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Page 1
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ. Anderson BH, et al. Among authors: mayer j. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084. Nat Genet. 2012. PMID: 22267198 Free article.
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Livingston JH, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli DM, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, Stone J, van der Knaap MS, van Esch H, van Mol C, Wakeling E, Whitney A, Rice GI, Crow YJ. Livingston JH, et al. Among authors: mayer j. Neuropediatrics. 2014 Jun;45(3):175-82. doi: 10.1055/s-0033-1364180. Epub 2014 Jan 9. Neuropediatrics. 2014. PMID: 24407470
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.
Belot A, Kasher PR, Trotter EW, Foray AP, Debaud AL, Rice GI, Szynkiewicz M, Zabot MT, Rouvet I, Bhaskar SS, Daly SB, Dickerson JE, Mayer J, O'Sullivan J, Juillard L, Urquhart JE, Fawdar S, Marusiak AA, Stephenson N, Waszkowycz B, W Beresford M, Biesecker LG, C M Black G, René C, Eliaou JF, Fabien N, Ranchin B, Cochat P, Gaffney PM, Rozenberg F, Lebon P, Malcus C, Crow YJ, Brognard J, Bonnefoy N. Belot A, et al. Among authors: mayer j. Arthritis Rheum. 2013 Aug;65(8):2161-71. doi: 10.1002/art.38008. Arthritis Rheum. 2013. PMID: 23666743 Free PMC article.
Gadopiclenol: A q = 2 Gadolinium-Based MRI Contrast Agent Combining High Stability and Efficacy.
Maimouni I, Henoumont C, De Goltstein MC, Mayer JF, Dehimi A, Boubeguira Y, Kattenbeck C, Maas TJ, Decout N, Strzeminska I, Bazin G, Medina C, Factor C, Rousseaux O, Karst U, Laurent S, Catoen S. Maimouni I, et al. Among authors: mayer jf. Invest Radiol. 2024 Oct 9. doi: 10.1097/RLI.0000000000001121. Online ahead of print. Invest Radiol. 2024. PMID: 39724578
Impact of Convulsive Maternal Seizures on Fetus Dynamics.
Toma M, Mayer J, Bekbolatova M, Devine T, Ryo P. Toma M, et al. Among authors: mayer j. Int J Numer Method Biomed Eng. 2025 Jan;41(1):e3901. doi: 10.1002/cnm.3901. Int J Numer Method Biomed Eng. 2025. PMID: 39721594
Respiratory Viruses in Patients With Hematological Malignancy in Boreal Autumn/Winter 2023-2024: EPICOVIDEHA-EPIFLUEHA Report.
Salmanton-García J, Marchesi F, Navrátil M, Piukovics K, Del Principe MI, Criscuolo M, Bilgin YM, Fracchiolla NS, Vena A, Romano A, Falces-Romero I, Sgherza N, Heras-Fernando I, Biernat MM, Petzer V, Žák P, Weinbergerová B, Samarkos M, Erben N, van Praet J, López-García A, Labrador J, Lahmer T, Drgoňa Ľ, Merelli M, Cuccaro A, Martín-Pérez S, Dávila-Valls J, Farina F, Cattaneo C, Pinczés LI, Magyari F, Espigado I, Buquicchio C, Vinh DC, Stoma I, Čerňan M, Prezioso L, Papa MV, Plantefeve G, Khedr RA, Batinić J, Magliano G, Erdem S, Khostelidi S, Čolović N, Nappi D, García-Ramírez P, Góra J, Callejas-Charavia M, Tłusty J, Bakker M, Wojtyniak E, Antić D, Magdziak A, Dargenio M, Idrizović L, Pantić N, Stojanoski Z, Eisa N, Otašević V, Marchetti M, Mackenzie E, Garcia-Vidal C, Aujayeb A, Almasari A, Miranda-Castillo C, Gavriilaki E, Coppola N, Busca A, Adžić-Vukičević T, Schönlein M, Hersby DS, Gräfe SK, Glenthøj A, Aiello TF, Cvetanoski M, Mitrović M, Cerchione C, Prin R, Varricchio G, Arellano E, Córdoba R, Mayer J, Víšek B, Wolf D, Anastasopoulou AN, Delia M, Musto P, Leotta D, Bavastro M, Limongelli A, Sciumè M, van den Ven L, Fianchi L, Brunetti SC, Drozd-Sokołowska J, Dąbro… See abstract for full author list ➔ Salmanton-García J, et al. Among authors: mayer j. Am J Hematol. 2024 Dec 23. doi: 10.1002/ajh.27565. Online ahead of print. Am J Hematol. 2024. PMID: 39715069
Asciminib add-on to imatinib demonstrates sustained high rates of ongoing therapy and deep molecular responses with prolonged follow-up in the ASC4MORE study.
Hughes TP, Saglio G, Geissler J, Kim DW, Lomaia E, Mayer J, Turkina A, Kapoor S, Cardoso AP, Nieman B, Quenet S, Cortes JE. Hughes TP, et al. Among authors: mayer j. J Hematol Oncol. 2024 Dec 18;17(1):125. doi: 10.1186/s13045-024-01642-6. J Hematol Oncol. 2024. PMID: 39696526 Free PMC article. Clinical Trial.
3,656 results