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Page 1
TCF4 deletions in Pitt-Hopkins Syndrome.
Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A. Giurgea I, et al. Among authors: goossens m. Hum Mutat. 2008 Nov;29(11):E242-51. doi: 10.1002/humu.20859. Hum Mutat. 2008. PMID: 18781613
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I. Whalen S, et al. Among authors: goossens m. Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23. Hum Mutat. 2012. PMID: 22045651
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Bondurand N, et al. Among authors: goossens m. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22. Am J Hum Genet. 2007. PMID: 17999358 Free PMC article.
Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders.
El Khouri E, Ghoumid J, Haye D, Giuliano F, Drevillon L, Briand-Suleau A, De La Grange P, Nau V, Gaillon T, Bienvenu T, Jacquemin-Sablon H, Goossens M, Amselem S, Giurgea I. El Khouri E, et al. Among authors: goossens m. Mol Psychiatry. 2021 Jul;26(7):3572-3585. doi: 10.1038/s41380-021-01072-7. Epub 2021 Apr 19. Mol Psychiatry. 2021. PMID: 33867523
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. Dastot-Le Moal F, et al. Among authors: goossens m. Hum Mutat. 2007 Apr;28(4):313-21. doi: 10.1002/humu.20452. Hum Mutat. 2007. PMID: 17203459
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Tosca L, Drévillon L, Mouka A, Lecerf L, Briand A, Ortonne V, Benoit V, Brisset S, Van Maldergem L, Laudouar Q, Heide S, Goossens M, Giurgea I, Tachdjian G, Métay C. Tosca L, et al. Among authors: goossens m. Mol Genet Genomic Med. 2021 Nov;9(11):e1645. doi: 10.1002/mgg3.1645. Epub 2021 Sep 28. Mol Genet Genomic Med. 2021. PMID: 34582124 Free PMC article.
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Among authors: goossens m. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.
564 results