Pyeritz RE - Search Results

1

Chronobiology of Acute Aortic Dissection in the Marfan Syndrome (from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions and the International Registry of Acute Aortic Dissection).

Siddiqi HK, Luminais SN, Montgomery D, Bossone E, Dietz H, Evangelista A, Isselbacher E, LeMaire S, Manfredini R, Milewicz D, Nienaber CA, Roman M, Sechtem U, Silberbach M, Eagle KA, Pyeritz RE; GenTAC and IRAD investigators. Siddiqi HK, et al. Among authors: pyeritz re. Am J Cardiol. 2017 Mar 1;119(5):785-789. doi: 10.1016/j.amjcard.2016.11.021. Epub 2016 Dec 2. Am J Cardiol. 2017. PMID: 28065489

2

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Dietz HC, et al. Among authors: pyeritz re. Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504. Hum Mutat. 1992. PMID: 1301946

3

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Dietz HC, et al. Among authors: pyeritz re. J Clin Invest. 1992 May;89(5):1674-80. doi: 10.1172/JCI115766. J Clin Invest. 1992. PMID: 1569206 Free PMC article.

4

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Dietz HC, et al. Among authors: pyeritz re. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208

5

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

Kainulainen K, Steinmann B, Collins F, Dietz HC, Francomano CA, Child A, Kilpatrick MW, Brock DJ, Keston M, Pyeritz RE, et al. Kainulainen K, et al. Among authors: pyeritz re. Am J Hum Genet. 1991 Sep;49(3):662-7. Am J Hum Genet. 1991. PMID: 1882844 Free PMC article.

6

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA. Dietz HC, et al. Among authors: pyeritz re. Genomics. 1991 Feb;9(2):355-61. doi: 10.1016/0888-7543(91)90264-f. Genomics. 1991. PMID: 2004786 Free article.

7

Familial aortic dissecting aneurysm.

Nicod P, Bloor C, Godfrey M, Hollister D, Pyeritz RE, Dittrich H, Polikar R, Peterson KL. Nicod P, et al. Among authors: pyeritz re. J Am Coll Cardiol. 1989 Mar 15;13(4):811-9. doi: 10.1016/0735-1097(89)90221-0. J Am Coll Cardiol. 1989. PMID: 2647812 Free article.

8

Marfan syndrome: neuropsychological aspects.

Hofman KJ, Bernhardt BA, Pyeritz RE. Hofman KJ, et al. Among authors: pyeritz re. Am J Med Genet. 1988 Oct;31(2):331-8. doi: 10.1002/ajmg.1320310210. Am J Med Genet. 1988. PMID: 3232699

9

Marfan syndrome: exclusion of genetic linkage to three major collagen genes.

Francomano CA, Streeten EA, Meyers DA, Pyeritz RE. Francomano CA, et al. Among authors: pyeritz re. Am J Med Genet. 1988 Feb;29(2):457-62. doi: 10.1002/ajmg.1320290233. Am J Med Genet. 1988. PMID: 3354620

10

The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age.

Sisk HE, Zahka KG, Pyeritz RE. Sisk HE, et al. Among authors: pyeritz re. Am J Cardiol. 1983 Aug;52(3):353-8. doi: 10.1016/0002-9149(83)90138-8. Am J Cardiol. 1983. PMID: 6869287

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