Bain N - Search Results

1

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Sy MR, et al. Among authors: bain n. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. Am J Med Genet A. 2022. PMID: 36135330 Free PMC article.

2

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.

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

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

5

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

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

A familial rearrangement resulting in pure duplication of distal 19p13.3.

Bain NL, Koulouris N, Scott R, Buckman M, Goel H. Bain NL, et al. Clin Dysmorphol. 2023 Oct 1;32(4):184-188. doi: 10.1097/MCD.0000000000000466. Epub 2023 Jun 16. Clin Dysmorphol. 2023. PMID: 37678403 No abstract available.

8

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

9

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

10

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

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