Morel Y - Search Results

1

In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants.

Bertrand-Delepine J, Manouvrier-Hanu S, Cartigny M, Paris F, Mallet D, Philibert P, Morel Y, Lefevre C, Dewailly D, Catteau-Jonard S. Bertrand-Delepine J, et al. Among authors: morel y. Reprod Biomed Online. 2020 Jan;40(1):151-159. doi: 10.1016/j.rbmo.2019.10.002. Epub 2019 Oct 10. Reprod Biomed Online. 2020. PMID: 31831369

2

Genetic of gonadal determination.

Morel Y, Roucher F, Mallet D, Plotton I. Morel Y, et al. Ann Endocrinol (Paris). 2014 May;75(2):32-9. doi: 10.1016/j.ando.2014.04.005. Epub 2014 Apr 29. Ann Endocrinol (Paris). 2014. PMID: 24793987 Review.

3

Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.

Mallet D, Bretones P, Michel-Calemard L, Dijoud F, David M, Morel Y. Mallet D, et al. Among authors: morel y. J Clin Endocrinol Metab. 2004 Oct;89(10):4829-32. doi: 10.1210/jc.2004-0670. J Clin Endocrinol Metab. 2004. PMID: 15472171

4

Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency".

Roucher-Boulez F, Goursaud C, Mallet D, Morel Y. Roucher-Boulez F, et al. Among authors: morel y. J Clin Endocrinol Metab. 2019 May 1;104(5):1413-1414. doi: 10.1210/jc.2018-02415. J Clin Endocrinol Metab. 2019. PMID: 30500894 No abstract available.

5

[Genetic anomalies of the androgen receptor and sexual ambiguity with normal testicular function at birth].

Morel Y, Michel-Calemard L, Mallet D. Morel Y, et al. Ann Endocrinol (Paris). 2005 Jun;66(3):217-24. doi: 10.1016/s0003-4266(05)81753-6. Ann Endocrinol (Paris). 2005. PMID: 15988382 Review. French. No abstract available.

6

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

Parween S, Roucher-Boulez F, Flück CE, Lienhardt-Roussie A, Mallet D, Morel Y, Pandey AV. Parween S, et al. Among authors: morel y. J Clin Endocrinol Metab. 2016 Dec;101(12):4789-4798. doi: 10.1210/jc.2016-1928. Epub 2016 Sep 7. J Clin Endocrinol Metab. 2016. PMID: 27603900

7

Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder.

Roucher-Boulez F, Mallet D, Chatron N, Dijoud F, Gorduza DB, Bretones P, Morel Y. Roucher-Boulez F, et al. Among authors: morel y. Front Endocrinol (Lausanne). 2019 Sep 11;10:625. doi: 10.3389/fendo.2019.00625. eCollection 2019. Front Endocrinol (Lausanne). 2019. PMID: 31572304 Free PMC article.

8

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia.

Paris F, Gaspari L, Mbou F, Philibert P, Audran F, Morel Y, Biason-Lauber A, Sultan C. Paris F, et al. Among authors: morel y. Andrology. 2016 Mar;4(2):263-9. doi: 10.1111/andr.12145. Epub 2016 Feb 4. Andrology. 2016. PMID: 26845730 Free article.

9

Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.

Coutant R, Mallet D, Lahlou N, Bouhours-Nouet N, Guichet A, Coupris L, Croué A, Morel Y. Coutant R, et al. Among authors: morel y. J Clin Endocrinol Metab. 2007 Aug;92(8):2868-73. doi: 10.1210/jc.2007-0024. Epub 2007 May 8. J Clin Endocrinol Metab. 2007. PMID: 17488792

10

A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.

Guenego A, Morel Y, Ionesco O, Mallet D, Priou-Guesdon M. Guenego A, et al. Among authors: morel y. Ann Endocrinol (Paris). 2015 Feb;76(1):71-4. doi: 10.1016/j.ando.2014.11.003. Epub 2015 Jan 19. Ann Endocrinol (Paris). 2015. PMID: 25613935

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