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Page 1
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.
Guguin J, Chen TY, Cuinat S, Besson A, Bertiaux E, Boutaud L, Ardito N, Imaz Murguiondo M, Cabet S, Hamel V, Thomas S, Pain B, Edery P, Putoux A, Tang TK, Mazoyer S, Delous M. Guguin J, et al. Among authors: boutaud l. PLoS Genet. 2024 Dec 16;20(12):e1011517. doi: 10.1371/journal.pgen.1011517. eCollection 2024 Dec. PLoS Genet. 2024. PMID: 39680576 Free PMC article.
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
Pannier E, Sekri A, Roux N, Vasiljevic A, El Khattabi L, Chatron N, Grotto S, Menzella D, Grangé G, Thébault F, Massardier J, Fourrage C, Lohmann L, Tsatsaris V, Putoux A, Boutaud L, Attié-Bitach T. Pannier E, et al. Among authors: boutaud l. Birth Defects Res. 2024 Jul;116(7):e2380. doi: 10.1002/bdr2.2380. Birth Defects Res. 2024. PMID: 38980211
Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.
Hennocq Q, Garcelon N, Bongibault T, Bouygues T, Marlin S, Amiel J, Boutaud L, Douillet M, Lyonnet S, Pingault V, Picard A, Rio M, Attie-Bitach T, Khonsari RH, Roux N. Hennocq Q, et al. Among authors: boutaud l. Prenat Diagn. 2024 Sep;44(10):1150-1158. doi: 10.1002/pd.6577. Epub 2024 Apr 18. Prenat Diagn. 2024. PMID: 38635411
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Nicolle R, Boutaud L, Loeuillet L, Talhi N, Grotto S, Bourgon N, Feresin A, Coussement A, Barrois M, Beaujard MP, Rambaud T, Razavi F, Attié-Bitach T. Nicolle R, et al. Among authors: boutaud l. Eur J Hum Genet. 2024 May;32(5):545-549. doi: 10.1038/s41431-024-01558-2. Epub 2024 Feb 13. Eur J Hum Genet. 2024. PMID: 38351293
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Heide S, Argilli E, Valence S, Boutaud L, Roux N, Mignot C, Nava C, Keren B, Giraudat K, Faudet A, Gerasimenko A, Garel C, Blondiaux E, Rastetter A, Grevent D, Le C, Mackenzie L, Richards L, Attié-Bitach T, Depienne C, Sherr E, Héron D. Heide S, et al. Among authors: boutaud l. J Med Genet. 2024 Feb 21;61(3):244-249. doi: 10.1136/jmg-2023-109293. J Med Genet. 2024. PMID: 37857482
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: boutaud l. Front Pediatr. 2023 Aug 17;11:1171277. doi: 10.3389/fped.2023.1171277. eCollection 2023. Front Pediatr. 2023. PMID: 37664547 Free PMC article.
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A, Roux N, Boutaud L, Lunel E, Hakkakian L, Parisot M, Garfa-Traoré M, Ichkou A, Elkhartoufi N, Bole C, Nitschke P, Amiel J, Martinovic J, Encha-Razavi F, Attié-Bitach T, Thomas S. Tessier A, et al. Among authors: boutaud l. Acta Neuropathol Commun. 2023 Feb 20;11(1):29. doi: 10.1186/s40478-023-01519-8. Acta Neuropathol Commun. 2023. PMID: 36803301 Free PMC article.
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Boutaud L, Ruzzenente B, Tessier A, Anselem O, Pannier E, Grotto S, Talhi N, Amram D, Willems M, Wells C, Blanchet P, Musizzano Y, Jauny C, Nitschke P, Bole-Feysot C, Bessières B, Salhi H, Achaiaa A, Metodiev MD, Razavi F, Rötig A, Loeuilllet L, Attié-Bitach T. Boutaud L, et al. Brain. 2023 May 2;146(5):1804-1811. doi: 10.1093/brain/awac417. Brain. 2023. PMID: 36349561
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T; Clinical Contributors; Cormier-Daire V. Aubert-Mucca M, et al. Among authors: boutaud l. J Med Genet. 2023 Apr;60(4):337-345. doi: 10.1136/jmg-2022-108435. Epub 2022 Aug 4. J Med Genet. 2023. PMID: 35927022
33 results