Pyeritz RE - Search Results

1

Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature.

Pandya A, Braverman N, Pyeritz RE, Ying KL, Kline AD, Falk RE. Pandya A, et al. Among authors: pyeritz re. Am J Med Genet. 1995 Oct 23;59(1):38-43. doi: 10.1002/ajmg.1320590109. Am J Med Genet. 1995. PMID: 8849008 Review.

2

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Lin AE, et al. Among authors: pyeritz re. Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097/gim.0b013e3181772111. Genet Med. 2008. PMID: 18580689 Free PMC article. Review.

3

Revised diagnostic criteria for the Marfan syndrome.

De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. De Paepe A, et al. Among authors: pyeritz re. Am J Med Genet. 1996 Apr 24;62(4):417-26. doi: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8723076

4

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

Strong A, Skraban C, Meyers K, Amaral S, Furth S, Drant S, Hsiao W, Galea L, Gold J, Gold NB, Leonard J, Lopez S, Zackai EH, Pyeritz RE. Strong A, et al. Among authors: pyeritz re. Am J Med Genet A. 2021 Dec;185(12):3762-3769. doi: 10.1002/ajmg.a.62449. Epub 2021 Aug 6. Am J Med Genet A. 2021. PMID: 34355836 Free PMC article.

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

Response to Knoppers et al.

David KL, Best RG, Brenman LM, Bush L, Deignan J, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE. David KL, et al. Among authors: pyeritz re. Genet Med. 2019 Oct;21(10):2403. doi: 10.1038/s41436-019-0496-z. Epub 2019 Apr 11. Genet Med. 2019. PMID: 30971833 Free article. No abstract available.

7

The Second International Symposium on the Marfan Syndrome.

Pyeritz RE, Francke U. Pyeritz RE, et al. Am J Med Genet. 1993 Aug 1;47(1):127-35. doi: 10.1002/ajmg.1320470131. Am J Med Genet. 1993. PMID: 8103631 No abstract available.

8

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE; ACMG Social Ethical Legal Issues Committee. David KL, et al. Among authors: pyeritz re. Genet Med. 2019 Apr;21(4):769-771. doi: 10.1038/s41436-018-0391-z. Epub 2018 Dec 22. Genet Med. 2019. PMID: 30578420 Free article. No abstract available.

9

Angular homeostasis: VI. Threshold processes with bivariate liabilities.

Murphy EA, Berger KR, Pyeritz RE, Sagawa Y. Murphy EA, et al. Among authors: pyeritz re. Am J Med Genet. 1990 May;36(1):115-21. doi: 10.1002/ajmg.1320360123. Am J Med Genet. 1990. PMID: 2333900

10

Molecular nosology of heritable disorders of connective tissue.

Beighton P, De Paepe A, Hall JG, Hollister DW, Pope FM, Pyeritz RE, Steinmann B, Tsipouras P. Beighton P, et al. Among authors: pyeritz re. Am J Med Genet. 1992 Feb 15;42(4):431-48. doi: 10.1002/ajmg.1320420406. Am J Med Genet. 1992. PMID: 1609825 No abstract available.

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