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Items: 9

1.

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.

Atkins AE, Tarini BA, Phillips EK, Calhoun ARUL.

J Community Genet. 2019 Feb 5. doi: 10.1007/s12687-019-00409-8. [Epub ahead of print]

PMID:
30721391
2.

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.

Battaglia A, Calhoun ARUL, Lortz A, Carey JC.

Am J Med Genet A. 2018 Nov;176(11):2389-2394. doi: 10.1002/ajmg.a.40469. Epub 2018 Oct 5.

PMID:
30289612
3.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.

PMID:
29436146
4.

Chronic combined hyperandrogenemia and western-style diet in young female rhesus macaques causes greater metabolic impairments compared to either treatment alone.

True CA, Takahashi DL, Burns SE, Mishler EC, Bond KR, Wilcox MC, Calhoun AR, Bader LA, Dean TA, Ryan ND, Slayden OD, Cameron JL, Stouffer RL.

Hum Reprod. 2017 Sep 1;32(9):1880-1891. doi: 10.1093/humrep/dex246.

5.

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH; DDD Study, Bejerano G, Bernstein JA, Chitayat D.

J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13.

6.

Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.

Calhoun AR, Raymond GV.

Am J Med Genet A. 2014 Oct;164A(10):2613-7. doi: 10.1002/ajmg.a.36661. Epub 2014 Jul 9.

PMID:
25044748
7.

Academia, advocacy, and industry: a collaborative method for clinical research advancement.

Vanzo RJ, Lortz A, Calhoun AR, Carey JC.

Am J Med Genet A. 2014 Jul;164A(7):1619-21. doi: 10.1002/ajmg.a.36509. Epub 2014 Apr 3.

PMID:
24700599
8.

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

Calhoun AR, Bollo RJ, Garber ST, McDonald J, Stevenson DA, Hung IH, Brockmeyer DL, Walker ML.

J Neurosurg Pediatr. 2012 Jun;9(6):654-9. doi: 10.3171/2012.2.PEDS11446.

PMID:
22656258
9.

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