Morel Y - Search Results

1

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty.

Wagner-Mahler K, Kurzenne JY, Gastaud F, Hoflack M, Panaia Ferrari P, Berard E, Giuliano F, Karmous-Benailly H, Moceri P, Jouannelle C, Bourcier M, Robart E, Morel Y. Wagner-Mahler K, et al. Among authors: morel y. Mol Genet Genomic Med. 2019 Mar;7(3):e558. doi: 10.1002/mgg3.558. Epub 2019 Jan 28. Mol Genet Genomic Med. 2019. PMID: 30690934 Free PMC article.

2

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

Piard J, Mignot B, Arbez-Gindre F, Aubert D, Morel Y, Roze V, McElreavy K, Jonveaux P, Valduga M, Van Maldergem L. Piard J, et al. Among authors: morel y. Am J Med Genet A. 2014 Oct;164A(10):2618-22. doi: 10.1002/ajmg.a.36662. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975717

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

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.

5

Observational study of disorders of sex development in Yaounde, Cameroon.

Sap SNU, Mbono Betoko R, Etoa Etoga M, Mure PY, Morel Y, Dahoun S, Mouafo Tambo F, Moiffo B, Sobngwi E, Koki Ndombo P. Sap SNU, et al. Among authors: morel y. J Pediatr Endocrinol Metab. 2020 Mar 26;33(3):417-423. doi: 10.1515/jpem-2019-0458. J Pediatr Endocrinol Metab. 2020. PMID: 32069241

6

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S. Benko S, et al. Among authors: morel y. J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2. J Med Genet. 2011. PMID: 22051515

7

A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis.

Klee P, Béna F, Birraux J, Dahoun S, Dirlewanger M, Girardin C, Plotton I, Rougemont AL, Morel Y, Schwitzgebel VM. Klee P, et al. Among authors: morel y. Horm Res Paediatr. 2012;78(3):188-92. doi: 10.1159/000336925. Epub 2012 Mar 22. Horm Res Paediatr. 2012. PMID: 22441105

8

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys.

Martinerie L, Morel Y, Gay CL, Pienkowski C, de Kerdanet M, Cabrol S, Lecointre C, Coutant R, Baron S, Colle M, Brauner R, Thibaud E, Leger J, Nihoul-Fekete C, Bouvattier C. Martinerie L, et al. Among authors: morel y. Eur J Endocrinol. 2012 Apr;166(4):687-94. doi: 10.1530/EJE-11-0756. Epub 2012 Jan 11. Eur J Endocrinol. 2012. PMID: 22236473

9

A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.

Rossi M, Vasiljevic A, Labalme A, Dijoud F, Mallet-Motak D, Petcu CA, Touraine R, Vianey-Saban C, Guibaud L, Edery P, Sanlaville D, Morel Y. Rossi M, et al. Among authors: morel y. Am J Med Genet A. 2017 Mar;173(3):654-660. doi: 10.1002/ajmg.a.38093. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160395

10

Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies.

Morel Y, Plotton I, Mallet D, Nicolino M, Bertrand AM, David M, Nihoul-Fekete C, Chatelain P. Morel Y, et al. Adv Exp Med Biol. 2011;707:15-7. doi: 10.1007/978-1-4419-8002-1_4. Adv Exp Med Biol. 2011. PMID: 21691946 No abstract available.

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