Pepin MG[au] - Search Results

Year	Number of Results
1984	1
1985	1
1995	1
2001	1
2002	1
2008	1
2010	1
2011	3
2013	2
2014	2
2015	3
2016	1
2017	2
2018	2
2024	0

1

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Pepin MG, et al. Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12. Genet Med. 2014. PMID: 24922459 Free article.

2

Reevaluation of Russell-Silver syndrome.

Saal HM, Pagon RA, Pepin MG. Saal HM, et al. Among authors: pepin mg. J Pediatr. 1985 Nov;107(5):733-7. doi: 10.1016/s0022-3476(85)80402-9. J Pediatr. 1985. PMID: 2414426

3

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

Pepin MG, Byers PH. Pepin MG, et al. Am J Med Genet C Semin Med Genet. 2015 Dec;169(4):307-13. doi: 10.1002/ajmg.c.31459. Epub 2015 Nov 14. Am J Med Genet C Semin Med Genet. 2015. PMID: 26566591 Review.

4

Cerebrovascular complications in Ehlers-Danlos syndrome type IV.

North KN, Whiteman DA, Pepin MG, Byers PH. North KN, et al. Among authors: pepin mg. Ann Neurol. 1995 Dec;38(6):960-4. doi: 10.1002/ana.410380620. Ann Neurol. 1995. PMID: 8526472 Review.

5

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH. Keller RB, et al. Among authors: pepin mg. Genet Med. 2018 Apr;20(4):411-419. doi: 10.1038/gim.2017.115. Epub 2017 Aug 17. Genet Med. 2018. PMID: 28817112 Free PMC article.

6

Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.

Hicks KL, Byers PH, Quiroga E, Pepin MG, Shalhub S. Hicks KL, et al. Among authors: pepin mg. J Vasc Surg. 2018 Sep;68(3):701-711. doi: 10.1016/j.jvs.2017.12.023. Epub 2018 Mar 3. J Vasc Surg. 2018. PMID: 29510914 Free article.

7

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.

Pepin MG, Murray ML, Bailey S, Leistritz-Kessler D, Schwarze U, Byers PH. Pepin MG, et al. Genet Med. 2016 Jan;18(1):20-4. doi: 10.1038/gim.2015.31. Epub 2015 Apr 2. Genet Med. 2016. PMID: 25834947 Free article.

8

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. Baldridge D, et al. Among authors: pepin mg. Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799. Hum Mutat. 2008. PMID: 18566967 Free PMC article.

9

Arteriohepatic dysplasia: phenotypic features and family studies.

Mueller RF, Pagon RA, Pepin MG, Haas JE, Kawabori I, Stevenson JG, Stephan MJ, Blumhagen JD, Christie DL. Mueller RF, et al. Among authors: pepin mg. Clin Genet. 1984 Apr;25(4):323-31. doi: 10.1111/j.1399-0004.1984.tb01998.x. Clin Genet. 1984. PMID: 6424981

10

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

Jørgensen A, Fagerheim T, Rand-Hendriksen S, Lunde PI, Vorren TO, Pepin MG, Leistritz DF, Byers PH. Jørgensen A, et al. Among authors: pepin mg. Eur J Hum Genet. 2015 Jun;23(6):796-802. doi: 10.1038/ejhg.2014.181. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205403 Free PMC 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

Results by year

Text availability

Article attribute

Article type

Publication date

19 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

19 results

Results by year