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Page 1
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A. Thomas Q, et al. Among authors: masson a. Am J Hum Genet. 2022 Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30. Am J Hum Genet. 2022. PMID: 36044892 Free PMC article.
L1 chimeric transcripts are expressed in healthy brain and their deregulation in glioma follows that of their host locus.
Pinson ME, Court F, Masson A, Renaud Y, Fantini A, Bacoeur-Ouzillou O, Barriere M, Pereira B, Guichet PO, Chautard E, Karayan-Tapon L, Verrelle P, Arnaud P, Vaurs-Barrière C. Pinson ME, et al. Among authors: masson a. Hum Mol Genet. 2022 Aug 17;31(15):2606-2622. doi: 10.1093/hmg/ddac056. Hum Mol Genet. 2022. PMID: 35298627 Free PMC article.
Hypereosinophilia and Hypereosinophilic Syndromes: First Findings From a Nationwide Multicenter Cohort.
Lefèvre G, Bleuse S, Puyade M, Moulis G, Néel A, Abisror N, Baudet A, Bonnotte B, Dion J, Dossier A, Grall M, Lifermann F, Limal N, Lioger B, Machelart I, Mohr C, Outh R, Queyrel-Moranne V, Slama B, Tréfond L, Abou Chahla W, Ackerman F, Belfeki N, Berezne A, Blade JS, Bouderbala MA, Chebrek S, Cottin V, De Almeida S, De Masson A, Dezoteux F, Goulenok T, Jachiet V, Jouvray M, Latu I, Ledoult E, Leurs A, Lugosi M, Martin M, Melboucy-Belkhir S, Morati-Hafsaoui C, Quemeneur T, Rohmer J, Roy-Peaud F, Sanges S, Schleinitz N, Staumont-Salle D, Taillé C, Terriou L, Tieulie N, Koenga JDE, Schwarb L, Panel K, Kahn JE, Groh M; COHESion study group. Lefèvre G, et al. Among authors: de masson a. Allergy. 2025 Jan 5. doi: 10.1111/all.16463. Online ahead of print. Allergy. 2025. PMID: 39757773
Erratum: Real-life efficacy of immunotherapy for Sézary syndrome: a multicenter observational cohort study.
Bozonnat A, Beylot-Barry M, Dereure O, D'Incan M, Quereux G, Guenova E, Perier-Muzet M, Dalle S, Grange F, Viguier MA, Ram-Wolff C, Feldmeyer L, Beltraminelli H, Bonnet N, Amatore F, Maubec E, Franck N, Machet L, Chasset F, Brunet-Possenti F, Bouaziz JD, Battistella M, Donzel M, Pham-Ledard A, Bejar C, Moins-Teisserenc H, Mourah S, Saiag P, Hainaut E, Michel C, Bens G, Adamski H, Aubin F, Boulinguez S, Joly P, Tedbirt B, Templier I, Troin L, Montaudié H, Ingen-Housz-Oro S, Faiz S, Mortier L, Dobos G, Bagot M, Resche-Rigon M, Montlahuc C, Serret-Larmande A, de Masson A; Cutaneous Lymphomas French Study Group. Bozonnat A, et al. Among authors: de masson a. EClinicalMedicine. 2024 Dec 6;79:102979. doi: 10.1016/j.eclinm.2024.102979. eCollection 2025 Jan. EClinicalMedicine. 2024. PMID: 39720605 Free PMC article.
Long term noninvasive respiratory support in children with OSA-I and OSA-II: Data of a nation-wide study.
Tommesani C, Khirani S, Amaddeo A, Massenavette B, Bierme P, Taytard J, Stremler N, Baravalle-Einaudi M, Mazenq J, Ioan I, Schweitzer C, Lampin ME, Binoche A, Mordacq C, Bergounioux J, Mbieleu B, Rubinsztajn R, Sigur E, Labouret G, Genevois A, Becourt A, Hullo E, Pin I, Debelleix S, Galodé F, Bui S, Moreau J, Renoux MC, Matecki S, Lavadera ML, Heyman R, Pomedio M, Le Clainche L, Bokov P, Masson A, Hangard P, Menetrey C, Jokic M, Gachelin E, Perisson C, Pervillé A, Fina A, Giovannini-Chami L, Fleurence E, Barzic A, Breining A, Ollivier M, Labbé G, Coutier L, Aubertin G, Fauroux B. Tommesani C, et al. Among authors: masson a. Sleep Med. 2024 Nov 29;126:67-72. doi: 10.1016/j.sleep.2024.11.039. Online ahead of print. Sleep Med. 2024. PMID: 39642650
526 results