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Items: 1 to 20 of 78

1.

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.

J Pediatr Genet. 2013 Mar;2(1):25-31. doi: 10.3233/PGE-13044.

2.

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.

Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.

3.

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.

Am J Med Genet A. 2012 Jan;158A(1):50-8. doi: 10.1002/ajmg.a.34290. Epub 2011 Nov 3.

PMID:
22052655
4.

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

Shur N, Gunn S, Feit L, Oh AK, Yatchmink Y, Abuelo D.

Med Health R I. 2011 May;94(5):131, 134-7. Review. No abstract available.

PMID:
21710921
5.

Genetic syndromes: from clinical suspicion to referral to diagnosis.

Shur N, Abuelo D.

Pediatr Ann. 2009 Aug;38(8):419-25. doi: 10.3928/00904481-20090723-04. Review. No abstract available.

PMID:
19711879
6.

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.

Am J Med Genet A. 2009 Jun;149A(6):1241-8. doi: 10.1002/ajmg.a.32685. Review.

PMID:
19441125
7.

Clinical significance of chimerism.

Abuelo D.

Am J Med Genet C Semin Med Genet. 2009 May 15;151C(2):148-51. doi: 10.1002/ajmg.c.30213. Review.

PMID:
19378333
8.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z.

Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25.

9.

A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.

Kochilas L, Gundogan F, Atalay M, Bliss JM, Vatta M, Pena LS, Abuelo D.

J Perinatol. 2008 Apr;28(4):303-5. doi: 10.1038/sj.jp.7211915.

PMID:
18379569
10.

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.

Nat Genet. 2007 Dec;39(12):1488-93. Epub 2007 Nov 11. Erratum in: Nat Genet. 2008 Feb;40(2):255.

PMID:
17994018
11.

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.

Pediatrics. 2007 Dec;120(6):e1512-9. Epub 2007 Nov 5.

PMID:
17984212
12.

Microcephaly syndromes.

Abuelo D.

Semin Pediatr Neurol. 2007 Sep;14(3):118-27. Review.

PMID:
17980308
13.

Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22.

Kochilas LK, Abuelo DN, Tantravahi U.

Pediatr Cardiol. 2008 Jan;29(1):172-5. Epub 2007 Aug 4.

PMID:
17676371
14.

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.

Pediatrics. 2006 Dec;118(6):e1687-95. Epub 2006 Nov 6.

PMID:
17088400
15.

Pigmentary mosaicism and mosaic Turner syndrome.

Capaldi L, Gray J, Abuelo D, Torrelo A, Nieto J, Lapidus C, Robinson-Bostom L.

J Am Acad Dermatol. 2005 May;52(5):918-9. No abstract available.

PMID:
15858494
16.

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR.

Diabetes. 2004 Oct;53(10):2713-8.

17.

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB.

Hum Mutat. 2004 Feb;23(2):147-59.

PMID:
14722918
18.

Adolescents and genetic testing: what do they think about it?

Harel A, Abuelo D, Kazura A.

J Adolesc Health. 2003 Dec;33(6):489-94.

PMID:
14642711
19.

Genetic evaluation and counseling for craniofacial anomalies.

Abuelo D.

Med Health R I. 2002 Dec;85(12):373-8. Review. No abstract available.

PMID:
12593356
20.

Impact of genetic diseases in Rhode Island.

Abuelo D.

Med Health R I. 2002 Dec;85(12):360-1. No abstract available.

PMID:
12593352

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