Simon D - Search Results

1

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C. Maimoun L, et al. Among authors: simon d. J Clin Endocrinol Metab. 2011 Feb;96(2):296-307. doi: 10.1210/jc.2010-1024. Epub 2010 Dec 8. J Clin Endocrinol Metab. 2011. PMID: 21147889

2

Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition.

Courtillot C, Baudoin R, Du Souich T, Saatdjian L, Tejedor I, Pinto G, Léger J, Polak M, Golmard JL, Touraine P; Transition GHD Group. Courtillot C, et al. Eur J Endocrinol. 2013 Oct 1;169(5):587-96. doi: 10.1530/EJE-13-0572. Print 2013 Nov. Eur J Endocrinol. 2013. PMID: 23939920

3

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

Simon D, Ba I, Mekhail N, Ecosse E, Paulsen A, Zenaty D, Houang M, Jesuran Perelroizen M, de Filippo GP, Salerno M, Simonin G, Reynaud R, Carel JC, Léger J, de Roux N. Simon D, et al. Eur J Endocrinol. 2016 Jan;174(1):1-8. doi: 10.1530/EJE-15-0488. Epub 2015 Oct 1. Eur J Endocrinol. 2016. PMID: 26431553

4

Central Diabetes Insipidus in Infancy With or Without Hypothalamic Adipsic Hypernatremia Syndrome: Early Identification and Outcome.

Djermane A, Elmaleh M, Simon D, Poidvin A, Carel JC, Léger J. Djermane A, et al. Among authors: simon d. J Clin Endocrinol Metab. 2016 Feb;101(2):635-43. doi: 10.1210/jc.2015-3108. Epub 2015 Nov 20. J Clin Endocrinol Metab. 2016. PMID: 26588450

5

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome.

Fiot E, Zenaty D, Boizeau P, Haigneré J, Dos Santos S, Léger J; French Turner Syndrome Study Group. Fiot E, et al. Eur J Endocrinol. 2016 Mar;174(3):281-8. doi: 10.1530/EJE-15-1000. Epub 2015 Dec 14. Eur J Endocrinol. 2016. PMID: 26744895

6

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.

Roucher-Boulez F, Mallet-Motak D, Samara-Boustani D, Jilani H, Ladjouze A, Souchon PF, Simon D, Nivot S, Heinrichs C, Ronze M, Bertagna X, Groisne L, Leheup B, Naud-Saudreau C, Blondin G, Lefevre C, Lemarchand L, Morel Y. Roucher-Boulez F, et al. Among authors: simon d. Eur J Endocrinol. 2016 Jul;175(1):73-84. doi: 10.1530/EJE-16-0056. Epub 2016 Apr 29. Eur J Endocrinol. 2016. PMID: 27129361 Free article.

7

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood.

Fiot E, Zénaty D, Boizeau P, Haignere J, Dos Santos S, Léger J; French Turner Syndrome Study Group. Fiot E, et al. Eur J Endocrinol. 2019 Jun 1;180(6):397-406. doi: 10.1530/EJE-18-0878. Eur J Endocrinol. 2019. PMID: 30991358

8

SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.

Lambert S, Peycelon M, Samara-Boustani D, Hyon C, Dumeige L, Peuchmaur M, Fiot E, Léger J, Simon D, Paye-Jaouen A, Bouligand J, Siffroi JP, Carel JC, McElreavey K, El Ghoneimi A, Brachet C, Bouvattier C, Martinerie L. Lambert S, et al. Among authors: simon d. Clin Endocrinol (Oxf). 2021 Apr;94(4):667-676. doi: 10.1111/cen.14389. Epub 2020 Dec 26. Clin Endocrinol (Oxf). 2021. PMID: 33296530

9

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

Mullis PE, Robinson IC, Salemi S, Eblé A, Besson A, Vuissoz JM, Deladoey J, Simon D, Czernichow P, Binder G. Mullis PE, et al. Among authors: simon d. J Clin Endocrinol Metab. 2005 Apr;90(4):2089-96. doi: 10.1210/jc.2004-1280. Epub 2005 Jan 25. J Clin Endocrinol Metab. 2005. PMID: 15671105

10

Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia.

Simon D, Hadjiathanasiou C, Garel C, Czernichow P, Léger J. Simon D, et al. Clin Endocrinol (Oxf). 2006 Apr;64(4):416-22. doi: 10.1111/j.1365-2265.2006.02484.x. Clin Endocrinol (Oxf). 2006. PMID: 16584514

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