillo, Jessica, El Haffaf, Zaki, Do, Quoc-Bao, Pibarot, Philippe, Tournoux, François
Publicado 2022

Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings

por Cléophat, Jude Emmanuel, Dorval, Michel, El Haffaf, Zaki, Chiquette, Jocelyne, Collins, Stephanie, Malo, Benjamin, Fradet, Vincent, Joly, Yann, Nabi, Hermann
Publicado 2021

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1...

por Alenezi, Wejdan M., Fierheller, Caitlin T., Revil, Timothée, Serruya, Corinne, Mes-Masson, Anne-Marie, Foulkes, William D., Provencher, Diane, El Haffaf, Zaki, Ragoussis, Jiannis, Tonin, Patricia N.
Publicado 2022

SUN-373 Small Adrenal Incidentaloma Stable in Size Becoming a Stage IV Adrenocortical Carcinoma 10 Years Later in a Young Patient Carrying a Germline APC Variant of Uncertain Signi...

por Boily, Pascale, Gagnon, Nadia, Alguire, Catherine, Corbeil, Gilles, Latour, Mathieu, Bancos, Irina, Beauregard, Catherine, Nolet, Serge, Saad, Fred, Caceres, Katia, El Haffaf, Zaki, Olney, Harold J, Bourdeau, Isabelle
Publicado 2019

Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families

por Matis, Thibaut S., Zayed, Nadia, Labraki, Bouchra, de Ladurantaye, Manon, Matis, Théophane A., Camacho Valenzuela, José, Hamel, Nancy, Atayan, Adrienne, Rivera, Barbara, Tabach, Yuval, Tonin, Patricia N., Orthwein, Alexandre, Mes-Masson, Anne-Marie, El Haffaf, Zaki, Foulkes, William D., Polak, Paz
Publicado 2021

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population

por Alenezi, Wejdan M., Milano, Larissa, Fierheller, Caitlin T., Serruya, Corinne, Revil, Timothée, Oros, Kathleen K., Behl, Supriya, Arcand, Suzanna L., Nayar, Porangana, Spiegelman, Dan, Gravel, Simon, Mes-Masson, Anne-Marie, Provencher, Diane, Foulkes, William D., El Haffaf, Zaki, Rouleau, Guy, Bouchard, Luigi, Greenwood, Celia M. T., Masson, Jean-Yves, Ragoussis, Jiannis, Tonin, Patricia N.
Publicado 2022

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene

por Fierheller, Caitlin T., Alenezi, Wejdan M., Serruya, Corinne, Revil, Timothée, Amuzu, Setor, Bedard, Karine, Subramanian, Deepak N., Fewings, Eleanor, Bruce, Jeffrey P., Prokopec, Stephenie, Bouchard, Luigi, Provencher, Diane, Foulkes, William D., El Haffaf, Zaki, Mes-Masson, Anne-Marie, Tischkowitz, Marc, Campbell, Ian G., Pugh, Trevor J., Greenwood, Celia M. T., Ragoussis, Jiannis, Tonin, Patricia N.
Publicado 2023

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

por Fierheller, Caitlin T., Guitton-Sert, Laure, Alenezi, Wejdan M., Revil, Timothée, Oros, Kathleen K., Gao, Yuandi, Bedard, Karine, Arcand, Suzanna L., Serruya, Corinne, Behl, Supriya, Meunier, Liliane, Fleury, Hubert, Fewings, Eleanor, Subramanian, Deepak N., Nadaf, Javad, Bruce, Jeffrey P., Bell, Rachel, Provencher, Diane, Foulkes, William D., El Haffaf, Zaki, Mes-Masson, Anne-Marie, Majewski, Jacek, Pugh, Trevor J., Tischkowitz, Marc, James, Paul A., Campbell, Ian G., Greenwood, Celia M. T., Ragoussis, Jiannis, Masson, Jean-Yves, Tonin, Patricia N.
Publicado 2021