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298 results
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Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.
Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE. Yuan B, et al. Among authors: pyeritz re. Hum Mutat. 1999;14(5):440-6. doi: 10.1002/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P. Hum Mutat. 1999. PMID: 10533071
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
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Among authors: pyeritz re. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Callewaert BL, et al. Among authors: pyeritz re. Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623. Hum Mutat. 2008. PMID: 17935213
The Marfan syndrome.
Pyeritz RE. Pyeritz RE. Annu Rev Med. 2000;51:481-510. doi: 10.1146/ Annu Rev Med. 2000. PMID: 10774478 Review.
The revised Ghent nosology for the Marfan syndrome.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. Loeys BL, et al. Among authors: pyeritz re. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. J Med Genet. 2010. PMID: 20591885
The economics of clinical genetics services. IV. Financial impact of outpatient genetic services on an academic institution.
Bernhardt BA, Tumpson JE, Pyeritz RE. Bernhardt BA, et al. Among authors: pyeritz re. Am J Hum Genet. 1992 Jan;50(1):84-91. Am J Hum Genet. 1992. PMID: 1729898 Free PMC article.
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
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.
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.
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