Abuelo D - Search Results

1

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Guo DC, et al. Among authors: abuelo d. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994018

2

Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.

Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Chen H, Abuelo D, Dietz HC, Basson CT, Shete SS, Milewicz DM. Guo D, et al. Among authors: abuelo d. Circulation. 2001 May 22;103(20):2461-8. doi: 10.1161/01.cir.103.20.2461. Circulation. 2001. PMID: 11369686

3

Major congenital anomalies place extremely low birth weight infants at higher risk for poor growth and developmental outcomes.

Walden RV, Taylor SC, Hansen NI, Poole WK, Stoll BJ, Abuelo D, Vohr BR; National Institute of Child Health and Human Development Neonatal Research Network. Walden RV, et al. Among authors: abuelo d. Pediatrics. 2007 Dec;120(6):e1512-9. doi: 10.1542/peds.2007-0354. Epub 2007 Nov 5. Pediatrics. 2007. PMID: 17984212

4

De novo unbalanced translocations have a complex history/aetiology.

Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: abuelo dn. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.

5

Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients.

Marano RM, Mercurio L, Kanter R, Doyle R, Abuelo D, Morrow EM, Shur N. Marano RM, et al. Among authors: abuelo d. J Pediatr Genet. 2013 Mar;2(1):25-31. doi: 10.3233/PGE-13044. J Pediatr Genet. 2013. PMID: 27625836 Free PMC article.

6

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group. Rosenfeld JA, et al. Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8. Eur J Hum Genet. 2012. PMID: 22317977 Free PMC article.

7

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.

Sofos E, Pescosolido MF, Quintos JB, Abuelo D, Gunn S, Hovanes K, Morrow EM, Shur N. Sofos E, et al. Among authors: abuelo d. Am J Med Genet A. 2012 Jan;158A(1):50-8. doi: 10.1002/ajmg.a.34290. Epub 2011 Nov 3. Am J Med Genet A. 2012. PMID: 22052655

8

The role of new genetic technology in investigating autism and developmental delay.

Shur N, Gunn S, Feit L, Oh AK, Yatchmink Y, Abuelo D. Shur N, et al. Among authors: abuelo d. Med Health R I. 2011 May;94(5):131, 134-7. Med Health R I. 2011. PMID: 21710921 Review. No abstract available.

9

Genetic syndromes: from clinical suspicion to referral to diagnosis.

Shur N, Abuelo D. Shur N, et al. Among authors: abuelo d. Pediatr Ann. 2009 Aug;38(8):419-25. doi: 10.3928/00904481-20090723-04. Pediatr Ann. 2009. PMID: 19711879 Review. No abstract available.

10

Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.

Anderka MT, Lin AE, Abuelo DN, Mitchell AA, Rasmussen SA. Anderka MT, et al. Among authors: abuelo dn. Am J Med Genet A. 2009 Jun;149A(6):1241-8. doi: 10.1002/ajmg.a.32685. Am J Med Genet A. 2009. PMID: 19441125 Review.

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