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Year Number of Results
1994 1
1995 2
1996 1
1997 5
1998 2
2000 5
2001 1
2002 4
2004 3
2005 6
2006 1
2007 6
2008 7
2009 5
2010 5
2011 3
2012 6
2013 2
2014 6
2015 6
2016 7
2017 6
2018 6
2019 9
2020 5
2021 6
2022 2
2023 5
2024 9
2025 1

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116 results

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Page 1
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E. Tessarech M, et al. Among authors: guichet a. Genet Med. 2024 May;26(5):101087. doi: 10.1016/j.gim.2024.101087. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288683 Free article.
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Milon V, Malinge MC, Blanluet M, Tessarech M, Battault C, Prestwich S, Vary B, Gueracher P, Legoff L, Barth M, Houdayer C, Guichet A, Rousseau A, Bonneau D, Procaccio V, Bris C, Colin E. Milon V, et al. Among authors: guichet a. Eur J Hum Genet. 2024 Dec;32(12):1590-1598. doi: 10.1038/s41431-024-01631-w. Epub 2024 May 28. Eur J Hum Genet. 2024. PMID: 38806662 Review.
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.
Elidrissi Errahhali M, Elidrissi Errahhali M, Ramdani S, Lhousni S, Benajiba N, Rkain M, Babakhouya A, Elouali A, Ghanam A, Amrani R, Messaoudi S, Ayyad A, Oneib B, Mimouni A, Saadi H, Allaoui S, Ouarzane M, Guichet A, Charif M, Boulouiz R, Bellaoui M. Elidrissi Errahhali M, et al. Among authors: guichet a. Arch Pediatr. 2024 Feb;31(2):112-116. doi: 10.1016/j.arcped.2023.10.002. Epub 2024 Jan 22. Arch Pediatr. 2024. PMID: 38262863
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N. Thauvin-Robinet C, et al. Among authors: guichet a. Prenat Diagn. 2024 Sep;44(10):1179-1197. doi: 10.1002/pd.6623. Epub 2024 Aug 13. Prenat Diagn. 2024. PMID: 39138116
Nucleus positioning within Drosophila egg chamber.
Bernard F, Lepesant JA, Guichet A. Bernard F, et al. Among authors: guichet a. Semin Cell Dev Biol. 2018 Oct;82:25-33. doi: 10.1016/j.semcdb.2017.10.013. Epub 2017 Oct 19. Semin Cell Dev Biol. 2018. PMID: 29056490 Review.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F, Delanne J, Denommé-Pichon AS, Safraou H, Bruel AL, Vitobello A, Garde A, Nambot S, Bourgon N, Racine C, Sorlin A, Moutton S, Marle N, Rousseau T, Sagot P, Simon E, Vincent-Delorme C, Boute O, Colson C, Petit F, Legendre M, Naudion S, Rooryck C, Prouteau C, Colin E, Guichet A, Ziegler A, Bonneau D, Morel G, Fradin M, Lavillaureix A, Quelin C, Pasquier L, Odent S, Vera G, Goldenberg A, Guerrot AM, Brehin AC, Putoux A, Attia J, Abel C, Blanchet P, Wells CF, Deiller C, Nizon M, Mercier S, Vincent M, Isidor B, Amiel J, Dard R, Godin M, Gruchy N, Jeanne M, Schaeffer E, Maillard PY, Payet F, Jacquemont ML, Francannet C, Sigaudy S, Bergot M, Tisserant E, Ascencio ML, Binquet C, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Tran Mau-Them F, et al. Among authors: guichet a. Front Genet. 2023 Mar 23;14:1099995. doi: 10.3389/fgene.2023.1099995. eCollection 2023. Front Genet. 2023. PMID: 37035737 Free PMC article.
Barth syndrome in a female patient.
Cosson L, Toutain A, Simard G, Kulik W, Matyas G, Guichet A, Blasco H, Maakaroun-Vermesse Z, Vaillant MC, Le Caignec C, Chantepie A, Labarthe F. Cosson L, et al. Among authors: guichet a. Mol Genet Metab. 2012 May;106(1):115-20. doi: 10.1016/j.ymgme.2012.01.015. Epub 2012 Jan 24. Mol Genet Metab. 2012. PMID: 22410210
116 results