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Page 1
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Gatinois V, Bigi N, Mousty E, Chiesa J, Musizzano Y, Schneider A, Lefort G, Pinson L, Gaillard JB, Ragon C, Perez MJ, Tournaire M, Blanchet P, Corsini C, Haquet E, Callier P, Geneviève D, Pellestor F, Puechberty J. Gatinois V, et al. Among authors: blanchet p. Mol Genet Genomic Med. 2019 Nov;7(11):e00895. doi: 10.1002/mgg3.895. Epub 2019 Sep 7. Mol Genet Genomic Med. 2019. PMID: 31493343 Free PMC article.
Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion.
Lefort G, Blanchet P, Belgrade N, Rivier F, Chaze AM, Sarda P, Demaille J, Pellestor F. Lefort G, et al. Among authors: blanchet p. Am J Med Genet. 2002 Dec 15;113(4):333-8. doi: 10.1002/ajmg.b.10720. Am J Med Genet. 2002. Corrected and republished in: Am J Med Genet A. 2003 Apr 15;118A(2):333-8. PMID: 12457404 Corrected and republished.
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
Perez MJ, Schneider A, Chaze AM, Bigi N, Lefort G, Rouleau C, Faure JM, Rahil H, Wadih N, Couture A, Boulot P, Blanchet P, Sarda P, Geneviève D. Perez MJ, et al. Among authors: blanchet p. Prenat Diagn. 2009 Nov;29(11):1085-8. doi: 10.1002/pd.2350. Prenat Diagn. 2009. PMID: 19777540 No abstract available.
Prevalence and timing of pregnancy termination for brain malformations.
Rouleau C, Gasner A, Bigi N, Couture A, Perez MJ, Blanchet P, Faure JM, Rivier F, Boulot P, Laquerrière A, Encha-Razavi F. Rouleau C, et al. Among authors: blanchet p. Arch Dis Child Fetal Neonatal Ed. 2011 Sep;96(5):F360-4. doi: 10.1136/adc.2010.201483. Epub 2011 Jan 19. Arch Dis Child Fetal Neonatal Ed. 2011. PMID: 21252198
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, Girard M, Tournaire M, Jorgensen C, Morin D, Sarda P, Lefort G, Geneviève D. Amouroux C, et al. Among authors: blanchet p. Eur J Hum Genet. 2012 May;20(5):580-3. doi: 10.1038/ejhg.2011.243. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258531 Free PMC article.
437 results