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TÃTULO: Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
AUTORES: 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; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Bin W; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrao, Anabela Natalia; Karageorgou, Vasiliki; Ordonez Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno; ...Mais
PUBLICAÇÃO: 2022, FONTE: NATURE GENETICS, VOLUME: 54, NÚMERO: 8

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TÃTULO: Redefining the MED13L syndrome
AUTORES: 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; Gerald F Cox; Steven P Angus; John F Staropoli; Ute Fischer; Vanessa Suckow; Oliver Bartsch; Andrew Chess; Hans Hilger Ropers; Thomas F Wienker; Christoph Hubner; Angela M Kaindl; Vera M Kalscheuer; ...Mais
PUBLICAÇÃO: 2015, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, NÚMERO: 10

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TÃTULO: Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Full Text
AUTORES: 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; Elisa Fazzi; Bertrand Isidor; Lieven Lagae; Andrew R Latchman; Pierre Lebon; Chumei M Li; John H Livingston; Charles M Lourenco; Maria Margherita Mancardi; Alice Masurel Paulet; Lain B McInnes; Manoj P Menezes; Cyril Mignot; James O'Sullivan; Simona Orcesi; Paolo P Picco; Enrica Riva; Robert A Robinson; Diana Rodriguez; Elisabetta Salvatici; Christiaan Scott; Marta Szybowska; John L Tolmie; Adeline Vanderver; Catherine Vanhulle; Jose Pedro Vieira; Kate Webb; Robyn N Whitney; Simon G Williams; Lynne A Wolfe; Sameer M Zuberi; Sun Hur; Yanick J Grow; ...Mais
PUBLICAÇÃO: 2014, FONTE: NATURE GENETICS, VOLUME: 46, NÚMERO: 5

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TÃTULO: CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 Full Text
AUTORES: 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; Fanny Mochel; Claude Wolf; Chokri Mhiri; Andrew Crosby; Alexis Brice; Giovanni Stevanin; ...Mais
PUBLICAÇÃO: 2009, FONTE: BRAIN, VOLUME: 132, NÚMERO: 6

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