Publications
Publications 7826 - 7850 de 33557
| Titre | DOI |
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De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features D. Lehalle; P. Vabres; A. Sorlin; T. Bierhals; M. Avila; V. Carmignac; M. Chevarin; E. Torti; Y. Abe; T. Bartolomaeus; J. Clayton-Smith; B. Cogne; I. Cusco; L. Duplomb; E. De Bont; Y. Duffourd; F. Duijkers; O. Elpeleg; A. Fattal; D. Genevieve; M.J.Guillen Sacoto; A. Guimier; D.J. Harris; M. Hempel; B. Isidor; T. Jouan; P. Kuentz; E. Koshimizu; K. Lichtenbelt; V.Loik Ramey; M. Maik; S. Miyakate; Y. Murakami; L. Pasquier; H. Pedro; L. Simone; K. Sondergaard-Schatz; J. St-Onge; J. Thevenon; I. Valenzuela; R.Abou Jamra; K. van Gassen; M.M. van Haelst; S. van Koningsbruggen; E. Verdura; C.Whelan Habela; P. Zacher; J.B. Riviere; C. Thauvin-Robinet; J. Betschinger; L. Faivre 2020 |
10.1136/jmedgenet-2019-106508 |
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DE NOVO MUTATIONS OF KIAA2022 IN FEMALES CAUSE INTELLECTUAL DISABILITY AND INTRACTABLE EPILEPSY I. De lange; K. Helbig; S. Weckhuysen; R. Moller; M. Velinov; N. Dolzhanskaya; E. Marsh; I. Helbig; O. Devinsky; S. Tang; H. Mefford; C. Myers; W. Van Paesschen; P. Striano; K. Van Gassen; M. Van Kempen; C. De Kovel; J. Piard; B. Minassian; M. Nezarati; A. Pessoa; A. Jacquette; V.'t Slot; L. Van Maldergem; E. Brilstra; B. Koeleman 2016 |
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De Novo Psoriasis Can Be Reported at Any Timepoint in Early Axial Spondyloarthritis: An Analysis of 6 Years of Follow-up of the DESIR Cohort F. Lucasson; P. Richette; K. Aouad; A. Ruyssen-Witrand; D. Wendling; B. Fautrel; L. Gossec 2021 |
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De novo renal carcinoma arising in non-functional kidney graft: a national retrospective study L. Vaudreuil; T. Bessede; R. Boissier; S. Bouye; J. Branchereau; K. Caillet; F. Kleinclauss; G. Verhoest; X. Tillou 2020 |
10.1007/s11255-020-02422-0 |
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome G. Cappuccio; C. Sayou; P. Le Tanno; E. Tisserant; A.L. Bruel; S.El Kennani; J. Sa; K.J. Low; C. Dias; M. Havlovicova; M. Hancarova; E.E. Eichler; F. Devillard; S. Moutton; J. Van-Gils; C. Dubourg; S. Odent; B. Gerard; A. Piton; T. Yamamoto; N. Okamoto; H. Firth; K. Metcalfe; A. Moh; K.A. Chapman; E. Aref-Eshghi; J. Kerkhof; A. Torella; V. Nigro; L. Perrin; J. Piard; G. Le Guyader; T. Jouan; C. Thauvin-Robinet; Y.C. Duffourd; J.K. George-Abraham; C.A. Buchanan; D. Williams; U. Kini; K. Wilson; S.B. Sousa; R.C.M. Hennekam; B. Sadikovic; J. Thevenon; J. Govin; A. Vitobello; N. Brunetti-Pierri; G. Casari; M. Pinelli; F. Musacchia; M. Mutarelli; D. Carrella; G. Vitiello; V. Capra; G. Parenti; V. Leuzzi; A. Selicorni; S. Maitz; S. Banfi; M. Zollino; M. Montomoli; D. Milani; C. Romano; A. Tummolo; D. De Brasi; A. Coppola; C. Santoro; A. Peron; C. Pantaleoni; R. Castello; S. D'Arrigo; T.Undiagnose Program Submitted |
10.1038/s41436-020-0898-y |
