Betts DR - Search Results

1

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.

McMahon CJ, Breathnach C, Betts DR, Sharkey FH, Greally MT. McMahon CJ, et al. Among authors: betts dr. Am J Med Genet A. 2015 May;167A(5):1134-41. doi: 10.1002/ajmg.a.36978. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25810372

2

Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion.

Foley R, Duignan S, McArdle L, Betts DR, Green A, McMahon CJ. Foley R, et al. Among authors: betts dr. Cardiol Young. 2022 May;32(5):821-823. doi: 10.1017/S1047951121003826. Epub 2021 Sep 15. Cardiol Young. 2022. PMID: 34521483

3

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

O'Byrne JJ, Ryan H, Murray DJ, Regan R, Betts DR, Murphy N, Casey JP, Lynch SA. O'Byrne JJ, et al. Among authors: betts dr. Am J Med Genet A. 2017 Jan;173(1):274-279. doi: 10.1002/ajmg.a.38001. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774767

4

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

Casey JP, Goggin P, McDaid J, White M, Ennis S, Betts DR, Lucas JS, Elnazir B, Lynch SA. Casey JP, et al. Among authors: betts dr. BMC Med Genet. 2015 Jun 30;16:45. doi: 10.1186/s12881-015-0192-z. BMC Med Genet. 2015. PMID: 26123568 Free PMC article.

5

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

Seoighe DM, Gadancheva V, Regan R, McDaid J, Brenner C, Ennis S, Betts DR, Eadie PA, Lynch SA. Seoighe DM, et al. Among authors: betts dr. Am J Med Genet A. 2014 Nov;164A(11):2958-60. doi: 10.1002/ajmg.a.36712. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25124102 No abstract available.

6

Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding.

Al-Shehhi M, Betts D, Mc Ardle L, Donoghue V, Reardon W. Al-Shehhi M, et al. Clin Dysmorphol. 2016 Jan;25(1):23-6. doi: 10.1097/MCD.0000000000000102. Clin Dysmorphol. 2016. PMID: 26426104 No abstract available.

7

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.

O'Byrne JJ, Lynch SA, Treacy EP, King MD, Betts DR, Mayne PD, Sharif F. O'Byrne JJ, et al. Among authors: betts dr. Ir J Med Sci. 2016 Feb;185(1):241-8. doi: 10.1007/s11845-015-1284-7. Epub 2015 Apr 21. Ir J Med Sci. 2016. PMID: 25894277 Review.

8

High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcoma.

Lynn M, Wang Y, Slater J, Shah N, Conroy J, Ennis S, Morris T, Betts DR, Fletcher JA, O'Sullivan MJ. Lynn M, et al. Among authors: betts dr. Diagn Mol Pathol. 2013 Jun;22(2):76-84. doi: 10.1097/PDM.0b013e31827a47f9. Diagn Mol Pathol. 2013. PMID: 23628818

9

Vocal cord paralysis in association with 9q34 duplication.

Gadancheva VG, Casey JP, Russell JD, McDaid J, Betts DR, Lynch SA. Gadancheva VG, et al. Among authors: betts dr. Clin Dysmorphol. 2014 Jul;23(3):105-108. doi: 10.1097/MCD.0000000000000040. Clin Dysmorphol. 2014. PMID: 24859494 No abstract available.

10

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.

Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA. Al Shehhi M, et al. Among authors: betts dr. Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031152

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