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Page 1
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Lehalle D, Colombo R, O'Grady M, Héron B, Houcinat N, Kuentz P, Moutton S, Sorlin A, Thevenon J, Delanne J, Gay S, Racine C, Garde A, Tran Mau-Them F, Philippe C, Vitobello A, Nambot S, Huet F, Duffourd Y, Feillet F, Thauvin-Robinet C, Marlin S, Faivre L. Lehalle D, et al. Am J Med Genet A. 2019 Sep;179(9):1756-1763. doi: 10.1002/ajmg.a.61273. Epub 2019 Jun 26. Am J Med Genet A. 2019. PMID: 31241255
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J. Lehalle D, et al. Hum Mutat. 2014 Apr;35(4):478-85. doi: 10.1002/humu.22517. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24470203
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.
Thevenon J, Souchay C, Seabold GK, Dygai-Cochet I, Callier P, Gay S, Corbin L, Duplomb L, Thauvin-Robinet C, Masurel-Paulet A, El Chehadeh S, Avila M, Minot D, Guedj E, Chancenotte S, Bonnet M, Lehalle D, Wang YX, Kuentz P, Huet F, Mosca-Boidron AL, Marle N, Petralia RS, Faivre L. Thevenon J, et al. Among authors: lehalle d. Eur J Hum Genet. 2016 Jun;24(6):911-8. doi: 10.1038/ejhg.2015.221. Epub 2015 Oct 21. Eur J Hum Genet. 2016. PMID: 26486473 Free PMC article.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Stessman HAF, et al. Among authors: lehalle d. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004. Am J Hum Genet. 2016. PMID: 26942287 Free PMC article.
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L. Masurel-Paulet A, et al. Among authors: lehalle d. Am J Med Genet A. 2016 Aug;170(8):2103-10. doi: 10.1002/ajmg.a.37765. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256868
63 results