Bain N - Search Results

1

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.

Leffler M, Puusepp S, Žilina O, Zhu Y, Kuuse K, Bain N, Burgess T, Õunap K, Field M. Leffler M, et al. Among authors: bain n. Eur J Med Genet. 2016 Apr;59(4):257-62. doi: 10.1016/j.ejmg.2015.12.002. Epub 2015 Dec 12. Eur J Med Genet. 2016. PMID: 26689622

2

FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O'Donnell S, Burgess T, Shaw M, Gecz J, Bain N, Fagan K, Hunter MF. Le Fevre AK, et al. Among authors: bain n. Am J Med Genet A. 2013 Dec;161A(12):3166-75. doi: 10.1002/ajmg.a.36174. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214399

3

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

Rao A, O'Donnell S, Bain N, Meldrum C, Shorter D, Goel H. Rao A, et al. Among authors: bain n. Eur J Med Genet. 2014 Feb;57(2-3):65-70. doi: 10.1016/j.ejmg.2013.12.011. Epub 2014 Jan 22. Eur J Med Genet. 2014. PMID: 24462883

4

A familial 7q36.3 duplication associated with agenesis of the corpus callosum.

Wong K, Moldrich R, Hunter M, Edwards M, Finlay D, O'Donnell S, MacDougall T, Bain N, Kamien B. Wong K, et al. Among authors: bain n. Am J Med Genet A. 2015 Sep;167A(9):2201-8. doi: 10.1002/ajmg.a.37143. Epub 2015 May 5. Am J Med Genet A. 2015. PMID: 25944787

5

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.

Ishibashi M, Manning E, Shoubridge C, Krecsmarik M, Hawkins TA, Giacomotto J, Zhao T, Mueller T, Bader PI, Cheung SW, Stankiewicz P, Bain NL, Hackett A, Reddy CC, Mechaly AS, Peers B, Wilson SW, Lenhard B, Bally-Cuif L, Gecz J, Becker TS, Rinkwitz S. Ishibashi M, et al. Hum Genet. 2015 Nov;134(11-12):1163-82. doi: 10.1007/s00439-015-1594-x. Epub 2015 Sep 4. Hum Genet. 2015. PMID: 26337422

6

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

Kamien B, Digilio MC, Novelli A, O'Donnell S, Bain N, Meldrum C, Dudding-Byth T, Scott RJ, Goel H. Kamien B, et al. Among authors: bain n. Eur J Med Genet. 2015 Nov;58(11):629-33. doi: 10.1016/j.ejmg.2015.10.006. Epub 2015 Oct 23. Eur J Med Genet. 2015. PMID: 26475974

7

Outfoxed by RBFOX1-a caution about ascertainment bias.

Kamien B, Lionel AC, Bain N, Scherer SW, Hunter M. Kamien B, et al. Among authors: bain n. Am J Med Genet A. 2014 Jun;164A(6):1411-8. doi: 10.1002/ajmg.a.36458. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664471

8

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C. Chatron N, et al. Among authors: bain n. Am J Med Genet A. 2015 May;167A(5):1008-17. doi: 10.1002/ajmg.a.36856. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25728055

9

Clinical features associated with a 15.41 Mb deletion of chromosome 13q encompassing the MIR17HG locus.

S Sharaidin H, Knipe S, Bain N, Goel H. S Sharaidin H, et al. Among authors: bain n. Clin Dysmorphol. 2013 Apr;22(2):68-70. doi: 10.1097/MCD.0b013e32835f56b3. Clin Dysmorphol. 2013. PMID: 23448905 No abstract available.

10

16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.

Miteff CI, Smith RL, Bain NL, Subramanian G, Brown JE, Kamien B. Miteff CI, et al. J Child Neurol. 2015 Jan;30(1):83-6. doi: 10.1177/0883073813516382. Epub 2014 Jan 21. J Child Neurol. 2015. PMID: 24453159

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