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49 results

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Page 1
De novo 15q13.3 microdeletion with cryptogenic West syndrome.
Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M. Lacaze E, et al. Among authors: gruchy n. Am J Med Genet A. 2013 Oct;161A(10):2582-7. doi: 10.1002/ajmg.a.36085. Epub 2013 Aug 8. Am J Med Genet A. 2013. PMID: 23929658
Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.
Daoud H, Gruchy N, Constans JM, Moussaoui E, Saumureau S, Bayou N, Amy M, Védrine S, Vu PY, Rötig A, Laumonnier F, Vourc'h P, Andres CR, Leporrier N, Briault S. Daoud H, et al. Among authors: gruchy n. Hum Genet. 2009 Jan;124(6):649-58. doi: 10.1007/s00439-008-0588-3. Epub 2008 Nov 16. Hum Genet. 2009. PMID: 19011903
Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis.
Richard N, Leprince C, Gruchy N, Pigny P, Andrieux J, Mittre H, Manouvrier S, Lahlou N, Weill J, Kottler ML. Richard N, et al. Among authors: gruchy n. Endocr J. 2011;58(9):769-76. doi: 10.1507/endocrj.k11e-119. Epub 2011 Jun 30. Endocr J. 2011. PMID: 21720050 Free article.
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M. Leroy C, et al. Among authors: gruchy n. Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17. Eur J Hum Genet. 2013. PMID: 23073310 Free PMC article.
49 results