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature S. Nambot; L. Faivre; G. Mirzaa; J. Thevenon; A.L. Bruel; A.L. Mosca-Boidron; A. Masurel-Paulet; A. Goldenberg; N. Le Meur; A. Charollais; C. Mignot; F. Petit; M. Rossi; J. Metreau; V. Layet; D. Amram; O. Boute-Benejean; E. Bhoj; M.A. Cousin; T.M. Kruisselbrink; B.C. Lanpher; E.W. Klee; E. Fiala; D.K. Grange; W.S. Meschino; S.M. Hiatt; G.M. Cooper; H. Olivie; W.E. Smith; M. Dumas; A. Lehman; S. Adam; Cdu Souich; A.M. Elliott; J. Mwenifumbo; T.N. Nelson; C. van Karnebeek; J.M. Friedman; C. Inglese; M. Nizon; R. Guerrini; A. Vetro; E.S. Kaplan; D. Miramar; J. Van Gils; P. Fergelot; O. Bodamer; J.C. Herkert; S. Pajusalu; K. Ounap; J.J. Filiano; T. Smol; A. Piton; B. Gerard; S. Chantot-Bastaraud; T. Bienvenu; D. Li; J. Juusola; K. Devriendt; F. Bilan; C. Poe; M. Chevarin; T. Jouan; E. Tisserant; J.B. Riviere; F.Tran Mau-Them; C. Philippe; Y. Duffourd; W.B. Dobyns; R. Hevner; C. Thauvin-Robinet; C.A.U.S.E.S. Study 2020 |
10.1038/s41431-020-0571-6 |
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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy T. Mau-Them; L. Guibaud; L. Duplomb; B. Keren; K. Lindstrom; I. Marey; F. Mochel; M.J. van den Boogaard; R. Oegema; C. Nava; A. Masurel; T. Jouan; F.E. Jansen; M. Au; A.H. Chen; M. Cho; Y. Duffourd; E. Lozier; F. Konovalov; A. Sharkov; S. Korostelev; B. Urteaga; P. Dickson; M. Vera; J.A. Martinez-Agosto; A. Begemann; M. Zweier; T. Schmitt-Mechelke; A. Rauch; C. Philippe; K. Van Gassen; S. Nelson; ; J. Friedman; L. Faivre; H.J. Lin; C. Thauvin-Robinet; A. Vitobello 2019 |
10.1038/s41436-018-0143-0 |
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De novo truncating variants in the intronless IRF2BPL gene are responsible for developmental epileptic encephalopathy T. Mau-Them; A. Vitobello; L. Guibaud; L. Duplomb; B. Keren; K. Lindstrom; I. Marey; F. Mochel; M. van den Boogaard; R. Oegema; C. Nava; A. Masurel; T. Jouan; F. Jansen; M. Au; A. Chen; M. Cho; Y. Duffourd; P. Dickson; V. Moin; A. Begemann; M. Zweier; B. Zieba; T. Schmitt-Mechelke; K. Van Gassen; S. Nelson; J. Graham; J. Friedman; L. Faivre; F. Ebstein; H. Lin; T. Robinet 2019 |
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome E.E. Palmer; S. Hong; F.Al Zahrani; M.O. Hashem; F.A. Aleisa; H.M.Jalal Ahmed; T. Kandula; R. Macintosh; A.E. Minoche; C. Puttick; V. Gayevskiy; A.P. Drewl; M.J. Cowley; M. Dinger; J.A. Rosenfeld; R. Xiao; M.T. Cho; S.F. Yakubu; L.B. Henderson; M.J.Guillen Sacoto; A. Begtrup; M. Hamad; M. Shinawii; ; M.C. Jones; K. Lindstrom; R.E. Bristol; S. Kayani; M. Snyder; M.Mercedes Villanueva; A. Schteinschnaider; L. Faivre; C. Thauvin; A. Vitobello; T. Roscioli; E.P. Kirk; A. Bye; J. Merzaban; L. Jaremko; M. Jaremko; R.K. Sachdev; F.S. Alkuraya; S.T. Arolds 2019 |
10.1016/j.ajhg.2019.01.013 |
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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder L.Snijders Blok; T. Kleefstra; H. Venselaar; S. Maas; H.Y. Kroes; A.M.A. Lachmeijer; ; ; S. Tomkins; S. Bodek; T.D.D.D. Study; K. Ounap; M.H. Wojcik; C. Cunniff; K. Bergstrom; Z. Powis; S. Tang; D.N. Shinde; C. Au; A.D. Iglesias; K. Izumi; J. Leonard; A.Abou Tayoun; S.W. Baker; M. Tartaglia; M. Niceta; M.Lisa Dentici; N. Okamoto; N. Miyake; N. Matsumoto; A. Vitobello; L. Faivre; C. Philippe; C. Gilissen; L. Wiel; R. Pfundt; P. Deriziotis; H.G. Brunner; S.E. Fisher 2019 |
10.1016/j.ajhg.2019.06.007 |
