Dietz HC - Search Results

1

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP. Awad MM, et al. Among authors: dietz hc. Am J Hum Genet. 2006 Jul;79(1):136-42. doi: 10.1086/504393. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16773573 Free PMC article.

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. Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504. Hum Mutat. 1992. PMID: 1301946

3

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: dietz hc. Am J Hum Genet. 1995 Jul;57(1):8-21. Am J Hum Genet. 1995. PMID: 7611299 Free PMC article.

4

Marfan's syndrome and other microfibrillar diseases.

Dietz HC, Ramirez F, Sakai LY. Dietz HC, et al. Adv Hum Genet. 1994;22:153-86. doi: 10.1007/978-1-4757-9062-7_4. Adv Hum Genet. 1994. PMID: 7762452 Review. No abstract available.

5

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: dietz hc. 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.

6

Inhibition of fibrillin 1 expression using U1 snRNA as a vehicle for the presentation of antisense targeting sequence.

Montgomery RA, Dietz HC. Montgomery RA, et al. Among authors: dietz hc. Hum Mol Genet. 1997 Apr;6(4):519-25. doi: 10.1093/hmg/6.4.519. Hum Mol Genet. 1997. PMID: 9097954

7

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. Montgomery RA, et al. Among authors: dietz hc. Am J Hum Genet. 1998 Dec;63(6):1703-11. doi: 10.1086/302144. Am J Hum Genet. 1998. PMID: 9837823 Free PMC article.

8

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC. Eldadah ZA, et al. Among authors: dietz hc. Hum Mol Genet. 2001 Jan 15;10(2):163-9. doi: 10.1093/hmg/10.2.163. Hum Mol Genet. 2001. PMID: 11152664

9

Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome.

Judge DP, Biery NJ, Dietz HC. Judge DP, et al. Among authors: dietz hc. Am J Med Genet. 2001 Feb 15;99(1):39-47. doi: 10.1002/1096-8628(20010215)99:1<39::aid-ajmg1114>3.0.co;2-3. Am J Med Genet. 2001. PMID: 11170092

10

Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation.

Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC. Zhang J, et al. Among authors: dietz hc. Hum Mol Genet. 2001 Dec 1;10(25):2953-60. doi: 10.1093/hmg/10.25.2953. Hum Mol Genet. 2001. PMID: 11741838

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