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Page 1
Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Naudion S, et al. Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29. Clin Genet. 2016. PMID: 26404489
[Placental mesenchymal dysplasia].
Allias F, Lebreton F, Collardeau-Frachon S, Vasiljevic A, Rossignol S, Massardier J, Huissoud C, Devouassoux-Shisheboran M. Allias F, et al. Ann Pathol. 2008 Apr;28(2):85-94. doi: 10.1016/j.annpat.2008.03.005. Epub 2008 Jul 2. Ann Pathol. 2008. PMID: 18675158 French.
Prenatal diagnosis of osteopathia striata with cranial sclerosis.
Vasiljevic A, Azzi C, Lacalm A, Combourieu D, Collardeau-Frachon S, Dijoud F, Massardier J, Van Hul W, Fromageoux C, Guibaud L, Gaucherand P, Cordier MP, Massoud M. Vasiljevic A, et al. Prenat Diagn. 2015 Mar;35(3):302-4. doi: 10.1002/pd.4513. Epub 2014 Nov 26. Prenat Diagn. 2015. PMID: 25284440 No abstract available.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, Cordier MP, Capri Y, Khung-Savatovsky S, Sigaudy S, Salomon R, Antignac C, Gubler MC, Benmerah A, Terzi F, Attié-Bitach T, Jeanpierre C, Saunier S. Grampa V, et al. PLoS Genet. 2016 Mar 11;12(3):e1005894. doi: 10.1371/journal.pgen.1005894. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 26967905 Free PMC article.
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Duval H, Michel-Calemard L, Gonzales M, Loget P, Beneteau C, Buenerd A, Joubert M, Denis-Musquer M, Clemenson A, Chesnais AL, Blesson S, De Pinieux I, Delezoide AL, Bonyhay G, Bellanné-Chantelot C, Heidet L, Dupré F, Collardeau-Frachon S. Duval H, et al. Prenat Diagn. 2016 Aug;36(8):744-51. doi: 10.1002/pd.4858. Epub 2016 Jul 6. Prenat Diagn. 2016. PMID: 27297286 Free article.
91 results