Benoit V - Search Results

1

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

Moortgat S, Benoit V, Deprez M, Charon A, Maystadt I. Moortgat S, et al. Among authors: benoit v. Eur J Med Genet. 2014 Apr;57(5):212-5. doi: 10.1016/j.ejmg.2014.02.003. Epub 2014 Mar 5. Eur J Med Genet. 2014. PMID: 24613578

2

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. Lederer D, et al. Among authors: benoit v. Am J Hum Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub 2011 Dec 22. Am J Hum Genet. 2012. PMID: 22197486 Free PMC article.

3

RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.

Maystadt I, Destree A, Benoit V, Aeby A, Lederer D, Moortgat S, Jurkiewicz D, Krajewska-Walasek M, Hanauer A, Thomas GM. Maystadt I, et al. Among authors: benoit v. Clin Genet. 2014 Jan;85(1):96-9. doi: 10.1111/cge.12122. Epub 2013 Mar 17. Clin Genet. 2014. PMID: 23495752 No abstract available.

4

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

Paquay S, Benoit V, Wetzburger C, Cordonnier M, Meire F, Charon A, Roland D, Van Coster R, Nassogne MC, Maystadt I. Paquay S, et al. Among authors: benoit v. J Child Neurol. 2014 Aug;29(8):NP18-23. doi: 10.1177/0883073813492895. Epub 2013 Jul 17. J Child Neurol. 2014. PMID: 23864591

5

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D. Banka S, et al. Among authors: benoit v. Clin Genet. 2015 Mar;87(3):252-8. doi: 10.1111/cge.12363. Epub 2014 Mar 27. Clin Genet. 2015. PMID: 24527667

6

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. Lederer D, et al. Among authors: benoit v. Am J Med Genet A. 2014 May;164A(5):1289-92. doi: 10.1002/ajmg.a.36442. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664873 Review.

7

DYRK1A mutations in two unrelated patients.

Ruaud L, Mignot C, Guët A, Ohl C, Nava C, Héron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J. Ruaud L, et al. Among authors: benoit v. Eur J Med Genet. 2015 Mar;58(3):168-74. doi: 10.1016/j.ejmg.2014.12.014. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641759

8

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, Mohammed S, Vasudevan PC, Park SM, Benoit V, Lederer D, Maystadt I, Study D, FitzPatrick DR. Parker MJ, et al. Among authors: benoit v. Am J Med Genet A. 2015 Oct;167A(10):2231-7. doi: 10.1002/ajmg.a.37189. Epub 2015 Jun 15. Am J Med Genet A. 2015. PMID: 26079862 Free PMC article.

9

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I. Moortgat S, et al. Among authors: benoit v. Am J Med Genet A. 2016 Nov;170(11):2927-2933. doi: 10.1002/ajmg.a.37792. Epub 2016 Jun 22. Am J Med Genet A. 2016. PMID: 27333055

10

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C. Smogavec M, et al. Among authors: benoit v. J Med Genet. 2016 Dec;53(12):820-827. doi: 10.1136/jmedgenet-2016-103880. Epub 2016 Jul 20. J Med Genet. 2016. PMID: 27439707

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