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Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Clin Genet. 2020 Dec;98(6):620-621. doi: 10.1111/cge.13840. Epub 2020 Sep 14.
Clin Genet. 2020.
PMID: 32926417
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian L, Magnin E, Bôle-Feysot C, Masson C, Ville Y, Roth P, Prieur F, Bessieres B, Bonniere M, Attie-Bitach T.
Billon C, et al. Among authors: achaiaa a.
Clin Genet. 2020 Sep;98(3):261-273. doi: 10.1111/cge.13801. Epub 2020 Aug 4.
Clin Genet. 2020.
PMID: 32621347
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Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.
Darcha C, Laffargue F, Boutaud L, Gallot D, Dauphin C, Garcier JM, Achaiaa A, Nitschke P, Fourrage C, Goumy C, Attie-Bitach T.
Darcha C, et al. Among authors: achaiaa a.
Clin Genet. 2021 Sep;100(3):348-349. doi: 10.1111/cge.13996. Epub 2021 Jun 11.
Clin Genet. 2021.
PMID: 34114225
No abstract available.
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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, Verloes A, Attie-Bitach T.
Ruaud L, et al. Among authors: achaiaa a.
Birth Defects Res. 2022 Jun;114(10):499-504. doi: 10.1002/bdr2.2011. Epub 2022 Apr 15.
Birth Defects Res. 2022.
PMID: 35426486
Review.
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Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T.
El Mouatani A, et al. Among authors: achaiaa a.
Am J Med Genet A. 2021 Dec;185(12):3831-3837. doi: 10.1002/ajmg.a.62426. Epub 2021 Jul 23.
Am J Med Genet A. 2021.
PMID: 34296525
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Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Cogan G, Bourgon N, Borghese R, Julien E, Jaquette A, Stos B, Achaiaa A, Chuon S, Nitschke P, Fourrage C, Stirnemann J, Boutaud L, Attie-Bitach T.
Cogan G, et al. Among authors: achaiaa a.
Mol Genet Genomic Med. 2023 Sep;11(9):e2219. doi: 10.1002/mgg3.2219. Epub 2023 Jun 23.
Mol Genet Genomic Med. 2023.
PMID: 37353886
Free PMC article.
Review.
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Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C, Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A, Dupont JM, Malan V, Spaggiari E, Razavi F, Amiel J, Bessières B, Grotto S, Attié-Bitach T.
Lajmi Y, et al. Among authors: achaiaa a.
Birth Defects Res. 2023 Mar 15;115(5):563-571. doi: 10.1002/bdr2.2141. Epub 2022 Dec 20.
Birth Defects Res. 2023.
PMID: 36538874
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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. Among authors: achaiaa a.
Brain. 2023 May 2;146(5):1804-1811. doi: 10.1093/brain/awac417.
Brain. 2023.
PMID: 36349561
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