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Page 1
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Socha M, Sowińska-Seidler A, Melo US, Kragesteen BK, Franke M, Heinrich V, Schöpflin R, Nagel I, Gruchy N, Mundlos S, Sreenivasan VKA, López C, Vingron M, Bukowska-Olech E, Spielmann M, Jamsheer A. Socha M, et al. Among authors: gruchy n. Am J Hum Genet. 2021 Sep 2;108(9):1725-1734. doi: 10.1016/j.ajhg.2021.08.001. Epub 2021 Aug 24. Am J Hum Genet. 2021. PMID: 34433009 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.
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
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
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschké P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J. Alessandri JL, et al. Among authors: gruchy n. Eur J Hum Genet. 2018 Mar;26(3):340-349. doi: 10.1038/s41431-017-0087-x. Epub 2018 Jan 12. Eur J Hum Genet. 2018. PMID: 29330547 Free PMC article.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. Celse T, et al. Among authors: gruchy n. J Med Genet. 2023 Jun;60(6):620-626. doi: 10.1136/jmg-2022-108678. Epub 2022 Nov 11. J Med Genet. 2023. PMID: 36368868
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: gruchy n. Am J Med Genet A. 2024 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421086
47 results