Cacheux V - Search Results

1

Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

Utami KH, Winata CL, Hillmer AM, Aksoy I, Long HT, Liany H, Chew EG, Mathavan S, Tay SK, Korzh V, Sarda P, Davila S, Cacheux V. Utami KH, et al. Among authors: cacheux v. Hum Mutat. 2014 Nov;35(11):1311-20. doi: 10.1002/humu.22636. Epub 2014 Sep 23. Hum Mutat. 2014. PMID: 25137640 Review.

2

Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.

Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, Lee CW, Chen PJ, Seng CC, Ariyaratne PN, Rouam SL, Soo LS, Yousoof S, Prokudin I, Peters G, Collins F, Wilson M, Kakakios A, Haddad G, Menuet A, Perche O, Tay SK, Sung KW, Ruan X, Ruan Y, Liu ET, Briault S, Jamieson RV, Davila S, Cacheux V. Utami KH, et al. Among authors: cacheux v. PLoS One. 2014 Mar 6;9(6):e90852. doi: 10.1371/journal.pone.0090852. eCollection 2014. PLoS One. 2014. PMID: 24603971 Free PMC article.

3

Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders.

Aksoy I, Utami KH, Winata CL, Hillmer AM, Rouam SL, Briault S, Davila S, Stanton LW, Cacheux V. Aksoy I, et al. Among authors: cacheux v. Hum Mol Genet. 2017 Jan 15;26(2):367-382. doi: 10.1093/hmg/ddw393. Hum Mol Genet. 2017. PMID: 28365779

4

Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.

Perche O, Menuet A, Marcos M, Liu L, Pâris A, Utami KH, Kervran D, Cacheux V, Laudier B, Briault S. Perche O, et al. Among authors: cacheux v. Eur J Med Genet. 2013 Nov;56(11):635-41. doi: 10.1016/j.ejmg.2013.07.007. Epub 2013 Sep 4. Eur J Med Genet. 2013. PMID: 24013099

5

CD44-SLC1A2 gene fusions in gastric cancer.

Tao J, Deng NT, Ramnarayanan K, Huang B, Oh HK, Leong SH, Lim SS, Tan IB, Ooi CH, Wu J, Lee M, Zhang S, Rha SY, Chung HC, Smoot DT, Ashktorab H, Kon OL, Cacheux V, Yap C, Palanisamy N, Tan P. Tao J, et al. Among authors: cacheux v. Sci Transl Med. 2011 Apr 6;3(77):77ra30. doi: 10.1126/scitranslmed.3001423. Sci Transl Med. 2011. PMID: 21471434 Free article.

6

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

Sanlaville D, Baumann C, Lapierre JM, Romana S, Collot N, Cacheux V, Turleau C, Tachdjian G. Sanlaville D, et al. Among authors: cacheux v. Am J Med Genet. 1999 Mar 12;83(2):125-31. doi: 10.1002/(sici)1096-8628(19990312)83:2<125::aid-ajmg8>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10190483 Review.

7

Localization of the CDKN4/p27Kip1 gene to human chromosome 12p12.3.

Martin E, Cacheux V, Cavé H, Lapierre JM, Le Paslier D, Grandchamp B. Martin E, et al. Among authors: cacheux v. Hum Genet. 1995 Dec;96(6):668-70. doi: 10.1007/BF00210296. Hum Genet. 1995. PMID: 8522324

8

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. Among authors: cacheux v. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223

9

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers Av, Goossens M, Grüters A, Amselem S. Netchine I, et al. Among authors: cacheux v. Nat Genet. 2000 Jun;25(2):182-6. doi: 10.1038/76041. Nat Genet. 2000. PMID: 10835633

10

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M. Cacheux V, et al. Hum Mol Genet. 2001 Jul 1;10(14):1503-10. doi: 10.1093/hmg/10.14.1503. Hum Mol Genet. 2001. PMID: 11448942

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