Calmels N - Search Results

1

Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification.

Saini AG, Sankhyan N, Vyas S, Laugel V, Calmels N, Singhi P. Saini AG, et al. Among authors: calmels n. Neurology. 2016 Aug 9;87(6):e56-7. doi: 10.1212/WNL.0000000000002949. Neurology. 2016. PMID: 27502967 No abstract available.

2

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Gitiaux C, Blin-Rochemaure N, Hully M, Echaniz-Laguna A, Calmels N, Bahi-Buisson N, Desguerre I, Dabaj I, Wehbi S, Quijano-Roy S, Laugel V. Gitiaux C, et al. Among authors: calmels n. Clin Neurophysiol. 2015 Jul;126(7):1435-9. doi: 10.1016/j.clinph.2014.10.014. Epub 2014 Oct 20. Clin Neurophysiol. 2015. PMID: 25453614

3

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.

4

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.

5

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Schalk A, Greff G, Drouot N, Obringer C, Dollfus H, Laugel V, Chelly J, Calmels N. Schalk A, et al. Among authors: calmels n. Eur J Hum Genet. 2018 Apr;26(4):527-536. doi: 10.1038/s41431-017-0009-y. Epub 2018 Feb 8. Eur J Hum Genet. 2018. PMID: 29422660 Free PMC article.

6

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann AR. Calmels N, et al. J Med Genet. 2018 May;55(5):329-343. doi: 10.1136/jmedgenet-2017-104877. Epub 2018 Mar 23. J Med Genet. 2018. PMID: 29572252

7

Renal disease in Cockayne syndrome.

Stern-Delfils A, Spitz MA, Durand M, Obringer C, Calmels N, Olagne J, Pillay K, Fieggen K, Laugel V, Zaloszyc A. Stern-Delfils A, et al. Among authors: calmels n. Eur J Med Genet. 2020 Jan;63(1):103612. doi: 10.1016/j.ejmg.2019.01.002. Epub 2019 Jan 7. Eur J Med Genet. 2020. PMID: 30630117

8

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Epanchintsev A, Rauschendorf MA, Costanzo F, Calmels N, Obringer C, Sarasin A, Coin F, Laugel V, Egly JM. Epanchintsev A, et al. Among authors: calmels n. Sci Rep. 2020 Jan 24;10(1):1105. doi: 10.1038/s41598-020-57999-4. Sci Rep. 2020. PMID: 31980658 Free PMC article.

9

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

10

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Baer S, Obringer C, Julia S, Chelly J, Capri Y, Gras D, Baujat G, Felix TM, Doray B, Sanchez Del Pozo J, Ramos LM, Burglen L, Laugel V, Calmels N. Baer S, et al. Among authors: calmels n. Clin Genet. 2020 Sep;98(3):251-260. doi: 10.1111/cge.13798. Epub 2020 Jul 28. Clin Genet. 2020. PMID: 32557569

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