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Page 1
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, Delobel B, Smol T, Thuillier C, Zordan C, Naudion S, Bienvenu T, Touraine R, Ramond F, Zweier C, Reis A, Kraus C, Nizon M, Cogné B, Verloes A, Tran Mau-Them F, Sorlin A, Jouan T, Duffourd Y, Tisserant E, Philippe C, Vitobello A, Thevenon J, Faivre L, Thauvin-Robinet C. Carmignac V, et al. Among authors: zordan c. Clin Genet. 2020 Jul;98(1):43-55. doi: 10.1111/cge.13755. Epub 2020 May 29. Clin Genet. 2020. PMID: 32279304
The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.
Hinzpeter A, Reboul MP, Callebaut I, Zordan C, Costes B, Guichoux J, Iron A, Lacombe D, Martin N, Arveiler B, Fanen P, Fergelot P, Girodon E. Hinzpeter A, et al. Among authors: zordan c. Clin Case Rep. 2017 Mar 30;5(5):658-663. doi: 10.1002/ccr3.760. eCollection 2017 May. Clin Case Rep. 2017. PMID: 28469871 Free PMC article.
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B. Louvrier C, et al. Among authors: zordan c. Neuro Oncol. 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009. Neuro Oncol. 2018. PMID: 29409008 Free PMC article.
Coexistence of schwannomatosis and glioblastoma in two families.
Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C. Deiller C, et al. Among authors: zordan c. Eur J Med Genet. 2019 Aug;62(8):103680. doi: 10.1016/j.ejmg.2019.103680. Epub 2019 May 22. Eur J Med Genet. 2019. PMID: 31128261
[Legal aspects of genetic testing for diagnostic purposes in France].
Zordan C, Dorian V, Jameau L, Goizet C. Zordan C, et al. Med Sci (Paris). 2018 Nov;34 Hors série n°2:13-15. doi: 10.1051/medsci/201834s204. Epub 2018 Nov 12. Med Sci (Paris). 2018. PMID: 30418138 Free article. French. No abstract available.
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabières C, Guissart C. Cayrefourcq L, et al. Among authors: zordan c. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9. Sci Rep. 2020. PMID: 32555262 Free PMC article.
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossée M, Koenig M, Alix-Panabière C, Guissart C, Vincent MC. Liautard-Haag C, et al. Among authors: zordan c. Sci Rep. 2022 Jul 6;12(1):11423. doi: 10.1038/s41598-022-15307-2. Sci Rep. 2022. PMID: 35794169 Free PMC article.
Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome.
Hascoet S, Edouard T, Plaisancie J, Arnoult F, Milleron O, Stheneur C, Chevallier B, Zordan C, Odent S, Bal L, Faivre L, Leheup B, Dupuis-Girod S, Ruidavets JB, Acar P, Ferrieres J, Jondeau G, Dulac Y. Hascoet S, et al. Among authors: zordan c. Arch Cardiovasc Dis. 2020 Jan;113(1):40-49. doi: 10.1016/j.acvd.2019.09.010. Epub 2019 Nov 14. Arch Cardiovasc Dis. 2020. PMID: 31735609 Free article.
22 results