ProfileOfResearchers

TÃTULO: Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria Full Text
AUTORES: Jenkinson, EM; Livingston, JH; O'Driscoll, MC; Desguerre, I; Nabbout, R; Boddaert, N; Soares, G; Goncalves da Rocha, MG; D'Arrigo, S; Rice, GI; Crow, YJ;
PUBLICAÇÃO: 2018, FONTE: CLINICAL GENETICS, VOLUME: 93, NÚMERO: 2

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TÃTULO: Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function Full Text
AUTORES: Lyse Ruaud; Gillian I Rice; Christelle Cabrol; Juliette Piard; Mathieu Rodero; Lien van Eyk; Elise Boucher Brischoux; Alain Maertens de Noordhout; Ricardo Mare; Emmanuel Scalais; Fernand Pauly; Francois Guillaume Debray; William Dobyns; Carolina Uggenti; Ji Woo Park; Sun Hur; John H Livingston; Yanick J Crow; Lionel Van Maldergem;
PUBLICAÇÃO: 2018, FONTE: HUMAN MUTATION, VOLUME: 39, NÚMERO: 8

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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: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Full Text
AUTORES: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; Wui K Chong; Duccio M Cordelli; Patrick Ferreira; Joel Fluss; Ewan H Forrest; Emilio Franzoni; Caterina Garone; Simon R Hammans; Gunnar Houge; Imelda Hughes; Sebastien Jacquemont; Pierre Yves Jeannet; Rosalind J Jefferson; Ram Kumar; Georg Kutschke; Staffan Lundberg; Charles M Lourenco; Ramesh Mehta; Sakkubai Naidu; Ken K Nischal; Luis Nunes; Katrin Ounap; Michel Philippart; Prab Prabhakar; Sarah R Risen; Raphael Schiffmann; Calvin Soh; John B P Stephenson; Helen Stewart; Jon Stone; John L Tolmie; Marjo S van der Knaap; Jose P Vieira; Catheline N Vilain; Emma L Wakeling; Vanessa Wermenbol; Andrea Whitney; Simon C Lovell; Stefan Meyer; John H Livingston; Gabriela M Baerlocher; Graeme C M Black; Gillian I Rice; Yanick J Crow; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 3

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