Pepin M - Search Results

1

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.

Kerwin W, Pepin M, Mitsumori L, Yarnykh V, Schwarze U, Byers P. Kerwin W, et al. Among authors: pepin m. Int J Cardiovasc Imaging. 2008 Jun;24(5):519-28. doi: 10.1007/s10554-007-9283-z. Epub 2007 Nov 28. Int J Cardiovasc Imaging. 2008. PMID: 18043893

2

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.

3

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.

4

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.

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

Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature.

Chuman H, Trobe JD, Petty EM, Schwarze U, Pepin M, Byers PH, Deveikis JP. Chuman H, et al. Among authors: pepin m. J Neuroophthalmol. 2002 Jun;22(2):75-81. doi: 10.1097/00041327-200206000-00002. J Neuroophthalmol. 2002. PMID: 12131463 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

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.

9

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.

10

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.

Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH. Pyott SM, et al. Among authors: pepin mg. Genet Med. 2011 Feb;13(2):125-30. doi: 10.1097/GIM.0b013e318202e0f6. Genet Med. 2011. PMID: 21239989 Free article.

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