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High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Stoupa A, Al Hage Chehade G, Chaabane R, Kariyawasam D, Szinnai G, Hanein S, Bole-Feysot C, Fourrage C, Nitschke P, Thalassinos C, Pinto G, Mnif M, Baron S, De Kerdanet M, Reynaud R, Barat P, Hachicha M, Belguith N, Polak M, Carré A. Stoupa A, et al. Among authors: barat p. Front Endocrinol (Lausanne). 2021 Feb 22;11:545339. doi: 10.3389/fendo.2020.545339. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33692749 Free PMC article.
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group. Busiah K, et al. Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6. Lancet Diabetes Endocrinol. 2013. PMID: 24622368
Growth patterns of patients with Noonan syndrome: correlation with age and genotype.
Cessans C, Ehlinger V, Arnaud C, Yart A, Capri Y, Barat P, Cammas B, Lacombe D, Coutant R, David A, Baron S, Weill J, Leheup B, Nicolino M, Salles JP, Verloes A, Tauber M, Cavé H, Edouard T. Cessans C, et al. Among authors: barat p. Eur J Endocrinol. 2016 May;174(5):641-50. doi: 10.1530/EJE-15-0922. Epub 2016 Feb 22. Eur J Endocrinol. 2016. PMID: 26903553
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
El Allali Y, Hermetet C, Bacchetta J, Amouroux C, Rothenbuhler A, Porquet-Bordes V, Champigny MA, Baron S, Barat P, Bony-Trifunovic H, Bourdet K, Busiah K, Cartigny-Maciejewski M, Compain F, Coutant R, Amsellem-Jager J, De Kerdanet M, Magontier N, Mignot B, Richard O, Rossignol S, Soskin S, Berot A, Naud-Saudreau C, Salles JP, Linglart A, Edouard T, Lienhardt-Roussie A. El Allali Y, et al. Among authors: barat p. Eur J Endocrinol. 2021 Feb;184(2):347-355. doi: 10.1530/EJE-20-1119. Eur J Endocrinol. 2021. PMID: 33361469
98 results