Bertrand Isidor
AuthID: R-00F-QDY
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TITLE: Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
AUTHORS: Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; ...More
PUBLISHED: 2022, SOURCE: NATURE GENETICS, VOLUME: 54, ISSUE: 8
AUTHORS: Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; ...More
PUBLISHED: 2022, SOURCE: NATURE GENETICS, VOLUME: 54, ISSUE: 8
INDEXED IN: Scopus WOS
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TITLE: Redefining the MED13L syndrome
AUTHORS: Abidemi Adegbola; Luciana Musante; Bert Callewaert; Patricia Maciel; Hao Hu; Bertrand Isidor; Sylvie Picker Minh; Cedric Le Caignec; Barbara Delle Chiaie; Olivier Vanakker; Bjorn Menten; Annelies Dheedene; Nele Bockaert; Filip Roelens; Karin Decaestecker; Joao Silva; Gabriela Soares; Fatima Lopes; Hossein Najmabadi; Kimia Kahrizi; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
AUTHORS: Abidemi Adegbola; Luciana Musante; Bert Callewaert; Patricia Maciel; Hao Hu; Bertrand Isidor; Sylvie Picker Minh; Cedric Le Caignec; Barbara Delle Chiaie; Olivier Vanakker; Bjorn Menten; Annelies Dheedene; Nele Bockaert; Filip Roelens; Karin Decaestecker; Joao Silva; Gabriela Soares; Fatima Lopes; Hossein Najmabadi; Kimia Kahrizi; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
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TITLE: Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Full Text
AUTHORS: Gillian I Rice; Yoandris del Toro Duany; Emma M Jenkinson; Gabriella M A Forte; Beverley H Anderson; Giada Ariaudo; Brigitte Bader Meunier; Eileen M Baildam; Roberta Battini; Michael W Beresford; Manuela Casarano; Mondher Chouchane; Rolando Cimaz; Abigail E Collins; Nuno J V Cordeiro; Russell C Dale; Joyce E Davidson; Liesbeth De Waele; Isabelle Desguerre; Laurence Faivre; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 5
AUTHORS: Gillian I Rice; Yoandris del Toro Duany; Emma M Jenkinson; Gabriella M A Forte; Beverley H Anderson; Giada Ariaudo; Brigitte Bader Meunier; Eileen M Baildam; Roberta Battini; Michael W Beresford; Manuela Casarano; Mondher Chouchane; Rolando Cimaz; Abigail E Collins; Nuno J V Cordeiro; Russell C Dale; Joyce E Davidson; Liesbeth De Waele; Isabelle Desguerre; Laurence Faivre; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 5
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TITLE: CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 Full Text
AUTHORS: Cyril Goizet; Amir Boukhris; Alexandra Durr; Christian Beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant Marechal; Bertrand Fontaine; Joao Guimaraes; Bertrand Isidor; Olivier Chazouilleres; Dominique Wendum; Djamel Grid; Francoise Chevy; Patrick F Chinnery; Paula Coutinho ; Jean Philippe Azulay; Imed Feki; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 6
AUTHORS: Cyril Goizet; Amir Boukhris; Alexandra Durr; Christian Beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant Marechal; Bertrand Fontaine; Joao Guimaraes; Bertrand Isidor; Olivier Chazouilleres; Dominique Wendum; Djamel Grid; Francoise Chevy; Patrick F Chinnery; Paula Coutinho ; Jean Philippe Azulay; Imed Feki; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 6