Publications - 'M'
Publications 1826 - 1850 de 1879
| Titre | DOI |
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Mutations in ACTRT1 and its transcribed non-coding elements lead to aberrant activation of the Hedgehog signaling pathway in inherited and sporadic basal cell carcinomas E. Bal; Z. Belaid-Choucair; H. Kayserili; M. Madrange; H. Park; E. Chiticariu; T. Magnaldo; D. Hohl; A. Munnich; A. Smahi 2016 |
10.1016/j.jid.2016.06.507 |
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Mutations in beta-Lactamase AmpC Increase Resistance of Pseudomonas aeruginosa Isolates to Antipseudomonal Cephalosporins M. Berrazeg; K. Jeannot; V.Yvette Nts Enguene; I. Broutin; S. Loeffert; D. Fournier; P. Plesiat 2015 |
10.1128/AAC.00825-15 |
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Mutations in CBX2 associated with gonadal anomalies in 46,XY and 46,XX individuals T. Merel; C. Eozenou; L. Van Maldergem; E. Globa; K. McElreavey; A. Bashamboo 2019 |
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Mutations in CBX2 associated with gonadal anomalies in 46,XY and 46,XX individuals T. Merel; C. Eozenou; L. Van Maldergem; E. Globa; K. McElreavey; A. Bashamboo 2019 |
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Mutations in FAM111B cause Hereditary Fibrosing Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis S. Mercier; S. Kuery; A. Magot; N. Bodak; C. Bou-Hanna; V. Cormier-Daire; A. David; L. Faivre; D. Figarella-Branger; R. Gherardi; A. Goldenberg; A. Hamel; J. Igual; D. Israel-BIet; C. Kannengiesser; C. Laboisse; C. Le Caignec; A. Munnich; J.M. Mussini; J. Piard; E. Puzenat; E. Salort-Campana; N. Soufir; C. Thauvin; Y. Pereon; B. Mayosi; S. Barbarot; S. Bezieau 2014 |
10.1016/j.nmd.2014.06.186 |
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Mutations in Gene fusA1 as a Novel Mechanism of Aminoglycoside Resistance in Clinical Strains of Pseudomonas aeruginosa A. Bolard; P. Plesiat; K. Jeannot 2018 |
10.1128/AAC.01835-17 |
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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice L. De Tomasi; P. David; C. Humbert; F. Silbermann; C. Arrondel; F. Tores; S. Fouquet; A. Desgrange; O. Niel; C. Bole-Feysot; P. Nitschke; J. Roume; M.P. Cordier; C. Pietrement; B. Isidor; P.Khau Van Kien; M. Gonzales; M.H. Saint-Frison; J. Martinovic; R. Novo; J. Piard; C. Cabrol; I.C. Verma; R. Puri; H. Journel; J. Aziza; L. Gavard; M.H. Said-Menthon; L. Heidet; S. Saunier; C. Jeanpierre 2017 |
10.1016/j.ajhg.2017.09.026 |
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Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors K. Mishra-Gorur; A.Okay Caglayan; A.E. Schaffer; C. Chabu; O. Henegariu; F. Vonhoff; G.Tugce Akguemues; S. Nishimura; W. Han; S. Tu; B. Baran; H. Gumus; C. Dilber; M.S. Zaki; H.A.A. Hossni; J.B. Riviere; H. Kayserili; E.G. Spencer; R.Oe Rosti; J. Schroth; H. Per; C. Caglar; C. Caglar; D. Doelen; J.F. Baranoski; S. Kumandas; F.J. Minja; Z. Erson-Omay; S.M. Mane; R.P. Lifton; T. Xu; H. Keshishian; W.B. Dobyns; N.C. Chi; N. Sestan; A. Louvi; K. Bilguevar; K. Yasuno; J.G. Gleeson; M. Guenel 2014 |
10.1016/j.neuron.2014.12.014 |
