Dunwoodie SL - Search Results

1

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A. van de Putte R, et al. Among authors: dunwoodie sl. Front Pediatr. 2020 Jun 23;8:310. doi: 10.3389/fped.2020.00310. eCollection 2020. Front Pediatr. 2020. PMID: 32656166 Free PMC article.

2

Remembering Rosa Beddington--a tribute from her friends and colleagues.

Goetinck PF, Papaionnou G, Rossant J, Tam P, Anderson K, Hastie N, Soriano P, Bullock S, Rodriguez T, Dunwoodie S, Wilson V, Thomas P, Conlon F, Pevney L. Goetinck PF, et al. Dev Dyn. 2002 Jan;223(1):3-11. doi: 10.1002/dvdy.10053. Dev Dyn. 2002. PMID: 11803565 Free article. No abstract available.

3

Transcriptional activating activity of Smad4: roles of SMAD hetero-oligomerization and enhancement by an associating transactivator.

Shioda T, Lechleider RJ, Dunwoodie SL, Li H, Yahata T, de Caestecker MP, Fenner MH, Roberts AB, Isselbacher KJ. Shioda T, et al. Among authors: dunwoodie sl. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9785-90. doi: 10.1073/pnas.95.17.9785. Proc Natl Acad Sci U S A. 1998. PMID: 9707553 Free PMC article.

4

Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression.

Raetzman LT, Ross SA, Cook S, Dunwoodie SL, Camper SA, Thomas PQ. Raetzman LT, et al. Among authors: dunwoodie sl. Dev Biol. 2004 Jan 15;265(2):329-40. doi: 10.1016/j.ydbio.2003.09.033. Dev Biol. 2004. PMID: 14732396 Free article.

5

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. Turnpenny PD, et al. J Med Genet. 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. J Med Genet. 2003. PMID: 12746394 Free PMC article.

6

Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.

Ip EKK, Troup M, Xu C, Winlaw DS, Dunwoodie SL, Giannoulatou E. Ip EKK, et al. Among authors: dunwoodie sl. Front Genet. 2022 Mar 8;13:692257. doi: 10.3389/fgene.2022.692257. eCollection 2022. Front Genet. 2022. PMID: 35350246 Free PMC article.

7

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

Blue GM, Kirk EP, Giannoulatou E, Sholler GF, Dunwoodie SL, Harvey RP, Winlaw DS. Blue GM, et al. Among authors: dunwoodie sl. J Am Coll Cardiol. 2017 Feb 21;69(7):859-870. doi: 10.1016/j.jacc.2016.11.060. J Am Coll Cardiol. 2017. PMID: 28209227 Free article. Review.

8

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL. Sparrow DB, et al. Among authors: dunwoodie sl. Hum Mol Genet. 2013 Apr 15;22(8):1625-31. doi: 10.1093/hmg/ddt012. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335591

9

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.

Alankarage D, Szot JO, Pachter N, Slavotinek A, Selleri L, Shieh JT, Winlaw D, Giannoulatou E, Chapman G, Dunwoodie SL. Alankarage D, et al. Among authors: dunwoodie sl. Hum Mol Genet. 2020 May 8;29(7):1068-1082. doi: 10.1093/hmg/ddz231. Hum Mol Genet. 2020. PMID: 31625560 Free PMC article.

10

Breaking symmetry: a clinical overview of left-right patterning.

Maclean K, Dunwoodie SL. Maclean K, et al. Among authors: dunwoodie sl. Clin Genet. 2004 Jun;65(6):441-57. doi: 10.1111/j.0009-9163.2004.00258.x. Clin Genet. 2004. PMID: 15151499 Review.

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