Tron E - Search Results

1

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

Guillot L, Carré A, Szinnai G, Castanet M, Tron E, Jaubert F, Broutin I, Counil F, Feldmann D, Clement A, Polak M, Epaud R. Guillot L, et al. Among authors: tron e. Hum Mutat. 2010 Feb;31(2):E1146-62. doi: 10.1002/humu.21183. Hum Mutat. 2010. PMID: 20020530

2

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M. Carré A, et al. Among authors: tron e. Hum Mol Genet. 2009 Jun 15;18(12):2266-76. doi: 10.1093/hmg/ddp162. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336474

3

Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development.

Carre A, Rachdi L, Tron E, Richard B, Castanet M, Schlumberger M, Bidart JM, Szinnai G, Polak M. Carre A, et al. Among authors: tron e. PLoS One. 2011 Feb 25;6(2):e16752. doi: 10.1371/journal.pone.0016752. PLoS One. 2011. PMID: 21364918 Free PMC article.

4

A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.

Carré A, Hamza RT, Kariyawasam D, Guillot L, Teissier R, Tron E, Castanet M, Dupuy C, El Kholy M, Polak M. Carré A, et al. Among authors: tron e. Thyroid. 2014 Apr;24(4):649-54. doi: 10.1089/thy.2013.0417. Epub 2014 Jan 23. Thyroid. 2014. PMID: 24219130 Free PMC article.

5

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

Ramos HE, Morandini M, Carré A, Tron E, Floch C, Mandelbrot L, Neri N, De Sarcus B, Simon A, Bonnefont JP, Amiel J, Desguerre I, Valayannopoulos V, Castanet M, Polak M. Ramos HE, et al. Among authors: tron e. Eur J Endocrinol. 2011 Feb;164(2):309-14. doi: 10.1530/EJE-10-0679. Epub 2010 Nov 23. Eur J Endocrinol. 2011. PMID: 21098685

6

Molecular insights into the possible role of Kir4.1 and Kir5.1 in thyroid hormone biosynthesis.

Ramos HE, da Silva MR, Carré A, Silva JC Jr, Paninka RM, Oliveira TL, Tron E, Castanet M, Polak M. Ramos HE, et al. Among authors: tron e. Horm Res Paediatr. 2015;83(2):141-7. doi: 10.1159/000369251. Epub 2015 Jan 22. Horm Res Paediatr. 2015. PMID: 25612510

7

New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening.

Ramos HE, Labedan I, Carré A, Castanet M, Guemas I, Tron E, Madhi F, Delacourt C, Maciel RM, Polak M. Ramos HE, et al. Among authors: tron e. Thyroid. 2010 Jun;20(6):639-45. doi: 10.1089/thy.2009.0462. Thyroid. 2010. PMID: 20553196

8

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

Ramos HE, Carré A, Chevrier L, Szinnai G, Tron E, Cerqueira TL, Léger J, Cabrol S, Puel O, Queinnec C, De Roux N, Guillot L, Castanet M, Polak M. Ramos HE, et al. Among authors: tron e. Eur J Endocrinol. 2014 Oct;171(4):499-507. doi: 10.1530/EJE-13-1006. Eur J Endocrinol. 2014. PMID: 25214233

9

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.

Cerqueira TL, Carré A, Chevrier L, Szinnai G, Tron E, Léger J, Cabrol S, Queinnec C, De Roux N, Castanet M, Polak M, Ramos HE. Cerqueira TL, et al. Among authors: tron e. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):777-84. doi: 10.1515/jpem-2014-0194. J Pediatr Endocrinol Metab. 2015. PMID: 25153578

10

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.

Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A. Lacroix M, et al. Among authors: tron e. J Invest Dermatol. 2012 Mar;132(3 Pt 1):575-82. doi: 10.1038/jid.2011.366. Epub 2011 Nov 17. J Invest Dermatol. 2012. PMID: 22089833 Free article.

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