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117 results

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Page 1
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Nguyen K, Puppo F, Roche S, Gaillard MC, Chaix C, Lagarde A, Pierret M, Vovan C, Olschwang S, Salort-Campana E, Attarian S, Bartoli M, Bernard R, Magdinier F, Levy N. Nguyen K, et al. Among authors: lagarde a. Hum Mutat. 2017 Oct;38(10):1432-1441. doi: 10.1002/humu.23304. Epub 2017 Aug 6. Hum Mutat. 2017. PMID: 28744936 Free article.
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Roche S, Dion C, Broucqsault N, Laberthonnière C, Gaillard MC, Robin JD, Lagarde A, Puppo F, Vovan C, Chaix C, Campana ES, Attarian S, Bartoli M, Bernard R, Nguyen K, Magdinier F. Roche S, et al. Among authors: lagarde a. Neurol Genet. 2019 Nov 14;5(6):e372. doi: 10.1212/NXG.0000000000000372. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872053 Free PMC article.
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, Krahn M, Campana-Salort E, Pouget J. Sevy A, et al. Among authors: lagarde a. J Neurol Neurosurg Psychiatry. 2016 Mar;87(3):340-2. doi: 10.1136/jnnp-2014-309663. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783436 No abstract available.
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E, Chioukh FZ, Olschwang S, Desvignes JP, Abdelhak S, Delague V, Lévy N, Monastiri K, De Sandre-Giovannoli A. Ghedira N, et al. Among authors: lagarde a. BMC Pediatr. 2018 Aug 29;18(1):286. doi: 10.1186/s12887-018-1259-8. BMC Pediatr. 2018. PMID: 30157809 Free PMC article.
[OISO, automatic treatment of patients management in oncogenetics].
Guien C, Fabre A, Lagarde A, Salgado D, Gensollen-Thiriez C, Zattara H, Beroud C, Olschwang S. Guien C, et al. Among authors: lagarde a. Bull Cancer. 2017 Jul-Aug;104(7-8):602-607. doi: 10.1016/j.bulcan.2017.06.003. Epub 2017 Jul 8. Bull Cancer. 2017. PMID: 28689638 Free article. French.
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.
Charfeddine C, Dallali H, Abdessalem G, Ghedira K, Hamdi Y, Elouej S, Landoulsi Z, Delague V, Lagarde A, Levy N, El-Amraoui A, Boubaker MS, Abdelhak S, Mokni M. Charfeddine C, et al. Among authors: lagarde a. J Hum Genet. 2020 Apr;65(4):397-410. doi: 10.1038/s10038-019-0711-4. Epub 2020 Jan 7. J Hum Genet. 2020. PMID: 31911611 Free article. Clinical Trial.
Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue.
Laquière AE, Lagarde A, Napoléon B, Bourdariat R, Atkinson A, Donatelli G, Pol B, Lecomte L, Curel L, Urena-Campos R, Helbert T, Valantin V, Mithieux F, Buono JP, Grandval P, Olschwang S. Laquière AE, et al. Among authors: lagarde a. World J Gastroenterol. 2019 Sep 28;25(36):5530-5542. doi: 10.3748/wjg.v25.i36.5530. World J Gastroenterol. 2019. PMID: 31576098 Free PMC article. Clinical Trial.
High frequency of chromosome 14 deletion in early-onset colon cancer.
Mourra N, Zeitoun G, Buecher B, Finetti P, Lagarde A, Adelaide J, Birnbaum D, Thomas G, Olschwang S. Mourra N, et al. Among authors: lagarde a. Dis Colon Rectum. 2007 Nov;50(11):1881-6. doi: 10.1007/s10350-007-9040-3. Epub 2007 Aug 29. Dis Colon Rectum. 2007. PMID: 17726634
117 results