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Page 1
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Lissewski C, Chune V, Pantaleoni F, De Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio FC, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio MC, Cave H, Tartaglia M, Zenker M. Lissewski C, et al. Among authors: gerard m. Eur J Hum Genet. 2021 Jan;29(1):51-60. doi: 10.1038/s41431-020-00708-6. Epub 2020 Aug 12. Eur J Hum Genet. 2021. PMID: 32788663 Free PMC article.
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: gerard m. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.
A new lysosomal storage disorder resembling Morquio syndrome in sibs.
Perrin L, Fenneteau O, Ilharreborde B, Capri Y, Gérard M, Quoc EB, Passemard S, Ghoumid J, Caillaud C, Froissart R, Tabet AC, Lebon S, El Ghouzzi V, Mazda K, Verloes A. Perrin L, et al. Among authors: gerard m. Eur J Med Genet. 2012 Mar;55(3):157-62. doi: 10.1016/j.ejmg.2012.01.001. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22330346
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gérard M. Rambaud J, et al. Among authors: gerard m. Am J Med Genet A. 2012 Sep;158A(9):2277-82. doi: 10.1002/ajmg.a.35494. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821638
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, Dieux Coeslier A, Doray B, Dulac O, Drouin-Garraud V, Gérard M, Héron D, Isidor B, Lacombe D, Lyonnet S, Perrin L, Rio M, Roume J, Sauvion S, Toutain A, Vincent-Delorme C, Willems M, Baumann C, Verloes A. Cavé H, et al. Among authors: gerard m. Eur J Hum Genet. 2016 Aug;24(8):1124-31. doi: 10.1038/ejhg.2015.273. Epub 2016 Jan 13. Eur J Hum Genet. 2016. PMID: 26757980 Free PMC article.
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: gerard m. 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.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F. Van Damme T, et al. Among authors: gerard m. Hum Mol Genet. 2018 Oct 15;27(20):3475-3487. doi: 10.1093/hmg/ddy234. Hum Mol Genet. 2018. PMID: 29931299
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ. Schanze I, et al. Among authors: gerard m. Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006. Am J Hum Genet. 2018. PMID: 30388402 Free PMC article.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D. Margot H, et al. Among authors: gerard m. Genet Med. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31. Genet Med. 2020. PMID: 31363182 Free article.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P. Marsili L, et al. Among authors: gerard m. Clin Genet. 2020 May;97(5):723-730. doi: 10.1111/cge.13700. Epub 2020 Jan 16. Clin Genet. 2020. PMID: 31898322
597 results