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De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder S. Blok; T. Kleefstra; H. Venselaar; S. Maas; H.Y. Kroes; A.M.A. Lachmeijer; K.L.I. van Gassen; H.V. Firth; S. Tomkins; S. Bodek; K. Ounap; M. Wojcik; C. Cunniff; K. Bergstrom; Z. Powis; S. Tang; D.N. Shinde; C. Au; A.D. Iglesias; K. Izumi; J. Leonard; A.A. Tayyoun; S.W. Baker; M. Tartaglia; M. Niceta; M.L. Dentici; N. Okamoto; N. Miyake; N. Matsumoto; A. Vitobello; L. Faivre; C. Philippe; C. Gilissen; L. van de Wiel; R. Pfundt; P. Deriziotis; H.G. Brunner; S.E. Fisher; D.D.D. Study 2019 |
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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay L.E.L.M. Vissers; S. Kalvakuri; E. de Boer; S. Geuer; M. Oud; I. van Outersterp; M. Kwint; M. Witmond; S. Kersten; D.L. Polla; D. Weijers; A. Begtrup; K. McWalter; A. Ruiz; E. Gabau; ; C. Griffith; K. Weiss; C. Gamble; J. Bartley; H.J. Vernon; K. Brunet; C. Ruivenkamp; S.G. Kant; P. Kruszka; A. Larson; A. Afenjar; T.Billette de Villemeur; K. Nugent; L. Raymond; H. Venselaar; F. Demurger; C. Soler-Alfonso; D. Li; E. Bhoj; I. Hayes; N.Powell Hamilton; A. Ahmad; R. Fisher; M. van den Born; M. Willems; A. Sorlin; J. Delanne; S. Moutton; P. Christophe; F.Tran Mau-Them; A. Vitobello; H. Goel; L. Massingham; C. Phornphutkul; J. Schwab; B. Keren; P. Charles; M. Vreeburg; L. De Simone; G. Hoganson; M. Iascone; D. Milani; L. Evenepoel; N. Revencu; I. Ward; K. Burns; I. Krantz; S.E. Raible; J.R. Murrell; K. Wood; M.T. Cho; H. van Bokhoven; M. Muenke; T. Kleefstra; R. Bodmer; A.P.M. de Brouwer; D.D.D. Study 2020 |
10.1016/j.ajhg.2020.05.017 |
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De novo variants in CNOT3 cause a variable neurodevelopmental disorder R. Martin; M. Splitt; D. Genevieve; E. Aten; A. Collins; ; L. Faivre; N. Foulds; J. Giltay; R. Ibitoye; S. Joss; J. Kennedy; B. Kerr; E. Kivuva; M. Koopmans; R. Newbury-Ecob; N. Jean-Marcais; E.A.J. Peeters; S. Smithson; S. Tomkins; F. Tranmauthem; A. Piton; A. van Haeringen 2019 |
10.1038/s41431-019-0413-6 |
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DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE T.Y. Tan; X. Dong; G. Costain; L.H. Rodan; S. Lynch; A. Gupta; J.J. Dowling; S. Walker; W.K. Chung; P.Y.Billie Au; C. Griffith; B.B. Zeev; S. Moutton; O. Devinsky; G.B. Schaefer; J.F. Mantovani; E. Torti; L. Pais; J. Christodoulou; F.B.X.W.7Collaborat Grp 2020 |
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DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE T.Y. Tan; X. Dong; G. Costain; L.H. Rodan; S. Lynch; A. Gupta; J.J. Dowling; S. Walker; W.K. Chung; P.Y.Billie Au; C. Griffith; B.B. Zeev; S. Moutton; O. Devinsky; G.B. Schaefer; J.F. Mantovani; E. Torti; L. Pais; J. Christodoulou; F.B.X.W.7Collaborat Grp 2020 |
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder A. Gregor; L.G. Sadleir; R. Asadollahi; S. Azzarello-Burri; A. Battaglia; L.Bomme Ousager; P. Boonsawat; A.L. Bruel; R. Buchert; E. Calpena; B. Cogne; B. Dallapiccola; F. Distelmaier; F. Elmslie; L. Faivre; T.B. Haack; V. Harrison; A. Henderson; D. Hunt; B. Isidor; P. Joset; S. Kumada; A.M.A. Lachmeijer; M. Lees; S.Ann Lynch; F. Martinez; N. Matsumoto; C. Mcdougall; H.C. Mefford; N. Miyake; C.T. Myers; S. Moutton; A. Nesbitt; A. Novelli; C. Orellana; A. Rauch; M. Rosello; K. Saida; A.B. Santani; A. Sarkar; I.E. Scheffer; M. Shinawi; K. Steindl; J.D. Symonds; E.H. Zackai; W.Ctr Mendel Univ; A. Reis; H. Sticht; C. Zweier 2018 |
