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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, de Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Guéant JL, Namour F. Jeannesson-Thivisol E, et al. Among authors: wagner k. Orphanet J Rare Dis. 2015 Dec 15;10:158. doi: 10.1186/s13023-015-0375-x. Orphanet J Rare Dis. 2015. PMID: 26666653 Free PMC article.
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
Oussalah A, Jeannesson-Thivisol E, Chéry C, Perrin P, Rouyer P, Josse T, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, De Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Rodriguez-Guéant RM, Feillet F, Guéant JL, Namour F. Oussalah A, et al. Among authors: wagner k. EBioMedicine. 2020 Jan;51:102623. doi: 10.1016/j.ebiom.2019.102623. Epub 2020 Jan 7. EBioMedicine. 2020. PMID: 31923802 Free PMC article.
Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 Families.
Ollivier M, Paris F, Philibert P, Garnier S, Coffy A, Fauconnet-Servant N, Haddad M, Guys JM, Reynaud R, Faure A, Merrot T, Wagner K, Bréaud J, Valla JS, Dobremez E, Gaspari L, Daures JP, Sultan C, Kalfa N. Ollivier M, et al. Among authors: wagner k. J Urol. 2018 Oct;200(4):890-894. doi: 10.1016/j.juro.2018.04.072. Epub 2018 Apr 30. J Urol. 2018. PMID: 29723568
Is Hypospadias Associated with Prenatal Exposure to Endocrine Disruptors? A French Collaborative Controlled Study of a Cohort of 300 Consecutive Children Without Genetic Defect.
Kalfa N, Paris F, Philibert P, Orsini M, Broussous S, Fauconnet-Servant N, Audran F, Gaspari L, Lehors H, Haddad M, Guys JM, Reynaud R, Alessandrini P, Merrot T, Wagner K, Kurzenne JY, Bastiani F, Bréaud J, Valla JS, Lacombe GM, Dobremez E, Zahhaf A, Daures JP, Sultan C. Kalfa N, et al. Among authors: wagner k. Eur Urol. 2015 Dec;68(6):1023-30. doi: 10.1016/j.eururo.2015.05.008. Epub 2015 May 23. Eur Urol. 2015. PMID: 26007639
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.
Kalfa N, Philibert P, Werner R, Audran F, Bashamboo A, Lehors H, Haddad M, Guys JM, Reynaud R, Alessandrini P, Wagner K, Kurzenne JY, Bastiani F, Bréaud J, Valla JS, Lacombe GM, Orsini M, Daures JP, Hiort O, Paris F, McElreavey K, Sultan C. Kalfa N, et al. Among authors: wagner k. PLoS One. 2013 Apr 30;8(4):e61824. doi: 10.1371/journal.pone.0061824. Print 2013. PLoS One. 2013. PMID: 23637914 Free PMC article.
3,089 results