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A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Siavrienė E, Preikšaitienė E, Maldžienė Ž, Mikštienė V, Rančelis T, Ambrozaitytė L, Gueneau L, Reymond A, Kučinskas V. Siavrienė E, et al. Among authors: Gueneau L. Gene. 2020 Aug 30;753:144816. doi: 10.1016/j.gene.2020.144816. Epub 2020 May 27. Gene. 2020. PMID: 32473250
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
Pranckėnienė L, Siavrienė E, Gueneau L, Preikšaitienė E, Mikštienė V, Reymond A, Kučinskas V. Pranckėnienė L, et al. Among authors: Gueneau L. Mol Genet Genomic Med. 2019 Dec;7(12):e1006. doi: 10.1002/mgg3.1006. Epub 2019 Oct 19. Mol Genet Genomic Med. 2019. PMID: 31628733 Free PMC article.
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
Preiksaitiene E, Voisin N, Gueneau L, Benušienė E, Krasovskaja N, Blažytė EM, Ambrozaitytė L, Rančelis T, Reymond A, Kučinskas V. Preiksaitiene E, et al. Among authors: Gueneau L. Am J Med Genet A. 2020 Mar;182(3):536-542. doi: 10.1002/ajmg.a.61453. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833209
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
Cabet S, Putoux A, Buenerd A, Gueneau L, Reymond A, Thia EWH, Lai AHM, Schindewolf EM, Sanlaville D, Lesca G, Guibaud L. Cabet S, et al. Among authors: Gueneau L. Prenat Diagn. 2020 Jan;40(2):276-281. doi: 10.1002/pd.5589. Epub 2019 Dec 5. Prenat Diagn. 2020. PMID: 31736083 No abstract available.
FHL1 is a major host factor for chikungunya virus infection.
Meertens L, Hafirassou ML, Couderc T, Bonnet-Madin L, Kril V, Kümmerer BM, Labeau A, Brugier A, Simon-Loriere E, Burlaud-Gaillard J, Doyen C, Pezzi L, Goupil T, Rafasse S, Vidalain PO, Bertrand-Legout A, Gueneau L, Juntas-Morales R, Ben Yaou R, Bonne G, de Lamballerie X, Benkirane M, Roingeard P, Delaugerre C, Lecuit M, Amara A. Meertens L, et al. Among authors: Gueneau L. Nature. 2019 Oct;574(7777):259-263. doi: 10.1038/s41586-019-1578-4. Epub 2019 Sep 25. Nature. 2019. PMID: 31554973
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
Pranckėnienė L, Preikšaitienė E, Gueneau L, Reymond A, Kučinskas V. Pranckėnienė L, et al. Among authors: Gueneau L. Genomics Insights. 2019 Apr 2;12:1178631019839010. doi: 10.1177/1178631019839010. eCollection 2019. Genomics Insights. 2019. PMID: 31043788 Free PMC article.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A. Gueneau L, et al. Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290337 Free PMC article.
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A. Avila-Smirnow D, et al. Among authors: Gueneau L. Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Rev Neurol (Paris). 2016. PMID: 27633507 Review.
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T. Mosca-Boidron AL, et al. Among authors: Gueneau L. Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395558 Free PMC article.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Holger T, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nünberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C. Borck G, et al. Among authors: Gueneau L. Genome Res. 2015 Apr;25(4):609. Genome Res. 2015. PMID: 25834187 Free PMC article. No abstract available.
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