Abuelo D - Search Results

1

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. Sagen JV, et al. Among authors: abuelo d. Diabetes. 2004 Oct;53(10):2713-8. doi: 10.2337/diabetes.53.10.2713. Diabetes. 2004. PMID: 15448106

2

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. Hucthagowder V, et al. Among authors: abuelo dn. Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25. Hum Mol Genet. 2009. PMID: 19321599 Free PMC article.

3

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.

4

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.

5

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.

6

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

7

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.

8

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.

9

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.

10

Clinical significance of chimerism.

Abuelo D. Abuelo D. Am J Med Genet C Semin Med Genet. 2009 May 15;151C(2):148-51. doi: 10.1002/ajmg.c.30213. Am J Med Genet C Semin Med Genet. 2009. PMID: 19378333 Review.

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