Mallet D - Search Results

1

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.

Capra V, De Marco P, Merello E, Baffico AM, Baldi M, Divizia MT, Gimelli S, Mallet D, Raso A, Mascelli S, Tomà P, Rossi A, Pavanello M, Cama A, Magnani C. Capra V, et al. Among authors: mallet d. Eur J Med Genet. 2009 Jan-Feb;52(1):17-22. doi: 10.1016/j.ejmg.2008.10.005. Epub 2008 Nov 6. Eur J Med Genet. 2009. PMID: 19022412

2

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: mallet d. 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

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. J Clin Endocrinol Metab. 2004 Oct;89(10):4829-32. doi: 10.1210/jc.2004-0670. J Clin Endocrinol Metab. 2004. PMID: 15472171

4

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

Mazel B, Mallet D, Roucher-Boulez F, Signor CB, Bournez M, Darmency V, Bourgeois V, Poe C, El Khabbaz F, Vitobello A, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L, Nambot S. Mazel B, et al. Among authors: mallet d. Am J Med Genet A. 2022 Dec;188(12):3540-3545. doi: 10.1002/ajmg.a.62966. Epub 2022 Sep 9. Am J Med Genet A. 2022. PMID: 36082874

5

Genetic of gonadal determination.

Morel Y, Roucher F, Mallet D, Plotton I. Morel Y, et al. Among authors: mallet d. 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.

6

Endocrine screening in 32 consecutive patients with hypospadias.

Feyaerts A, Forest MG, Morel Y, Mure PY, Morel-Journel N, Mallet D, Nicolino M, Chatelain P, David M, Mouriquand P. Feyaerts A, et al. Among authors: mallet d. J Urol. 2002 Aug;168(2):720-5; discussion 725. J Urol. 2002. PMID: 12131359

7

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. Among authors: mallet d. 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.

8

[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. Among authors: mallet d. 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.

9

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: mallet d. 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

10

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: mallet d. 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

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