Pyeritz RE - Search Results

1

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.

2

Achondroplasia is not caused by mutation in the gene for type II collagen.

Francomano CA, Pyeritz RE. Francomano CA, et al. Among authors: pyeritz re. Am J Med Genet. 1988 Apr;29(4):955-61. doi: 10.1002/ajmg.1320290433. Am J Med Genet. 1988. PMID: 2899976

3

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

4

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

Piersall LD, Dietz HC, Hall BD, Cadle RG, Pyeritz RE, Francomano CA, McIntosh I. Piersall LD, et al. Among authors: pyeritz re. Hum Mol Genet. 1994 Jun;3(6):1013-4. doi: 10.1093/hmg/3.6.1013. Hum Mol Genet. 1994. PMID: 7951214 Clinical Trial. No abstract available.

5

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Dietz HC, et al. Among authors: pyeritz re. Genomics. 1993 Aug;17(2):468-75. doi: 10.1006/geno.1993.1349. Genomics. 1993. PMID: 8406497 Free article.

6

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

Dietz HC, Pyeritz RE. Dietz HC, et al. Among authors: pyeritz re. Hum Mol Genet. 1995;4 Spec No:1799-809. doi: 10.1093/hmg/4.suppl_1.1799. Hum Mol Genet. 1995. PMID: 8541880 Review.

7

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA. Polymeropoulos MH, et al. Among authors: pyeritz re. Genomics. 1996 Jul 1;35(1):1-5. doi: 10.1006/geno.1996.0315. Genomics. 1996. PMID: 8661097 Free article.

8

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

9

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE. Francomano CA, et al. Among authors: pyeritz re. Genomics. 1987 Dec;1(4):293-6. doi: 10.1016/0888-7543(87)90027-9. Genomics. 1987. PMID: 2896625

10

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Nijbroek G, et al. Among authors: pyeritz re. Am J Hum Genet. 1995 Jul;57(1):8-21. Am J Hum Genet. 1995. PMID: 7611299 Free PMC article.

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