Jefferies JL - Search Results

1

Cardiovascular findings in duplication 17p11.2 syndrome.

Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Jefferies JL, et al. Genet Med. 2012 Jan;14(1):90-4. doi: 10.1038/gim.0b013e3182329723. Epub 2011 Oct 17. Genet Med. 2012. PMID: 22237436 Free PMC article.

2

Left ventricular non-compaction cardiomyopathy in children: characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxation.

McMahon CJ, Pignatelli RH, Nagueh SF, Lee VV, Vaughn W, Valdes SO, Kovalchin JP, Jefferies JL, Dreyer WJ, Denfield SW, Clunie S, Towbin JA, Eidem BW. McMahon CJ, et al. Among authors: jefferies jl. Heart. 2007 Jun;93(6):676-81. doi: 10.1136/hrt.2006.093880. Epub 2006 Nov 29. Heart. 2007. PMID: 17135224 Free PMC article.

3

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.

Jefferies JL, Belmont JW, Pignatelli R, Towbin JA, Craigen WJ. Jefferies JL, et al. Pediatr Cardiol. 2010 Jan;31(1):114-6. doi: 10.1007/s00246-009-9537-8. Epub 2009 Oct 1. Pediatr Cardiol. 2010. PMID: 19795160

4

Genetic disorders with both hearing loss and cardiovascular abnormalities.

Belmont JW, Craigen W, Martinez H, Jefferies JL. Belmont JW, et al. Among authors: jefferies jl. Adv Otorhinolaryngol. 2011;70:66-74. doi: 10.1159/000322474. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358187 Review.

5

Dilation of the aortic root in mitochondrial disease patients.

Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Brunetti-Pierri N, et al. Among authors: jefferies jl. Mol Genet Metab. 2011 Jun;103(2):167-70. doi: 10.1016/j.ymgme.2011.02.007. Epub 2011 Feb 18. Mol Genet Metab. 2011. PMID: 21406331

6

Left ventricular noncompaction in Sotos syndrome.

Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL. Martinez HR, et al. Among authors: jefferies jl. Am J Med Genet A. 2011 May;155A(5):1115-8. doi: 10.1002/ajmg.a.33838. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484993

7

Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion.

Blinder JJ, Martinez HR, Craigen WJ, Belmont J, Pignatelli RH, Jefferies JL. Blinder JJ, et al. Among authors: jefferies jl. Am J Med Genet A. 2011 Sep;155A(9):2215-20. doi: 10.1002/ajmg.a.34129. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834050

8

Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.

Martinez HR, Niu MC, Sutton VR, Pignatelli R, Vatta M, Jefferies JL. Martinez HR, et al. Among authors: jefferies jl. Am J Med Genet A. 2011 Dec;155A(12):3030-4. doi: 10.1002/ajmg.a.33856. Epub 2011 Oct 18. Am J Med Genet A. 2011. PMID: 22009732

9

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Martinez HR, Pignatelli R, Belmont JW, Craigen WJ, Jefferies JL. Martinez HR, et al. Among authors: jefferies jl. Am J Med Genet A. 2011 Dec;155A(12):3025-9. doi: 10.1002/ajmg.a.33784. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052614

10

Two-dimensional speckle strain imaging: in the management of paraganglioma, acute junctional tachycardia, and myocardial dysfunction in a child.

Pignatelli R, Law MA, Martinez H, Altman C, Ayres N, Jefferies JL, Ganame J. Pignatelli R, et al. Among authors: jefferies jl. Tex Heart Inst J. 2012;39(1):119-21. Tex Heart Inst J. 2012. PMID: 22412245 Free PMC article.

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