Thomas NS - Search Results

1

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH.

Mercer CL, Browne CE, Barber JC, Maloney VK, Huang S, Thomas NS, Foulds N, MacLachlan N. Mercer CL, et al. Among authors: thomas ns. Cytogenet Genome Res. 2009;124(2):179-86. doi: 10.1159/000207526. Epub 2009 May 5. Cytogenet Genome Res. 2009. PMID: 19420931

2

Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities.

Cockwell AE, Maloney VK, Thomas NS, Smith EL, Gonda P, Bass P, Crolla JA. Cockwell AE, et al. Among authors: thomas ns. Cytogenet Genome Res. 2006;112(1-2):166-9. doi: 10.1159/000087530. Cytogenet Genome Res. 2006. PMID: 16276107

3

Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.

Barber JC, Maloney VK, Kirchhoff M, Thomas NS, Boyle TA, Castle B. Barber JC, et al. Among authors: thomas ns. Am J Med Genet A. 2007 Mar 15;143A(6):615-8. doi: 10.1002/ajmg.a.31614. Am J Med Genet A. 2007. PMID: 17318843 No abstract available.

4

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA. Baptista J, et al. Among authors: thomas ns. Am J Hum Genet. 2008 Apr;82(4):927-36. doi: 10.1016/j.ajhg.2008.02.012. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371933 Free PMC article.

5

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).

Thomas NS, Maloney V, Bryant V, Huang S, Brewer C, Lachlan K, Jacobs PA. Thomas NS, et al. Hum Genet. 2009 Mar;125(2):181-8. doi: 10.1007/s00439-008-0611-8. Epub 2008 Dec 24. Hum Genet. 2009. PMID: 19104840

6

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Mercer CL, Lachlan K, Karcanias A, Affara N, Huang S, Jacobs PA, Thomas NS. Mercer CL, et al. Among authors: thomas ns. Eur J Med Genet. 2013 Jan;56(1):1-6. doi: 10.1016/j.ejmg.2012.08.012. Epub 2012 Oct 8. Eur J Med Genet. 2013. PMID: 23059468

7

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

Thomas NS, Browne CE, Oley C, Healey S, Crolla JA. Thomas NS, et al. Hum Genet. 1999 Nov;105(5):384-7. doi: 10.1007/s004390051120. Hum Genet. 1999. PMID: 10598802

8

Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.

Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, Maloney VK, Thomas NS, Bunyan DJ, Jackson A, Barber JC. Glancy M, et al. Among authors: thomas ns. Eur J Hum Genet. 2009 Jan;17(1):37-43. doi: 10.1038/ejhg.2008.133. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716609 Free PMC article.

9

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, Banks V, Ellingwood S, Kharbutli Y, Mehta L, Eddleman KA, Marble M, Zambrano R, Crolla JA, Lamb AN. Barber JC, et al. Among authors: thomas ns. Am J Med Genet A. 2013 Mar;161A(3):487-500. doi: 10.1002/ajmg.a.35767. Epub 2013 Jan 23. Am J Med Genet A. 2013. PMID: 23345203

10

Investigation of the origins of human autosomal inversions.

Thomas NS, Bryant V, Maloney V, Cockwell AE, Jacobs PA. Thomas NS, et al. Hum Genet. 2008 Jul;123(6):607-16. doi: 10.1007/s00439-008-0510-z. Epub 2008 May 10. Hum Genet. 2008. PMID: 18470537

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

272 results

Search Page

Filters