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Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
Thauvin-Robinet C, Drunat S, Saugier Veber P, Chantereau D, Cossée M, Cassini C, Soichot P, Masurel-Paulet A, De Monléon JV, Sagot P, Huet F, Antin M, Calmels N, Faivre L, Gérard B; “réseau français de génétique moléculaire”. Thauvin-Robinet C, et al. Among authors: calmels n. Am J Med Genet A. 2012 Jul;158A(7):1735-41. doi: 10.1002/ajmg.a.35402. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678974
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Harrer P, et al. Among authors: calmels n. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18. Ann Neurol. 2023. PMID: 36333996
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Wirth T, Bonnet C, Delvallée C, Pellerin D, Bogdan T, Clément G, Schalk A, Chanson JB, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Brais B, Tranchant C, Renaud M, Anheim M. Wirth T, et al. Among authors: calmels n. J Neurol. 2024 Apr;271(4):2078-2085. doi: 10.1007/s00415-024-12182-x. Epub 2024 Jan 23. J Neurol. 2024. PMID: 38263489
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M. Wirth T, et al. Among authors: calmels n. Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20. Mov Disord. 2023. PMID: 37470282
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel JL, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, El Chehadeh S. Miguet M, et al. Among authors: calmels n. Prenat Diagn. 2016 Dec;36(13):1276-1279. doi: 10.1002/pd.4965. Epub 2016 Dec 2. Prenat Diagn. 2016. PMID: 27862069 No abstract available.
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Le Van Quyen P, Calmels N, Bonnière M, Chartier S, Razavi F, Chelly J, El Chehadeh S, Baer S, Boutaud L, Bacrot S, Obringer C, Favre R, Attié-Bitach T, Laugel V, Antal MC. Le Van Quyen P, et al. Among authors: calmels n. Am J Med Genet A. 2020 May;182(5):1236-1242. doi: 10.1002/ajmg.a.61520. Epub 2020 Feb 13. Am J Med Genet A. 2020. PMID: 32052936
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Durand B, Stoetzel C, Schaefer E, Calmels N, Scheidecker S, Kempf N, De Melo C, Guilbert AS, Timbolschi D, Donato L, Astruc D, Sauer A, Antal MC, Dollfus H, El Chehadeh S. Durand B, et al. Among authors: calmels n. Eur J Med Genet. 2020 Apr;63(4):103857. doi: 10.1016/j.ejmg.2020.103857. Epub 2020 Jan 21. Eur J Med Genet. 2020. PMID: 31978614 Review.
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, Gardeazabal J, Gener B, Julia S, Llano-Rivas I, Mazur A, Michot C, Renaldo-Robin F, Rossi M, Sabouraud P, Keren B, Depienne C, Muller J, Mandel JL, Laugel V. Calmels N, et al. Orphanet J Rare Dis. 2016 Mar 22;11:26. doi: 10.1186/s13023-016-0408-0. Orphanet J Rare Dis. 2016. PMID: 27004399 Free PMC article.
34 results