Hofherr S - Search Results

1

Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.

Bai R, Cui H, Devaney JM, Allis KM, Balog AM, Liu X, Schnur RE, Shapiro FL, Brautbar A, Estrada-Veras JI, Hochstetler L, McConkie-Rosell A, McDonald MT, Solomon BD, Hofherr S, Richard G, Suchy SF. Bai R, et al. Among authors: hofherr s. Genet Med. 2021 Aug;23(8):1514-1521. doi: 10.1038/s41436-021-01166-1. Epub 2021 Apr 12. Genet Med. 2021. PMID: 33846581 Free article.

2

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

Ferreira CR, Devaney JM, Hofherr SE, Pollard LM, Cusmano-Ozog K. Ferreira CR, et al. Among authors: hofherr se. Am J Med Genet A. 2017 Feb;173(2):501-509. doi: 10.1002/ajmg.a.38023. Epub 2016 Oct 31. Am J Med Genet A. 2017. PMID: 27797444 Free PMC article. Review.

3

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Weinstein V, Tanpaiboon P, Chapman KA, Ah Mew N, Hofherr S. Weinstein V, et al. Among authors: hofherr s. Genet Med. 2017 Dec;19(12):1317-1322. doi: 10.1038/gim.2017.64. Epub 2017 May 25. Genet Med. 2017. PMID: 28541279 Free PMC article.

4

Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.

Ward DI, Buckley BA, Leon E, Diaz J, Galegos MF, Hofherr S, Lewanda AF. Ward DI, et al. Among authors: hofherr s. Am J Med Genet A. 2018 Mar;176(3):551-559. doi: 10.1002/ajmg.a.38524. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341460 Free PMC article.

5

A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation.

Ho CY, Mobley BC, Gordish-Dressman H, VandenBussche CJ, Mason GE, Bornhorst M, Esbenshade AJ, Tehrani M, Orr BA, LaFrance DR, Devaney JM, Meltzer BW, Hofherr SE, Burger PC, Packer RJ, Rodriguez FJ. Ho CY, et al. Acta Neuropathol. 2015 Oct;130(4):575-85. doi: 10.1007/s00401-015-1467-3. Epub 2015 Aug 12. Acta Neuropathol. 2015. PMID: 26264609

6

What is in the can? The dilemma with dietary supplements.

D'Aco K, Mooney R, Cusmano-Ozog K, Hofherr S, Lichter-Konecki U. D'Aco K, et al. Among authors: hofherr s. Mol Genet Metab. 2014 Dec;113(4):239-40. doi: 10.1016/j.ymgme.2014.10.009. Epub 2014 Oct 22. Mol Genet Metab. 2014. PMID: 25453401 No abstract available.

7

Time-dependent negative bias in plasma ammonia samples in a clinical setting.

Ayyub OB, Hofherr S, Cusmano-Ozog K, Ah Mew N. Ayyub OB, et al. Among authors: hofherr s. Clin Chim Acta. 2017 Aug;471:126-127. doi: 10.1016/j.cca.2017.05.011. Epub 2017 May 10. Clin Chim Acta. 2017. PMID: 28595139 No abstract available.

8

Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication.

Salem B, Hofherr S, Turner J, Doros L, Smpokou P. Salem B, et al. Among authors: hofherr s. J Pediatr Hematol Oncol. 2016 Nov;38(8):e278-e282. doi: 10.1097/MPH.0000000000000566. J Pediatr Hematol Oncol. 2016. PMID: 27258033

9

Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.

Hofherr SE, Wiktor AE, Kipp BR, Dawson DB, Van Dyke DL. Hofherr SE, et al. J Assist Reprod Genet. 2011 Nov;28(11):1091-8. doi: 10.1007/s10815-011-9633-6. Epub 2011 Sep 13. J Assist Reprod Genet. 2011. PMID: 21912980 Free PMC article.

10

Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences.

Magge SN, Snyder K, Sajja A, DeFreitas TA, Hofherr SE, Broth RE, Keating RF, Rogers GF. Magge SN, et al. Among authors: hofherr se. J Craniofac Surg. 2017 Jan;28(1):14-16. doi: 10.1097/SCS.0000000000003368. J Craniofac Surg. 2017. PMID: 28060197

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