Lespinasse J - Search Results

1

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C. Devillard F, et al. Among authors: lespinasse j. Am J Med Genet A. 2010 Sep;152A(9):2346-54. doi: 10.1002/ajmg.a.33601. Am J Med Genet A. 2010. PMID: 20684015 Free PMC article.

2

Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization.

Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Devillard F, Lespinasse J, Sèle B. Rousseaux S, et al. Among authors: lespinasse j. Cytogenet Cell Genet. 1995;71(3):240-6. doi: 10.1159/000134118. Cytogenet Cell Genet. 1995. PMID: 7587385

3

Villard L, Briault S, Lossi AM, Paringaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontès M, Gecz J. Villard L, et al. Among authors: lespinasse j. J Med Genet. 1999 Oct;36(10):754-8. doi: 10.1136/jmg.36.10.754. J Med Genet. 1999. PMID: 10528854 Free PMC article.

4

Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)).

Mircher C, Rethore MO, Lespinasse J, Fert-Ferrer S, Lundsteen C, Kirchoff M. Mircher C, et al. Among authors: lespinasse j. Am J Med Genet A. 2003 Apr 15;118A(2):176-9. doi: 10.1002/ajmg.a.10052. Am J Med Genet A. 2003. PMID: 12655498 Review.

5

De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder.

Lespinasse J, Bugge M, Réthoré MO, North MO, Lundsteen C, Kirchhoff M. Lespinasse J, et al. Am J Med Genet A. 2004 Jul 15;128A(2):199-203. doi: 10.1002/ajmg.a.30064. Am J Med Genet A. 2004. PMID: 15214017

6

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Lespinasse J, Testard H, Nugues F, Till M, Cordier MP, Althuser M, Amblard F, Fert-Ferrer S, Durand C, Dalmon F, Pourcel C, Jouk PS. Lespinasse J, et al. Ann Genet. 2004 Oct-Dec;47(4):405-17. doi: 10.1016/j.anngen.2004.07.005. Ann Genet. 2004. PMID: 15581840

7

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J. Le Brun Keris Y, et al. Among authors: lespinasse j. Eur J Med Genet. 2008 Sep-Oct;51(5):472-8. doi: 10.1016/j.ejmg.2008.04.002. Epub 2008 May 2. Eur J Med Genet. 2008. PMID: 18539553

8

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

Lespinasse J, Gimelli S, Béna F, Antonarakis SE, Ansermet F, Paoloni-Giacobino A. Lespinasse J, et al. Eur J Med Genet. 2009 Jan-Feb;52(1):49-52. doi: 10.1016/j.ejmg.2008.10.001. Epub 2008 Oct 21. Eur J Med Genet. 2009. PMID: 18992376

9

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Harbuz R, Lespinasse J, Boulet S, Francannet C, Creveaux I, Benkhelifa M, Jouk PS, Lunardi J, Ray PF. Harbuz R, et al. Among authors: lespinasse j. Prenat Diagn. 2010 Nov;30(11):1072-8. doi: 10.1002/pd.2613. Prenat Diagn. 2010. PMID: 20842625

10

Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.

Gruchy N, Vialard F, Decamp M, Choiset A, Rossi A, Le Meur N, Moirot H, Yardin C, Bonnet-Dupeyron MN, Lespinasse J, Herbaut-Graux M, Till M, Layet V, Leporrier N. Gruchy N, et al. Among authors: lespinasse j. Hum Reprod. 2011 Sep;26(9):2570-5. doi: 10.1093/humrep/der193. Epub 2011 Jul 5. Hum Reprod. 2011. PMID: 21733853

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