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Items: 11

1.

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.

Berberich AJ, Mokashi A, McIntyre AD, Robinson JF, Cao H, Wang J, Hegele RA.

Clin Genet. 2019 Oct;96(4):376-377. doi: 10.1111/cge.13599. Epub 2019 Jul 15. No abstract available.

PMID:
31309534
2.

Conservative management in hypertriglyceridemia-associated pancreatitis.

Berberich AJ, Ziada A, Zou GY, Hegele RA.

J Intern Med. 2019 Dec;286(6):644-650. doi: 10.1111/joim.12925. Epub 2019 Jun 6.

PMID:
31077464
3.

Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young.

Berberich AJ, Huot C, Cao H, McIntyre AD, Robinson JF, Wang J, Hegele RA.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3428-3436. doi: 10.1210/jc.2018-02574.

PMID:
30912798
4.

The role of genetic testing in dyslipidaemia.

Berberich AJ, Hegele RA.

Pathology. 2019 Feb;51(2):184-192. doi: 10.1016/j.pathol.2018.10.014. Epub 2018 Dec 14. Review.

5.

The complex molecular genetics of familial hypercholesterolaemia.

Berberich AJ, Hegele RA.

Nat Rev Cardiol. 2019 Jan;16(1):9-20. doi: 10.1038/s41569-018-0052-6. Review.

PMID:
29973710
6.

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.

Dron JS, Wang J, Berberich AJ, Iacocca MA, Cao H, Yang P, Knoll J, Tremblay K, Brisson D, Netzer C, Gouni-Berthold I, Gaudet D, Hegele RA.

J Lipid Res. 2018 Aug;59(8):1529-1535. doi: 10.1194/jlr.P086280. Epub 2018 Jun 4.

7.

Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.

Hegele RA, Berberich AJ, Ban MR, Wang J, Digenio A, Alexander VJ, D'Erasmo L, Arca M, Jones A, Bruckert E, Stroes ES, Bergeron J, Civeira F, Witztum JL, Gaudet D.

J Clin Lipidol. 2018 Jul - Aug;12(4):920-927.e4. doi: 10.1016/j.jacl.2018.03.093. Epub 2018 Apr 4.

8.

Whole genome sequencing in the clinic: empowerment or too much information?

Berberich AJ, Ho R, Hegele RA.

CMAJ. 2018 Feb 5;190(5):E124-E125. doi: 10.1503/cmaj.180076. No abstract available.

9.

Secondary causes of chylomicronemia: defining the underside of the iceberg.

Berberich AJ, Hegele RA.

J Intern Med. 2018 Apr;283(4):405-407. doi: 10.1111/joim.12727. Epub 2018 Feb 2. No abstract available.

PMID:
29392780
10.

Nutraceuticals in 2017: Nutraceuticals in endocrine disorders.

Berberich AJ, Hegele RA.

Nat Rev Endocrinol. 2018 Feb;14(2):68-70. doi: 10.1038/nrendo.2017.169. Epub 2017 Dec 22. Review. No abstract available.

PMID:
29286047
11.

Lomitapide for the treatment of hypercholesterolemia.

Berberich AJ, Hegele RA.

Expert Opin Pharmacother. 2017 Aug;18(12):1261-1268. doi: 10.1080/14656566.2017.1340941. Epub 2017 Jul 30. Review.

PMID:
28598687

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