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Page 1
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B. Louvrier C, et al. Among authors: orhant l. Neuro Oncol. 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009. Neuro Oncol. 2018. PMID: 29409008 Free PMC article.
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M. Nectoux J, et al. Among authors: orhant l. Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29. Eur J Hum Genet. 2015. PMID: 25351777 Free PMC article.
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, Tafuri G, Letourneur F, Goffinet F, Allach El Khattabi L, Leturcq F, Bienvenu T, Tsatsaris V, Nectoux J. Orhant L, et al. Prenat Diagn. 2016 May;36(5):397-406. doi: 10.1002/pd.4790. Epub 2016 Apr 7. Prenat Diagn. 2016. PMID: 26850935 Free article.
Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma.
Garinet S, Nectoux J, Neou M, Pasmant E, Jouinot A, Sibony M, Orhant L, Pipoli da Fonseca J, Perlemoine K, Bricaire L, Groussin L, Soubrane O, Dousset B, Libe R, Letourneur F, Bertherat J, Assié G. Garinet S, et al. Among authors: orhant l. Endocr Relat Cancer. 2018 Mar;25(3):L13-L17. doi: 10.1530/ERC-17-0467. Epub 2017 Dec 6. Endocr Relat Cancer. 2018. PMID: 29212777 No abstract available.
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, Girodon E, Vidaud D, Leturcq F, Costa C, Letourneur F, Anselem O, Tsatsaris V, Goffinet F, Viot G, Vidaud M, Nectoux J. Gruber A, et al. Among authors: orhant l. Clin Chem Lab Med. 2018 Apr 25;56(5):728-738. doi: 10.1515/cclm-2017-0689. Clin Chem Lab Med. 2018. PMID: 29613853
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Pacot L, Pelletier V, Chansavang A, Briand-Suleau A, Burin des Roziers C, Coustier A, Maillard T, Vaucouleur N, Orhant L, Barbance C, Lermine A, Hamzaoui N, Hadjadj D, Laurendeau I, El Khattabi L, Nectoux J, Vidaud M, Parfait B, Dollfus H, Pasmant E, Vidaud D. Pacot L, et al. Among authors: orhant l. Hum Genet. 2023 Jan;142(1):1-9. doi: 10.1007/s00439-022-02476-3. Epub 2022 Aug 9. Hum Genet. 2023. PMID: 35941319
15 results