Markello TC - Search Results

1

NT5E mutations and arterial calcifications.

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. St Hilaire C, et al. Among authors: markello tc. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923. N Engl J Med. 2011. PMID: 21288095 Free PMC article.

2

Effect of growth hormone treatment on serum creatinine concentration in patients with cystinosis and chronic renal disease.

Andersson HC, Markello T, Schneider JA, Gahl WA. Andersson HC, et al. J Pediatr. 1992 May;120(5):716-20. doi: 10.1016/s0022-3476(05)80233-1. J Pediatr. 1992. PMID: 1578305

3

High-performance liquid chromatography of lipids for the identification of human metabolic disease.

Markello TC, Guo J, Gahl WA. Markello TC, et al. Anal Biochem. 1991 Nov 1;198(2):368-74. doi: 10.1016/0003-2697(91)90441-u. Anal Biochem. 1991. PMID: 1799224

4

Swallowing dysfunction in nephropathic cystinosis.

Sonies BC, Ekman EF, Andersson HC, Adamson MD, Kaler SG, Markello TC, Gahl WA. Sonies BC, et al. Among authors: markello tc. N Engl J Med. 1990 Aug 30;323(9):565-70. doi: 10.1056/NEJM199008303230903. N Engl J Med. 1990. PMID: 2381441 Free article.

5

Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.

Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: markello tc. Am J Ophthalmol. 1994 Nov 15;118(5):569-82. doi: 10.1016/s0002-9394(14)76572-9. Am J Ophthalmol. 1994. PMID: 7977570

6

Improved renal function in children with cystinosis treated with cysteamine.

Markello TC, Bernardini IM, Gahl WA. Markello TC, et al. N Engl J Med. 1993 Apr 22;328(16):1157-62. doi: 10.1056/NEJM199304223281604. N Engl J Med. 1993. PMID: 8455682 Free article.

7

The metabolism of fatty acids in human Bietti crystalline dystrophy.

Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, Guo J, Chader GJ. Lee J, et al. Among authors: markello tc. Invest Ophthalmol Vis Sci. 2001 Jul;42(8):1707-14. Invest Ophthalmol Vis Sci. 2001. PMID: 11431432

8

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Rouhani FN, Brantly ML, Markello TC, Helip-Wooley A, O'Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR. Rouhani FN, et al. Among authors: markello tc. Am J Respir Crit Care Med. 2009 Dec 1;180(11):1114-21. doi: 10.1164/rccm.200901-0023OC. Epub 2009 Sep 3. Am J Respir Crit Care Med. 2009. PMID: 19729668 Free PMC article.

9

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M. Manoli I, et al. Among authors: markello tc. Am J Med Genet A. 2010 Jun;152A(6):1474-83. doi: 10.1002/ajmg.a.33389. Am J Med Genet A. 2010. PMID: 20503323 Free PMC article.

10

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M. Vincent LM, et al. Among authors: markello tc. Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015. Epub 2010 Jun 10. Mol Genet Metab. 2010. PMID: 20591709 Free PMC article.

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