Results 111 to 120 of about 414 (179)
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. [PDF]
J Med Genet, 2017 Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. +51 moreeuropepmc +1 more sourceMolecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. [PDF]
Mol Genet Metab, 2015 Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, Rothenbuhler A, Guggenbuhl P, Cormier C, Baujat G, Debiais F, Capri Y, Cohen-Solal M, Parent P, Chiesa J, Dieux A, Petit F, Roume J, Isnard M, Cormier-Daire V, Linglart A, Millán JL, Salles JP, Muti C, Simon-Bouy B, Mornet E. +25 moreeuropepmc +1 more sourceMutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. [PDF]
Eur J Hum Genet, 2016 Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, Dieux Coeslier A, Doray B, Dulac O, Drouin-Garraud V, Gérard M, Héron D, Isidor B, Lacombe D, Lyonnet S, Perrin L, Rio M, Roume J, Sauvion S, Toutain A, Vincent-Delorme C, Willems M, Baumann C, Verloes A. +32 moreeuropepmc +1 more sourceIdentification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions. [PDF]
Mol Syndromol, 2014 Dubourg C, Bonnet-Brilhault F, Toutain A, Mignot C, Jacquette A, Dieux A, Gérard M, Beaumont-Epinette MP, Julia S, Isidor B, Rossi M, Odent S, Bendavid C, Barthélémy C, Verloes A, David V. +15 moreeuropepmc +1 more sourceBiallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rius R, Blakes AJ, Chen Y, De Jonghe J, Alvi JR, Amblard F, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Bernstein JA, Blanc P, Buchzik D, Calame DG, Cogne B, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Isidor B, Jacquemont M, Jeanne M, Korenke GC, Kotzaeridou U, Leventer RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O’Donnell-Luria A, O’Leary MC, Olivieri S, Parida A, Pehlivan D, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Thauvin C, Thevenon J, Uebergang E, Vincent-Delorme C, Wassmer E, Wheeler MT, Yilmaz Gulec E, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N. +73 moreeuropepmc +1 more source
