Publications by authors named "Marie T Greally"

10Publications

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

Am J Med Genet A 2015 May 21;167A(5):1134-41. Epub 2015 Mar 21.

Department of Pediatric Cardiology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.36978DOI Listing
May 2015

De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?

Am J Med Genet A 2014 Dec 26;164A(12):3194-202. Epub 2014 Sep 26.

National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.36786DOI Listing
December 2014

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Am J Med Genet A 2014 May 29;164A(5):1245-53. Epub 2014 Jan 29.

National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland; Bahrain Defence Forces Hospital, Department of Paediatric Cardiology, Riffa, Kingdom of Bahrain.

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http://dx.doi.org/10.1002/ajmg.a.36411DOI Listing
May 2014

Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries.

Cardiol Young 2015 Jan 22;25(1):167-70. Epub 2014 Jan 22.

2National Centre for Medical Genetics,Our Lady's Children's Hospital,Crumlin,Dublin,Ireland.

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http://dx.doi.org/10.1017/S104795111300231XDOI Listing
January 2015