Pepin M - Search Results

1

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.

Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Byers PH, et al. Among authors: pepin m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306228 Review.

2

The 2017 international classification of the Ehlers-Danlos syndromes.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: pepin m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229

3

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.

Leistritz DF, Pepin MG, Schwarze U, Byers PH. Leistritz DF, et al. Genet Med. 2011 Aug;13(8):717-22. doi: 10.1097/GIM.0b013e3182180c89. Genet Med. 2011. PMID: 21637106 Free article.

4

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.

5

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. 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.

6

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.

7

Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome.

Murray ML, Pepin M, Peterson S, Byers PH. Murray ML, et al. Among authors: pepin m. Genet Med. 2014 Dec;16(12):874-80. doi: 10.1038/gim.2014.53. Epub 2014 Jun 12. Genet Med. 2014. PMID: 24922461 Free article.

8

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Pepin M, Schwarze U, Superti-Furga A, Byers PH. Pepin M, et al. N Engl J Med. 2000 Mar 9;342(10):673-80. doi: 10.1056/NEJM200003093421001. N Engl J Med. 2000. PMID: 10706896 Free article.

9

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH. Schwarze U, et al. Among authors: pepin m. Am J Hum Genet. 2001 Nov;69(5):989-1001. doi: 10.1086/324123. Epub 2001 Sep 27. Am J Hum Genet. 2001. PMID: 11577371 Free PMC article.

10

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.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

356 results

Search Page

Filters