Ernst A - Search Results

1

A Danish national effort of BRCA1/2 variant classification.

Pedersen IS, Schmidt AY, Bertelsen B, Ernst A, Andersen CLT, Kruse T, Rossing M, Thomassen M. Pedersen IS, et al. Among authors: ernst a. Acta Oncol. 2018 Jan;57(1):159-162. doi: 10.1080/0284186X.2017.1400693. Epub 2017 Nov 23. Acta Oncol. 2018. PMID: 29168416 No abstract available.

2

Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population.

Ernst A, Jacobsen B, Østergaard M, Okkels H, Andersen V, Dagiliene E, Pedersen IS, Thorsgaard N, Drewes AM, Krarup HB. Ernst A, et al. Scand J Gastroenterol. 2007 Dec;42(12):1445-51. doi: 10.1080/00365520701427102. Scand J Gastroenterol. 2007. PMID: 17852840

3

Genetic variants of glutathione S-transferases mu, theta, and pi display no susceptibility to inflammatory bowel disease in the Danish population.

Ernst A, Andersen V, Østergaard M, Jacobsen BA, Dagiliene E, Pedersen IS, Drewes AM, Okkels H, Krarup HB. Ernst A, et al. Scand J Gastroenterol. 2010 Sep;45(9):1068-75. doi: 10.3109/00365521.2010.490594. Scand J Gastroenterol. 2010. PMID: 20459366

4

Common polymorphisms in the microsomal epoxide hydrolase and N-acetyltransferase 2 genes in association with inflammatory bowel disease in the Danish population.

Ernst A, Andersen V, Ostergaard M, Jacobsen BA, Pedersen IS, Drewes AM, Okkels H, Krarup HB. Ernst A, et al. Eur J Gastroenterol Hepatol. 2011 Mar;23(3):269-74. doi: 10.1097/MEG.0b013e3283438a44. Eur J Gastroenterol Hepatol. 2011. PMID: 21228703

5

ECEL1 mutation causes fetal arthrogryposis multiplex congenita.

Dohrn N, Le VQ, Petersen A, Skovbo P, Pedersen IS, Ernst A, Krarup H, Petersen MB. Dohrn N, et al. Among authors: ernst a. Am J Med Genet A. 2015 Apr;167A(4):731-43. doi: 10.1002/ajmg.a.37018. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708584

6

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.

Ernst A, Le VQ, Højland AT, Pedersen IS, Sørensen TH, Bjerregaard LL, Lyngbye TJ, Gammelager NM, Krarup H, Petersen MB. Ernst A, et al. Mol Syndromol. 2015 Oct;6(4):181-6. doi: 10.1159/000441047. Epub 2015 Sep 29. Mol Syndromol. 2015. PMID: 26648834 Free PMC article.

7

De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.

Lundsgaard M, Le VQ, Ernst A, Laugaard-Jacobsen HC, Rasmussen K, Pedersen IS, Petersen MB. Lundsgaard M, et al. Among authors: ernst a. Mol Syndromol. 2017 Jan;8(1):24-29. doi: 10.1159/000452258. Epub 2016 Nov 5. Mol Syndromol. 2017. PMID: 28232779 Free PMC article.

8

Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene.

Brix N, Jensen JM, Pedersen IS, Ernst A, Frost S, Bogaard P, Petersen MB, Bender L. Brix N, et al. Among authors: ernst a. Neonatology. 2019;116(3):290-294. doi: 10.1159/000499488. Epub 2019 Jul 26. Neonatology. 2019. PMID: 31352446

9

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.

Herlin MK, Le VQ, Højland AT, Ernst A, Okkels H, Petersen AC, Petersen MB, Pedersen IS. Herlin MK, et al. Among authors: ernst a. Hum Reprod. 2019 Sep 29;34(9):1838-1846. doi: 10.1093/humrep/dez126. Hum Reprod. 2019. PMID: 31424080

10

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Toft CLF, Ingerslev HJ, Kesmodel US, Diemer T, Degn B, Ernst A, Okkels H, Kjartansdóttir KR, Pedersen IS. Toft CLF, et al. Among authors: ernst a. Acta Obstet Gynecol Scand. 2020 Jun;99(6):696-706. doi: 10.1111/aogs.13823. Epub 2020 Mar 13. Acta Obstet Gynecol Scand. 2020. PMID: 32039470 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,241 results

Search Page