Brisset S - Search Results

1

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Petit FM, Hébert M, Picone O, Brisset S, Maurin ML, Parisot F, Capel L, Benattar C, Sénat MV, Tachdjian G, Labrune P. Petit FM, et al. Among authors: brisset s. Eur J Hum Genet. 2009 Mar;17(3):387-90. doi: 10.1038/ejhg.2008.186. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854864 Free PMC article.

2

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Tosca L, Brisset S, Petit FM, Lecerf L, Rousseau G, Bas C, Laroudie M, Maurin ML, Tapia S, Picone O, Prevot S, Goossens M, Labrune P, Tachdjian G. Tosca L, et al. Among authors: brisset s. Eur J Hum Genet. 2010 Aug;18(8):882-8. doi: 10.1038/ejhg.2010.46. Epub 2010 Apr 28. Eur J Hum Genet. 2010. PMID: 20424646 Free PMC article.

3

Genotype-phenotype correlation in 13q13.3-q21.3 deletion.

Tosca L, Brisset S, Petit FM, Metay C, Latour S, Lautier B, Lebas A, Druart L, Picone O, Mas AE, Prévot S, Tardieu M, Goossens M, Tachdjian G. Tosca L, et al. Among authors: brisset s. Eur J Med Genet. 2011 Sep-Oct;54(5):e489-94. doi: 10.1016/j.ejmg.2011.06.004. Epub 2011 Jun 21. Eur J Med Genet. 2011. PMID: 21741501

4

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

Huynh MT, Tosca L, Petit F, Martinovic J, Proust A, Bouligand J, Amiel J, Azria E, Parisot F, Benoit V, Receveur A, Drévillon L, Tachdjian G, Brisset S. Huynh MT, et al. Among authors: brisset s. Eur J Med Genet. 2018 Jun;61(6):322-328. doi: 10.1016/j.ejmg.2018.01.009. Epub 2018 Feb 3. Eur J Med Genet. 2018. PMID: 29366875

5

15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.

Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A. Huynh MT, et al. Among authors: brisset s. Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14. Eur J Med Genet. 2018. PMID: 29549028

6

Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.

L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G. L'Herminé AC, et al. Among authors: brisset s. Prenat Diagn. 2003 Nov;23(11):938-43. doi: 10.1002/pd.732. Prenat Diagn. 2003. PMID: 14634983

7

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

Raymond L, Francou B, Petit F, Tosca L, Briand-Suleau A, Metay C, Martinovic J, Cordier AG, Benachi A, Pineau D, Guiochon-Mantel A, Goossens M, Tachdjian G, Brisset S. Raymond L, et al. Among authors: brisset s. Eur J Med Genet. 2015 Nov;58(11):591-6. doi: 10.1016/j.ejmg.2015.09.006. Epub 2015 Sep 16. Eur J Med Genet. 2015. PMID: 26386246

8

Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.

Mayeur Le Bras A, Petit F, Benachi A, Bedel B, Oucherif S, Martinovic J, Armanet N, Tosca L, Gautier V, Parisot F, Labrune P, Tachdjian G, Brisset S. Mayeur Le Bras A, et al. Among authors: brisset s. Birth Defects Res A Clin Mol Teratol. 2016 Apr;106(4):298-303. doi: 10.1002/bdra.23457. Epub 2016 Mar 2. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26931099

9

[Risk of missed diagnosis of 22q11.2 deletion in a fetal cardiac conotruncal malformation when another chromosomal abnormality is detected].

Picone O, Brisset S, Senat MV, Maurin ML, Frydman R, Tachdjian G. Picone O, et al. Among authors: brisset s. J Gynecol Obstet Biol Reprod (Paris). 2008 May;37(3):299-301. doi: 10.1016/j.jgyn.2007.11.001. Epub 2007 Dec 21. J Gynecol Obstet Biol Reprod (Paris). 2008. PMID: 18160230 Free article. French.

10

[Evaluation of the third trimester amniocentesis for fetal karyotyping in women with fear of pregnancy loss].

Picone O, Fuchs F, Sénat MV, Brisset S, Tachdjian G, Audibert F, Fernandez H, Frydman R. Picone O, et al. Among authors: brisset s. J Gynecol Obstet Biol Reprod (Paris). 2008 Jun;37(4):385-91. doi: 10.1016/j.jgyn.2007.11.030. Epub 2008 Jan 8. J Gynecol Obstet Biol Reprod (Paris). 2008. PMID: 18191913 Free article. French.

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