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Correction to: Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism by Dufort G, Larrivee-Vanier S, Eugene D, De Deken X, Seebauer B, Heinimann K, Levesque S, Gravel S, Szinnai G, Van Vliet G, and Deladoey J. Thyroid 2019;29:1018-1022.
[No authors listed] [No authors listed] Thyroid. 2019 Sep;29(9):1347. doi: 10.1089/thy.2018.0461.correx. Thyroid. 2019. PMID: 31532729 Free PMC article. No abstract available.
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.
Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group. Léger J, et al. J Clin Endocrinol Metab. 2014 Feb;99(2):363-84. doi: 10.1210/jc.2013-1891. Epub 2014 Jan 21. J Clin Endocrinol Metab. 2014. PMID: 24446653 Free PMC article.
Sexual disparity of copeptin in healthy newborn infants.
Burckhardt MA, Wellmann M, Fouzas S, Lapaire O, Burkhardt T, Benzing J, Bührer C, Szinnai G, Wellmann S. Burckhardt MA, et al. J Clin Endocrinol Metab. 2014 Sep;99(9):E1750-3. doi: 10.1210/jc.2014-2244. Epub 2014 Jul 8. J Clin Endocrinol Metab. 2014. PMID: 25004250
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.
Bösch F, Landolt MA, Baumgartner MR, Fernandez S, Forny P, Gautschi M, Grünert SC, Häberle J, Horvath C, Karall D, Lampis D, Rohrbach M, Scholl-Bürgi S, Szinnai G, Huemer M. Bösch F, et al. Mol Genet Metab Rep. 2022 May 6;31:100876. doi: 10.1016/j.ymgmr.2022.100876. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35762020 Free PMC article.
BACKGROUND: Living with a non-acute (phenylketonuria) or acute (e.g. urea cycle disorders, organic acidurias) intoxication-type inborn error of metabolism (IT-IEM) can have a substantial impact on health-related quality of life (HrQoL) of paediatric patients and their fami …
BACKGROUND: Living with a non-acute (phenylketonuria) or acute (e.g. urea cycle disorders, organic acidurias) intoxication-type inbor …
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. 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
We identified three new heterozygous missense mutations (L176V, P202L, Q210P), a splice site mutation (376-2A-->G), and one deletion of NKX2-1 at 14q13. Functional analysis of the three missense mutations revealed loss of transactivation capacity on the human thyroglobu …
We identified three new heterozygous missense mutations (L176V, P202L, Q210P), a splice site mutation (376-2A-->G), and one deleti …
Pregnancy and pregnancy outcomes after hematopoietic stem cell transplantation in childhood: a cross-sectional survey of the EBMT Pediatric Diseases Working Party.
Diesch-Furlanetto T, Rovó A, Galimard JE, Szinnai G, Dalissier A, Sedlacek P, Bodova I, Roussou VK, Gibson BE, Poiré X, Fagioli F, Pichler H, Faraci M, Gumy-Pause FG, Dalle JH, Balduzzi A, Bader P, Corbacioglu S. Diesch-Furlanetto T, et al. Hum Reprod. 2021 Oct 18;36(11):2871-2882. doi: 10.1093/humrep/deab199. Hum Reprod. 2021. PMID: 34529796