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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome C. Alby; K. Piquand; C. Huber; A. Megarbane; A. Ichkou; M. Legendre; F. Pelluard; F. Encha-Ravazi; G. Abi-Tayeh; B. Bessieres; S.El Chehadeh-Djebbar; N. Laurent; L. Faivre; L. Sztriha; M. Zombor; H. Szabo; M. Failler; M. Garfa-Traore; C. Bole; P. Nitschke; M. Nizon; N. Elkhartoufi; F. Clerget-Darpoux; A. Munnich; S. Lyonnet; M. Vekemans; S. Saunier; V. Cormier-Daire; T. Attie-Bitach; S. Thomas 2015 |
10.1016/j.ajhg.2015.06.003 |
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Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features R. Carapito; M. Konantz; C. Paillard; Z. Miao; A. Pichot; M.S. Leduc; Y. Yang; K.L. Bergstrom; D.H. Mahoney; D.L. Shardy; G. Alsaleh; L. Naegely; A. Kolmer; N. Paul; A. Hanauer; V. Rolli; J.S. Mueller; E. Alghisi; L. Sauteur; C. Macquin; A. Morlon; C.Sebastia Sancho; P. Amati-Bonneau; V. Procaccio; A.L. Mosca-Boidron; N. Marle; N. Osmani; O. Lefebvre; J.G. Goetz; S. Unal; N.A. Akarsu; M. Radosavljevic; M.P. Chenard; F. Rialland; A. Grain; M.C. Bene; M. Eveillard; M. Vincent; J. Guy; L. Faivre; C. Thauvin-Robinet; J. Thevenon; K. Myers; M.D. Fleming; A. Shimamura; E. Bottollier-Lemallaz; E. Westhof; C. Lengerke; B. Isidor; S. Bahram 2017 |
10.1172/JCI92876 |
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Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-beta responses through SKI stabilization I. Gori; R. George; A.G. Purkiss; S. Strohbuecker; R.A. Randall; R. Ogrodowicz; V. Carmignac; L. Faivre; D. Joshi; S. Kjaer; C.S. Hill 2021 |
10.7554/eLife.63545 |
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life J. Thevenon; M. Milh; F. Feillet; J. St-Onge; Y. Duffourd; C. Juge; A. Roubertie; D. Heron; C. Mignot; E. Raffo; B. Isidor; S. Wahlen; D. Sanlaville; N. Villeneuve; V. Darmency-Stambou; A. Toutain; M. Lefebvre; M. Chouchane; F. Huet; A. Lafon; Ade Saint Martin; G. Lesca; S.El Chehadeh; C. Thauvin-Robinet; A. Masurel-Paulet; S. Odent; L. Villard; C. Philippe; L. Faivre; J.B. Riviere 2014 |
10.1016/j.ajhg.2014.06.006 |
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Mutations in the DEAH-box RNA Helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome K. McElreavey; A. Jorgensen; C. Eozenou; T. Merel; J. Bignon-Topalovic; D. Tan; D. Houzelstein; F. Buonocore; N. Warr; R. Kay; M. Peycelon; J.P. Siffroi; I. Mazen; J. Achermann; Y. Shcherbak; J. Leger; A. Sallai; J.C. Carel; L. Martinerie; R. Le Ru; G. Conway; B. Mignot; L. Van Maldergem; R. Bertalan; E. Globa; R. Brauner; R. Jauch; S. Nef; A. Greenfield; A. Bashamboo 2019 |
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Mutations in the DEAH-box RNA Helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome K. McElreavey; A. Jorgensen; C. Eozenou; T. Merel; J. Bignon-Topalovic; D. Tan; D. Houzelstein; F. Buonocore; N. Warr; R. Kay; M. Peycelon; J.P. Siffroi; I. Mazen; J. Achermann; Y. Shcherbak; J. Leger; A. Sallai; J.C. Carel; L. Martinerie; R. Le Ru; G. Conway; B. Mignot; L. Van Maldergem; R. Bertalan; E. Globa; R. Brauner; R. Jauch; S. Nef; A. Greenfield; A. Bashamboo 2019 |
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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability K. Tatton-Brown; S. Seal; E. Ruark; J. Harmer; E. Ramsay; Sdel Vecchi Duarte; A. Zachariou; S. Hanks; E. O'Brien; L. Aksglaede; D. Baralle; T. Dabir; B. Gener; D. Goudie; T. Homfray; A. Kumar; D.T. Pilz; A. Selicorni; K. Temple; L. Van Maldergem; N. Yachelevich; R. van Montfort; N. Rahman; C.Overgrowth Consortium 2014 |
10.1038/ng.2917 |
