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26 results

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Page 1
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B; NF-France network; Wolkenstein P, Pasmant E. Pacot L, et al. J Med Genet. 2025 Nov 21;62(12):783-793. doi: 10.1136/jmg-2025-110783. J Med Genet. 2025. PMID: 40759488 Free PMC article.
The French EVAL-PLH cohort of persons with polyhandicap.
Hamouda I, Rousseau MC, Beltran Anzola A, Aim MA, de Villemeur TB, Auquier P, Baumstarck K; EVAL-PLH group. Hamouda I, et al. Sci Rep. 2022 Jul 22;12(1):12512. doi: 10.1038/s41598-022-16596-3. Sci Rep. 2022. PMID: 35869128 Free PMC article.
Implication of folate deficiency in CYP2U1 loss of function.
Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: kemlin i. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 Free PMC article.
Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1.
Chaix Y, Lauwers-Cancès V, Faure-Marie N, Gentil C, Lelong S, Schweitzer E, Rodriguez D, Iannuzzi S, Kemlin I, Dorison N, Rivier F, Carniero M, Preclaire E, Barbarot S, Lion-François L, Castelnau P. Chaix Y, et al. Among authors: kemlin i. Child Neuropsychol. 2018 May;24(4):558-574. doi: 10.1080/09297049.2017.1313970. Epub 2017 Apr 10. Child Neuropsychol. 2018. PMID: 28393676
Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.
Biotteau M, Tournay E, Baudou E, Destarac S, Iannuzzi S, Faure-Marie N, Castelnau P, Schweitzer E, Rodriguez D, Kemlin I, Dorison N, Rivier F, Carneiro M, Preclaire E, Barbarot S, Lauwers-Cancès V, Chaix Y. Biotteau M, et al. Among authors: kemlin i. J Child Neurol. 2021 Jul;36(8):625-634. doi: 10.1177/0883073820981270. Epub 2021 Jan 28. J Child Neurol. 2021. PMID: 33507832
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.
Lion-François L, Gueyffier F, Mercier C, Gérard D, Herbillon V, Kemlin I, Rodriguez D, Ginhoux T, Peyric E, Coutinho V, Bréant V, des Portes V, Pinson S, Combemale P, Kassaï B; Réseau NF1 Rhône Alpes Auvergne-France. Lion-François L, et al. Among authors: kemlin i. Orphanet J Rare Dis. 2014 Sep 10;9:142. doi: 10.1186/s13023-014-0142-4. Orphanet J Rare Dis. 2014. PMID: 25205361 Free PMC article. Clinical Trial.
At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study.
Sbidian E, Bastuji-Garin S, Valeyrie-Allanore L, Ferkal S, Lefaucheur JP, Drouet A, Brugière P, Vialette C, Combemale P, Barbarot S, Wolkenstein P; NF France Network. Sbidian E, et al. Orphanet J Rare Dis. 2011 Jul 13;6:51. doi: 10.1186/1750-1172-6-51. Orphanet J Rare Dis. 2011. PMID: 21752287 Free PMC article.
26 results