Zinn AB - Search Results

1

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. Schillaci LA, et al. Among authors: zinn ab. Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1. Mol Genet Metab. 2016. PMID: 27397597

2

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M; Urea Cycle Disorders Consortium. Gropman AL, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):21-30. doi: 10.1016/j.ymgme.2008.06.003. Epub 2008 Jul 26. Mol Genet Metab. 2008. PMID: 18662894 Free PMC article.

3

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

Zinn AB, Kerr DS, Hoppel CL. Zinn AB, et al. N Engl J Med. 1986 Aug 21;315(8):469-75. doi: 10.1056/NEJM198608213150801. N Engl J Med. 1986. PMID: 3736629

4

Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.

Depinet TW, Zackowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, Zinn AB, Schwartz S. Depinet TW, et al. Among authors: zinn ab. Hum Mol Genet. 1997 Aug;6(8):1195-204. doi: 10.1093/hmg/6.8.1195. Hum Mol Genet. 1997. PMID: 9259264

5

Enamel defects: a developmental marker for hemifacial microsomia.

Johnsen DC, Weissman BM, Murray GS, Zinn AB. Johnsen DC, et al. Among authors: zinn ab. Am J Med Genet. 1990 Aug;36(4):444-8. doi: 10.1002/ajmg.1320360414. Am J Med Genet. 1990. PMID: 2389801

6

Distal deletion of the short arm of chromosome 6.

Zurcher VL, Golden WL, Zinn AB. Zurcher VL, et al. Among authors: zinn ab. Am J Med Genet. 1990 Feb;35(2):261-5. doi: 10.1002/ajmg.1320350223. Am J Med Genet. 1990. PMID: 2309766

7

The need for anonymous genetic counseling and testing.

Mehlman MJ, Kodish ED, Whitehouse P, Zinn AB, Sollitto S, Berger J, Chiao EJ, Dosick MS, Cassidy SB. Mehlman MJ, et al. Among authors: zinn ab. Am J Hum Genet. 1996 Feb;58(2):393-7. Am J Hum Genet. 1996. PMID: 8571966 Free PMC article.

8

Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature.

Schwartz S, Depinet TW, Leana-Cox J, Isada NB, Karson EM, Park VM, Pasztor LM, Sheppard LC, Stallard R, Wolff DJ, Zinn AB, Zurcher VL, Zackowski JL. Schwartz S, et al. Among authors: zinn ab. Am J Med Genet. 1997 Jul 11;71(1):1-7. doi: 10.1002/(sici)1096-8628(19970711)71:1<1::aid-ajmg1>3.0.co;2-1. Am J Med Genet. 1997. PMID: 9215760 Review.

9

Characterization of a familial balanced rec(13) in a child with mild MR and his half-sibling with two structurally rearranged chromosomes 13.

Mehra S, Christ L, Jeng L, Zinn AB, Schwartz S. Mehra S, et al. Among authors: zinn ab. Am J Med Genet A. 2005 Aug 30;137(2):217-21. doi: 10.1002/ajmg.a.30866. Am J Med Genet A. 2005. PMID: 16059944 Review.

10

A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease.

Riley D, Wiznitzer M, Schwartz S, Zinn AB. Riley D, et al. Among authors: zinn ab. Neurology. 2001 Jul 10;57(1):141-3. doi: 10.1212/wnl.57.1.141. Neurology. 2001. PMID: 11445646

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