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Page 1
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V. Nizon M, et al. Among authors: bourgois b. Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425167 Review.
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
Masurel-Paulet A, Drumare I, Holder M, Cuisset JM, Vallée L, Defoort S, Bourgois B, Pernes P, Cuvellier JC, Huet F, Chehadeh SE, Thevenon J, Callier P, Thauvin C, Faivre L, Andrieux J. Masurel-Paulet A, et al. Among authors: bourgois b. Am J Med Genet A. 2014 Jun;164A(6):1537-44. doi: 10.1002/ajmg.a.36471. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668847
Neuropsychological profile on the WISC-IV of French children with dyslexia.
De Clercq-Quaegebeur M, Casalis S, Lemaitre MP, Bourgois B, Getto M, Vallée L. De Clercq-Quaegebeur M, et al. Among authors: bourgois b. J Learn Disabil. 2010 Nov-Dec;43(6):563-74. doi: 10.1177/0022219410375000. Epub 2010 Jul 8. J Learn Disabil. 2010. PMID: 20616371
Long-term outcome of colon interposition after esophagectomy in children.
Coopman S, Michaud L, Halna-Tamine M, Bonnevalle M, Bourgois B, Turck D, Gottrand F. Coopman S, et al. Among authors: bourgois b. J Pediatr Gastroenterol Nutr. 2008 Oct;47(4):458-62. doi: 10.1097/MPG.0b013e31815ce55c. J Pediatr Gastroenterol Nutr. 2008. PMID: 18852638
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Morisot C, Millat G, Coeslier A, Bourgois B, Fontenoy E, Dobbelaere D, Verot L, Haouari N, Vaillant C, Gottrand F, Bogaert E, Thelliez P, Klosowski S, Djebara A, Bachiri A, Manouvrier S, Vanier MT. Morisot C, et al. Among authors: bourgois b. Arch Pediatr. 2005 Apr;12(4):434-7. doi: 10.1016/j.arcped.2005.01.015. Arch Pediatr. 2005. PMID: 15808435 French.
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