Thomas NS - Search Results

1

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.

Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M, Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Among authors: thomas ns. Am J Hum Genet. 2006 Aug;79(2):409-14; author reply 414. doi: 10.1086/506390. Am J Hum Genet. 2006. PMID: 16826534 Free PMC article. No abstract available.

2

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: thomas ns. Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175500 Free PMC article.

3

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

Benito-Sanz S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: thomas ns. J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604558 Review.

4

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.

Bunyan DJ, Baker KR, Harvey JF, Thomas NS. Bunyan DJ, et al. Among authors: thomas ns. Am J Med Genet A. 2013 Jun;161A(6):1329-38. doi: 10.1002/ajmg.a.35919. Epub 2013 May 1. Am J Med Genet A. 2013. PMID: 23636926

5

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

6

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.

Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, Bruno DL, Tan TY, Tomkins S, Hastings R. Thomas NS, et al. Am J Med Genet A. 2009 Jul;149A(7):1407-14. doi: 10.1002/ajmg.a.32914. Am J Med Genet A. 2009. PMID: 19533800

7

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.

Bunyan DJ, Thomas NS. Bunyan DJ, et al. Among authors: thomas ns. Eur J Med Genet. 2019 Jul;62(7):103668. doi: 10.1016/j.ejmg.2019.05.007. Epub 2019 May 8. Eur J Med Genet. 2019. PMID: 31077882

8

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.

Mackay DJ, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston VJ, Thomas NS, Robinson DO, Shield JP, Clayton-Smith J, Temple IK. Mackay DJ, et al. Among authors: thomas ns. Hum Genet. 2006 Mar;119(1-2):179-84. doi: 10.1007/s00439-005-0127-4. Epub 2006 Jan 5. Hum Genet. 2006. PMID: 16402210

9

Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.

Cross E, Duncan-Flavell PJ, Howarth RJ, Hobbs JI, Thomas NS, Bunyan DJ. Cross E, et al. Among authors: thomas ns. Am J Med Genet A. 2020 Nov;182(11):2508-2520. doi: 10.1002/ajmg.a.61813. Epub 2020 Aug 21. Am J Med Genet A. 2020. PMID: 32827181

10

Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.

Cross E, Duncan-Flavell PJ, Howarth RJ, Crooks RO, Thomas NS, Bunyan DJ. Cross E, et al. Among authors: thomas ns. Eur J Med Genet. 2020 Jul;63(7):103940. doi: 10.1016/j.ejmg.2020.103940. Epub 2020 Apr 30. Eur J Med Genet. 2020. PMID: 32360764

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