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[Anomalies of sex chromosomes in amniocentesis].
Paoloni-Giacobino A, Dahoun S, Hamany H, Lespinasse J. Paoloni-Giacobino A, et al. Among authors: lespinasse j. Rev Med Suisse Romande. 2004 Mar;124(3):167-9. Rev Med Suisse Romande. 2004. PMID: 15095663 French.
Chromosome Y polysomy: a non-mosaic 49,XYYYY case.
Paoloni-Giacobino A, Lespinasse J. Paoloni-Giacobino A, et al. Among authors: lespinasse j. Clin Dysmorphol. 2007 Jan;16(1):65-66. doi: 10.1097/01.mcd.0000228423.04908.0c. Clin Dysmorphol. 2007. PMID: 17159520 Review.
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
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE. Lyle R, et al. Among authors: lespinasse j. Eur J Hum Genet. 2009 Apr;17(4):454-66. doi: 10.1038/ejhg.2008.214. Epub 2008 Nov 12. Eur J Hum Genet. 2009. PMID: 19002211 Free PMC article.
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium; Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S. Martin-Brevet S, et al. Biol Psychiatry. 2018 Aug 15;84(4):253-264. doi: 10.1016/j.biopsych.2018.02.1176. Epub 2018 Mar 27. Biol Psychiatry. 2018. PMID: 29778275 Free article.
118 results