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Page 1
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. Putoux A, et al. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552264 Free PMC article.
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. J Exp Med. 2012. PMID: 23230001 Free PMC article.
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V. Huber C, et al. Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273569 Free PMC article.
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V. Bui C, et al. Am J Hum Genet. 2014 Mar 6;94(3):405-14. doi: 10.1016/j.ajhg.2014.01.020. Epub 2014 Feb 27. Am J Hum Genet. 2014. PMID: 24581741 Free PMC article.
Contiguous mutation syndrome in the era of high-throughput sequencing.
Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L. Langouët M, et al. Mol Genet Genomic Med. 2015 May;3(3):215-20. doi: 10.1002/mgg3.134. Epub 2015 Mar 18. Mol Genet Genomic Med. 2015. PMID: 26029708 Free PMC article.
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study; Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L. Mircsof D, et al. Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16. Nat Neurosci. 2015. PMID: 26571461 Free PMC article.
Refining the phenotype associated with CASC5 mutation.
Saadi A, Verny F, Siquier-Pernet K, Bole-Feysot C, Nitschke P, Munnich A, Abada-Dendib M, Chaouch M, Abramowicz M, Colleaux L. Saadi A, et al. Neurogenetics. 2016 Jan;17(1):71-8. doi: 10.1007/s10048-015-0468-7. Epub 2015 Dec 1. Neurogenetics. 2016. PMID: 26626498
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H. Bhoj EJ, et al. Am J Hum Genet. 2016 Apr 7;98(4):782-8. doi: 10.1016/j.ajhg.2016.03.016. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040691 Free PMC article.
176 results