10.1016/j.ajhg.2018.07.003 |
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De novoSMARCA2variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome G. Cappuccio; C. Sayou; P. Le Tanno; E. Tisserant; A.L. Bruel; S.El Kennani; J. Sa; K.J. Low; C. Dias; M. Havlovicova; M. Hancarova; E.E. Eichler; F. Devillard; S. Moutton; J. Van-Gils; C. Dubourg; S. Odent; B. Gerard; A. Piton; T. Yamamoto; N. Okamoto; H. Firth; K. Metcalfe; A. Moh; K.A. Chapman; E. Aref-Eshghi; J. Kerkhof; A. Torella; V. Nigro; L. Perrin; J. Piard; G. Le Guyader; T. Jouan; C. Thauvin-Robinet; Y.C. Duffourd; J.K. George-Abraham; C.A. Buchanan; D. Williams; U. Kini; K. Wilson; S.B. Sousa; R.C.M. Hennekam; B. Sadikovic; J. Thevenon; J. Govin; A. Vitobello; N. Brunetti-Pierri; G. Casari; M. Pinelli; F. Musacchia; M. Mutarelli; D. Carrella; G. Vitiello; V. Capra; G. Parenti; V. Leuzzi; A. Selicorni; S. Maitz; S. Banfi; M. Zollino; M. Montomoli; D. Milani; C. Romano; A. Tummolo; D. De Brasi; A. Coppola; C. Santoro; A. Peron; C. Pantaleoni; R. Castello; S. D'Arrigo; T.Undiagnose Program Submitted |
10.1038/s41436-020-0898-y, Early Access Date = {JUL 2020 |
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De visitus non est disputandum: How Visitors to Public Museums Cluster Towards Deaccessioning M. Vecco; A. Srakar 2018 |
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De-escalation chemotherapy and hematological profiles in patients with advanced Hodgkin's lymphoma A. Seignez; O. Casasnovas; E. Ferrant; J.Noel Bastie; P. Mondoloni; L.Serge Aho; M. Boulin 2015 |
10.1007/s11096-015-0201-5 |
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Deadlock Prevention of Self-Driving Vehicles in a Network of Intersections F. Perronnet; J. Buisson; A. Lombard; A. Abbas-Turki; M. Ahmane; A.El Moudni 2019 |
10.1109/TITS.2018.2886247 |
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Dealing with Black Swan Events: An Interview with Vijay Mahajan, Founder and CEO of Basix A. Ashta 2016 |
10.1002/jsc.2085 |
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Dealing with Inequality in Mobility: Tactics, Strategies and Projects for Poor Households on the Outskirts of Paris Y. Jouffe; D. Caubel; S. Fol; B. Motte-Baumvol 2015 |
10.4000/cybergeo.26697 |
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Death and cathedral chapters in Burgundy in the XIIIth-XVth centuries J. Madignier 2018 |
10.3917/rma.243.0615 |
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Death and disability in neonates and children: Representations and challenges in the French society V. Morel; E. Cretin; S. Frache; R. Vieux 2020 |
10.1016/j.medpal.2019.08.011 |
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Death Receptor-Induced Apoptosis Signalling Regulation by Ezrin Is Cell Type Dependent and Occurs in a DISC-Independent Manner in Colon Cancer Cells E. Iessi; L. Zischler; A. Etringer; M. Bergeret; A. Morle; G. Jacquemin; A. Morizot; S. Shirley; N. Lalaoui; S.L. Elifio-Esposito; S. Fais; C. Garrido; E. Solary; O. Micheau 2015 |
10.1371/journal.pone.0126526 |