Belaud-Rotureau MA - Search Results

1

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau MA, Touraine P, Jaillard S, Sinclair AH. Tucker EJ, et al. Eur J Hum Genet. 2022 Feb;30(2):219-228. doi: 10.1038/s41431-021-00977-9. Epub 2021 Oct 28. Eur J Hum Genet. 2022. PMID: 34707299 Free PMC article.

2

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

Jaillard S, Loget P, Lucas J, Dubourg C, Le Bouar G, Demurger F, Bertorello I, David V, Poulain P, Odent S, Belaud-Rotureau MA. Jaillard S, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):186-8. doi: 10.1016/j.ejmg.2010.11.001. Epub 2010 Nov 27. Eur J Med Genet. 2011. PMID: 21115145

3

5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.

Jaillard S, Andrieux J, Plessis G, Krepischi AC, Lucas J, David V, Le Brun M, Bertola DR, David A, Belaud-Rotureau MA, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Jaillard S, et al. Am J Med Genet A. 2011 Apr;155A(4):725-31. doi: 10.1002/ajmg.a.33758. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594994

4

Histologic prognostic factors associated with chromosomal imbalances in a contemporary series of 89 clear cell renal cell carcinomas.

Dagher J, Dugay F, Verhoest G, Cabillic F, Jaillard S, Henry C, Arlot-Bonnemains Y, Bensalah K, Oger E, Vigneau C, Rioux-Leclercq N, Belaud-Rotureau MA. Dagher J, et al. Hum Pathol. 2013 Oct;44(10):2106-15. doi: 10.1016/j.humpath.2013.03.018. Epub 2013 Jun 24. Hum Pathol. 2013. PMID: 23806527

5

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

Fievet A, Belaud-Rotureau MA, Dugay F, Abadie C, Henry C, Taque S, Andrieux J, Guyetant S, Robert M, Dubourg C, Edan C, Rioux-Leclercq N, Odent S, Jaillard S. Fievet A, et al. Eur J Med Genet. 2013 Dec;56(12):643-7. doi: 10.1016/j.ejmg.2013.10.004. Epub 2013 Oct 24. Eur J Med Genet. 2013. PMID: 24161495

6

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion.

Blanchard M, Dubourg C, Pasquier L, Odent S, Lucas J, Quélin C, Launay E, Akloul L, Henry C, Belaud-Rotureau MA, Dugay F, Jaillard S. Blanchard M, et al. Eur J Med Genet. 2014 Apr;57(5):195-9. doi: 10.1016/j.ejmg.2013.12.010. Epub 2014 Jan 31. Eur J Med Genet. 2014. PMID: 24486987

7

Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.

Jaillard S, Bashamboo A, Pasquier L, Belaud-Rotureau MA, McElreavey K, Odent S, Ravel C. Jaillard S, et al. J Assist Reprod Genet. 2015 Feb;32(2):287-91. doi: 10.1007/s10815-014-0383-0. Epub 2014 Nov 12. J Assist Reprod Genet. 2015. PMID: 25388168 Free PMC article. No abstract available.

8

Karyotype is not dead (yet)!

Pasquier L, Fradin M, Chérot E, Martin-Coignard D, Colin E, Journel H, Demurger F, Akloul L, Quélin C, Jauffret V, Lucas J, Belaud-Rotureau MA, Odent S, Jaillard S. Pasquier L, et al. Eur J Med Genet. 2016 Jan;59(1):11-5. doi: 10.1016/j.ejmg.2015.11.016. Epub 2015 Dec 10. Eur J Med Genet. 2016. PMID: 26691665

9

Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.

Jaillard S, Akloul L, Beaumont M, Hamdi-Roze H, Dubourg C, Odent S, Duros S, Dejucq-Rainsford N, Belaud-Rotureau MA, Ravel C. Jaillard S, et al. J Ovarian Res. 2016 Oct 3;9(1):63. doi: 10.1186/s13048-016-0272-5. J Ovarian Res. 2016. PMID: 27716277 Free PMC article.

10

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.

Jaillard S, Tucker EJ, Akloul L, Beaumont M, Domin M, Pasquier L, Jouve G, Odent S, Belaud-Rotureau MA, Ravel C. Jaillard S, et al. J Hum Genet. 2018 May;63(5):691-698. doi: 10.1038/s10038-018-0433-z. Epub 2018 Mar 14. J Hum Genet. 2018. PMID: 29540854

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