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Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features M. Miguet; J. Thevenon; V. Laugel; M. Lefebvre; A. Bourchany; J.B. Riviere; Y. Duffourd; E. Schaefer; M.Cristina Antal; R. Abida; A.S. Weingertner; V. Kremer; P. Vabres; F. Morice-Picard; M. Gonzales; D. Lipsker; S. Fraitag; J.L. Mandel; J. Chelly; H. Dollfus; L. Faivre; C. Thauvin-Robinet; N. Calmels; S.El Chehadeh 2016 |
10.1002/pd.4965 |
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Mutations In The Gene Encoding Filamin A are a Cause of Macrothrombocytopenia: Case Report B. Cohen; J. Piard; A. Vincenot; M.A. Bertrand; A. Harroche; N. Schlegel 2017 |
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Mutations In The Gene Encoding Filamin A are a Cause of Macrothrombocytopenia: Case Report B. Cohen; J. Piard; A. Vincenot; M.A. Bertrand; A. Harroche; N. Schlegel 2017 |
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity L. Asselin; J.Rivera Alvarez; S. Heide; C.S. Bonnet; P. Tilly; H. Vitet; C. Weber; C.A. Bacino; K. Baranano; A. Chassevent; A. Dameron; L. Faivre; N.A. Hanchard; S. Mahida; K. McWalter; C. Mignot; C. Nava; A. Rastetter; H. Streff; C. Thauvin-Robinet; M.M. Weiss; G. Zapata; P.J.G. Zwijnenburg; F. Saudou; C. Depienne; C. Golzio; D. Heron; J.D. Godin 2020 |
10.1038/s41467-020-16294-6 |
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment V. Salpietro; N.T. Malintan; I. Llano-Rivas; C.G. Spaeth; S. Efthymiou; P. Striano; J. Vandrovcova; M.C. Cutrupi; R. Chimenz; E. David; G. Di Rosa; A. Marce-Grau; M. Raspall-Chaure; E. Martin-Hernandez; F. Zara; C. Minetti; O.D. Bello; R. De Zorzi; S. Fortuna; A. Dauber; M. Alkhawaja; T. Sultan; K. Mankad; A. Vitobello; Q. Thomas; F.Tran Mau-Them; L. Faivre; F. Martinez-Azorin; C.E. Prada; A. Macaya; D.M. Kullmann; J.E. Rothman; S.S. Krishnakumar; H. Houlden; D.Dev Disord Study; S.Y.N.A.P.S.Study Grp 2019 |
10.1016/j.ajhg.2019.02.016 |
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Mutations of ATR in male breast cancer predisposition M. Chevarin; N. Bourgon; D. Alcantara; M. Colonge-Rame; C. Populaire; A. Baurand; C. Jacquot; G. Bertolone; Y. Duffourd; T. Jouan; P. Jonveaux; Y. Bignon; I. Coupier; F. Cornelis; C. Cordier; M. Mozelle-Nivois; J. Riviere; P. Kuentz; J. Skrzypski; S. Lizard; R. Boidot; F. Ghiringelli; M. O'Driscoll; L. Faivre 2018 |
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Mutations of ATR in male breast cancer predisposition M. Chevarin; N. Bourgon; D. Alcantara; M. Colonge-Rame; C. Populaire; A. Baurand; C. Jacquot; G. Bertolone; Y. Duffourd; T. Jouan; P. Jonveaux; Y. Bignon; I. Coupier; F. Cornelis; C. Cordier; M. Mozelle-Nivois; J. Riviere; P. Kuentz; J. Skrzypski; S. Lizard; R. Boidot; F. Ghiringelli; M. O'Driscoll; L. Faivre 2018 |
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My body did have a sex? Gender, dialogue between biology and social sciences M. Duru-Bellat 2016 |
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My heart is in my hands: The interoceptive nature of the spontaneous sensations felt on the hands G.A. Michael; J. Naveteur; M.A. Dupuy; L. Jacquot 2015 |
10.1016/j.physbeh.2015.02.030 |
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Myalgia and statins: Separating the true from the false J. Blacher; E. Bruckert; M. Farnier; J. Ferrieres; P. Henry; M. Krempf; J.J. Mourad 2019 |
10.1016/j.lpm.2019.07.034 |