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Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: jaubert f. Hum Mutat. 2009 Apr;30(4):669-76. doi: 10.1002/humu.20935. Hum Mutat. 2009. PMID: 19235238
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdayer C, Blois MC, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. Delnatte C, et al. Among authors: jaubert f. Am J Hum Genet. 2006 Jun;78(6):1066-74. doi: 10.1086/504301. Epub 2006 Apr 14. Am J Hum Genet. 2006. PMID: 16685657 Free PMC article.
Hermaphroditism pathology.
Jaubert F, Nihoul-Fékété C, Lortat-Jacob S, Josso N, Fellous M. Jaubert F, et al. Rom J Morphol Embryol. 1999-2004;45:41-51. Rom J Morphol Embryol. 1999. PMID: 15847378 Review.
Neonatal hyperinsulinism: clinicopathologic correlation.
Delonlay P, Simon A, Galmiche-Rolland L, Giurgea I, Verkarre V, Aigrain Y, Santiago-Ribeiro MJ, Polak M, Robert JJ, Bellanne-Chantelot C, Brunelle F, Nihoul-Fekete C, Jaubert F. Delonlay P, et al. Among authors: jaubert f. Hum Pathol. 2007 Mar;38(3):387-99. doi: 10.1016/j.humpath.2006.12.007. Hum Pathol. 2007. PMID: 17303499 Review.
228 results