Feigenbaum A - Search Results

1

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ. Feigenbaum A, et al. Am J Med Genet A. 2006 Oct 15;140(20):2216-22. doi: 10.1002/ajmg.a.31436. Am J Med Genet A. 2006. PMID: 16955414

2

Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.

Patel MS, Callahan JW, Zhang S, Chan AK, Unger S, Levin AV, Skomorowski MA, Feigenbaum AS, O'Brien K, Hellmann J, Ryan G, Velsher L, Chitayat D. Patel MS, et al. Among authors: feigenbaum as. Am J Med Genet. 1999 Jul 2;85(1):38-47. Am J Med Genet. 1999. PMID: 10377011

3

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.

Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL. Feigenbaum A, et al. Am J Med Genet A. 2004 Jan 15;124A(2):142-7. doi: 10.1002/ajmg.a.20334. Am J Med Genet A. 2004. PMID: 14699612

4

A six-month-old infant with liver steatosis.

Stormon MO, Cutz E, Furuya K, Bedford M, Yerkes L, Tolan DR, Feigenbaum A. Stormon MO, et al. Among authors: feigenbaum a. J Pediatr. 2004 Feb;144(2):258-63. doi: 10.1016/j.jpeds.2003.11.037. J Pediatr. 2004. PMID: 14760272 Free PMC article. No abstract available.

5

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.

Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA. Tadiboyina VT, et al. Among authors: feigenbaum a. Am J Med Genet A. 2005 Jun 15;135(3):289-91. doi: 10.1002/ajmg.a.30748. Am J Med Genet A. 2005. PMID: 15887277

6

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. Cameron JM, et al. Among authors: feigenbaum a. Am J Med Genet A. 2006 Jul 15;140(14):1542-52. doi: 10.1002/ajmg.a.31313. Am J Med Genet A. 2006. PMID: 16770810

7

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.

Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Scaglia F, et al. Among authors: feigenbaum a. Genet Med. 2006 Oct;8(10):641-52. doi: 10.1097/01.gim.0000237781.10594.d1. Genet Med. 2006. PMID: 17079881 Free article.

8

Late-onset cobalamin-C disorder: a challenging diagnosis.

Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. Ben-Omran TI, et al. Among authors: feigenbaum a. Am J Med Genet A. 2007 May 1;143A(9):979-84. doi: 10.1002/ajmg.a.31671. Am J Med Genet A. 2007. PMID: 17431913

9

Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM, Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS. Werner KG, et al. Among authors: feigenbaum as. Pediatr Neurol. 2009 Jul;41(1):27-33. doi: 10.1016/j.pediatrneurol.2009.02.010. Pediatr Neurol. 2009. PMID: 19520270

10

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.

Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. Koifman A, et al. Among authors: feigenbaum a. Am J Med Genet A. 2010 May;152A(5):1268-72. doi: 10.1002/ajmg.a.33319. Am J Med Genet A. 2010. PMID: 20425834

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