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Did you mean nadin hanna (1 results)?
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
[Genetic of thoracic aorta aneurysm].
Cadenet M, Hanna N, Arnaud P. Cadenet M, et al. Among authors: hanna n. Ann Biol Clin (Paris). 2022 Jul 1;80(4):344-354. doi: 10.1684/abc.2022.1742. Ann Biol Clin (Paris). 2022. PMID: 36099351 Review. French.
Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants.
Arnaud P, Milleron O, Hanna N, Ropers J, Ould Ouali N, Affoune A, Langeois M, Eliahou L, Arnoult F, Renard P, Michelon-Jouneaux M, Cotillon M, Gouya L, Boileau C, Jondeau G. Arnaud P, et al. Among authors: hanna n. Genet Med. 2021 Jul;23(7):1296-1304. doi: 10.1038/s41436-021-01132-x. Epub 2021 Mar 17. Genet Med. 2021. PMID: 33731877 Free PMC article.
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.
Arnaud P, Morel H, Milleron O, Gouya L, Francannet C, Da Costa A, Le Goff C, Jondeau G, Boileau C, Hanna N. Arnaud P, et al. Among authors: hanna n. Genet Med. 2021 May;23(5):865-871. doi: 10.1038/s41436-020-01078-6. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495528 Free PMC article.
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M. Elbitar S, et al. Among authors: hanna n. Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28. Genet Med. 2021. PMID: 32855533 Free PMC article.
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S, Kuwahara H, Ewida N, Shamseldin HE, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif HS, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya FS. Maddirevula S, et al. Among authors: hanna n. Genome Biol. 2020 Jun 17;21(1):145. doi: 10.1186/s13059-020-02053-9. Genome Biol. 2020. PMID: 32552793 Free PMC article. Clinical Trial.
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Grange T, Aubart M, Langeois M, Benarroch L, Arnaud P, Milleron O, Eliahou L, Gross MS, Hanna N, Boileau C, Gouya L, Jondeau G. Grange T, et al. Among authors: hanna n. Genes (Basel). 2020 May 20;11(5):574. doi: 10.3390/genes11050574. Genes (Basel). 2020. PMID: 32443863 Free PMC article.
39 results