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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Gruchy N, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez Pocquet M, Lebel-Roy C, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge-Rame MA, Vago P, Valduga M, Leporrier N, Vialard F. Gruchy N, et al. Prenat Diagn. 2016 Jun;36(6):523-9. doi: 10.1002/pd.4817. Epub 2016 May 10. Prenat Diagn. 2016. PMID: 27018091
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG. Ben-Mahmoud A, et al. Among authors: gruchy n. Sci Rep. 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4. Sci Rep. 2023. PMID: 37563198 Free PMC 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.
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
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
Molin A, Benoist G, Jeanne-Pasquier C, Elkartoufi N, Litzer J, Decamp M, Gruchy N, Durand-Malbruny M, Begorre M, Attie-Bitach T, Leporrier N. Molin A, et al. Among authors: gruchy n. Eur J Med Genet. 2013 Oct;56(10):580-3. doi: 10.1016/j.ejmg.2013.08.002. Epub 2013 Aug 15. Eur J Med Genet. 2013. PMID: 23954617
49 results