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Page 1
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savaş Erdeve Ş, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Şıklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M. Cohen E, et al. Among authors: thalassinos c. Hum Mutat. 2019 Nov;40(11):2033-2043. doi: 10.1002/humu.23847. Epub 2019 Aug 6. Hum Mutat. 2019. PMID: 31231873
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V. Michot C, et al. Among authors: thalassinos c. Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464250 Free PMC article.
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.
Flechtner I, Lambot-Juhan K, Teissier R, Colmenares A, Baujat G, Beltrand J, Ajaltouni Z, Pauwels C, Pinto G, Samara-Boustani D, Simon A, Thalassinos C, Le Merrer M, Cormier-Daire V, Polak M. Flechtner I, et al. Among authors: thalassinos c. Eur J Endocrinol. 2014 Apr 10;170(5):677-84. doi: 10.1530/EJE-13-0864. Print 2014 May. Eur J Endocrinol. 2014. PMID: 24536087
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: thalassinos c. 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.
Identifying patient-related predictors of permanent growth hormone deficiency.
Mericq V, Iñiguez G, Pinto G, Gonzalez-Briceño LG, Samara-Boustani D, Thalassinos C, Flechtner I, Stoupa A, Beltrand J, Besançon A, Brabant S, Ghazal K, Leban M, Touraine P, Cavada G, Polak M, Kariyawasam D. Mericq V, et al. Among authors: thalassinos c. Front Endocrinol (Lausanne). 2023 Oct 10;14:1270845. doi: 10.3389/fendo.2023.1270845. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37881494 Free PMC article.
Markers of recurrence and long-term morbidity in craniopharyngioma: a systematic analysis of 171 patients.
Gautier A, Godbout A, Grosheny C, Tejedor I, Coudert M, Courtillot C, Jublanc C, De Kerdanet M, Poirier JY, Riffaud L, Sainte-Rose C, Van Effenterre R, Brassier G, Bonnet F, Touraine P; Craniopharyngioma Study Group. Gautier A, et al. J Clin Endocrinol Metab. 2012 Apr;97(4):1258-67. doi: 10.1210/jc.2011-2817. Epub 2012 Feb 8. J Clin Endocrinol Metab. 2012. PMID: 22319039 Free article.
Childhood craniopharyngioma: hypothalamus-sparing surgery decreases the risk of obesity.
Elowe-Gruau E, Beltrand J, Brauner R, Pinto G, Samara-Boustani D, Thalassinos C, Busiah K, Laborde K, Boddaert N, Zerah M, Alapetite C, Grill J, Touraine P, Sainte-Rose C, Polak M, Puget S. Elowe-Gruau E, et al. Among authors: thalassinos c. J Clin Endocrinol Metab. 2013 Jun;98(6):2376-82. doi: 10.1210/jc.2012-3928. Epub 2013 Apr 30. J Clin Endocrinol Metab. 2013. PMID: 23633208
22 results