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Page 1
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: nicolas g. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
de Masfrand S, Cogné B, Nizon M, Deb W, Goldenberg A, Lecoquierre F, Nicolas G, Bournez M, Vitobello A, Mau-Them FT, le Guyader G, Bilan F, Bauer P, Zweier C, Piard J, Pasquier L, Bézieau S, Gerard B, Faivre L, Saugier-Veber P, Piton A, Isidor B. de Masfrand S, et al. Among authors: nicolas g. Eur J Med Genet. 2024 Jun;69:104932. doi: 10.1016/j.ejmg.2024.104932. Epub 2024 Mar 5. Eur J Med Genet. 2024. PMID: 38453051 Free article.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: nicolas g. Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24. Hum Genet. 2024. PMID: 38787418 Free PMC article.
[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France].
Gorokhova S, Rouzier C, Acquaviva-Bourdain C, Baert-Desurmont S, Caputo S, Chatron N, Coulet F, Doco-Fenzy M, Keren B, Le Marechal C, Nicolas G, Procaccio V, Richard P, Romanet P, Snanoudj S, Muller J, Krahn M, Saugier-Veber P. Gorokhova S, et al. Among authors: nicolas g. Med Sci (Paris). 2024 Oct;40(10):767-769. doi: 10.1051/medsci/2024104. Epub 2024 Oct 25. Med Sci (Paris). 2024. PMID: 39450962 French. No abstract available.
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group. Nicolas G, et al. Brain. 2013 Nov;136(Pt 11):3395-407. doi: 10.1093/brain/awt255. Epub 2013 Sep 24. Brain. 2013. PMID: 24065723
Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients.
Lefebvre T, Eguether T, Thévenot E, Poli A, Chu-Van E, Krasniqi P, Schmitt C, Talbi N, Nicolas G, Puy H, Junot C, Lamazière A, Castelli F, Gouya L, Fenaille F. Lefebvre T, et al. Among authors: nicolas g. J Inherit Metab Dis. 2025 Jan;48(1):e12809. doi: 10.1002/jimd.12809. Epub 2024 Oct 25. J Inherit Metab Dis. 2025. PMID: 39460373
Associations between degree of food processing and all-cause and cause-specific mortality: a multicentre prospective cohort analysis in 9 European countries.
González-Gil EM, Matta M, Morales Berstein F, Cairat M, Nicolas G, Blanco J, Kliemann N, Bertazzi Levy R, Rauber F, Jacobs I, Al Nahas A, Cakmak EK, Vamos EP, Chang K, Yammine SG, Millett C, Touvier M, Matias Pinho MG, Tsilidis KK, Heath AK, Lill CM, Pala V, Moreno-Iribas C, De Magistris MS, Dahm CC, Bock N, Olsen A, Tjønneland A, van der Schouw YT, Amiano P, Jannasch F, Schulze MB, Romana Mancini F, Marques C, Cadeau C, Bonet C, Redondo-Sánchez D, Borch KB, Brustad M, Skeie G, Humberto-Gómez J, Macciotta A, Ferrari P, Dossus L, Gunter MJ, Huybrechts I. González-Gil EM, et al. Among authors: nicolas g. Lancet Reg Health Eur. 2025 Jan 8;50:101208. doi: 10.1016/j.lanepe.2024.101208. eCollection 2025 Mar. Lancet Reg Health Eur. 2025. PMID: 39867840 Free PMC article.
Spinal muscular atrophy is also a disorder of spermatogenesis.
Magot A, Reignier A, Binois O, Bedat-Millet AL, Davion JB, Debergé L, Ghorab K, Guyant L, Laheranne É, Laforet P, Lefeuvre C, Mallaret M, Michaud M, Omar C, Nadaj-Pakleza A, Nicolas G, Noury JB, Pegat A, Péré M, Salort-Campana E, Sole G, Spinazzi M, Tard C, Vuillerot C, Péréon Y. Magot A, et al. Among authors: nicolas g. Orphanet J Rare Dis. 2024 Dec 20;19(1):476. doi: 10.1186/s13023-024-03494-2. Orphanet J Rare Dis. 2024. PMID: 39707482 Free PMC article.
Associations between dietary mycotoxins exposures and risk of hepatocellular carcinoma in a European cohort.
Huybrechts I, Jacobs I, Biessy C, Aglago EK, Jenab M, Claeys L, Zavadil J, Casagrande C, Nicolas G, Scelo G, Altieri A, Fervers B, Oswald IP, Vignard J, Chimera B, Magistris MS, Masala G, Palli D, Padroni L, Castilla J, Jiménez-Zabala A, Frenoy P, Mancini FR, Ren X, Sonestedt E, Vineis P, Heath A, Werner M, Molina-Montes E, Dahm CC, Langmann F, Huerta JM, Brustad M, Skeie G, Schulze MB, Agudo A, Sieri S, Korenjak M, Gunter MJ, De Saeger S, De Boevre M. Huybrechts I, et al. Among authors: nicolas g. PLoS One. 2024 Dec 16;19(12):e0315561. doi: 10.1371/journal.pone.0315561. eCollection 2024. PLoS One. 2024. PMID: 39680546 Free PMC article.
839 results