Tsipouras P - Search Results

1

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.

Toudjarska I, Kilpatrick MW, Lembessis P, Carra S, Harton GL, Sisson ME, Black SH, Stern HJ, Gelman-Kohan Z, Shohat M, Tsipouras P. Toudjarska I, et al. Among authors: tsipouras p. Am J Med Genet. 2001 Apr 1;99(4):294-302. doi: 10.1002/ajmg.1174. Am J Med Genet. 2001. PMID: 11251996

2

Haplotype analysis enables the diagnosis of Marfan syndrome.

Basel D, Kilpatrick MW, Tsipouras P. Basel D, et al. Among authors: tsipouras p. Conn Med. 2004 Jun-Jul;68(6):363-6. Conn Med. 2004. PMID: 15266886

3

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.

Stoilov I, Kilpatrick MW, Tsipouras P. Stoilov I, et al. Among authors: tsipouras p. Am J Med Genet. 1995 Jan 2;55(1):127-33. doi: 10.1002/ajmg.1320550132. Am J Med Genet. 1995. PMID: 7702086

4

Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts.

Kilpatrick MW, Phylactou LA, Godfrey M, Wu CH, Wu GY, Tsipouras P. Kilpatrick MW, et al. Among authors: tsipouras p. Hum Mol Genet. 1996 Dec;5(12):1939-44. doi: 10.1093/hmg/5.12.1939. Hum Mol Genet. 1996. PMID: 8968747

5

Preimplantation genetic diagnosis in Marfan syndrome.

Kilpatrick MW, Harton GL, Phylactou LA, Levinson G, Fugger EF, Schulman JD, Black SH, Tsipouras P. Kilpatrick MW, et al. Among authors: tsipouras p. Fetal Diagn Ther. 1996 Nov-Dec;11(6):402-6. doi: 10.1159/000264355. Fetal Diagn Ther. 1996. PMID: 9115627

6

Hammerhead ribozymes targeted to the FBN1 mRNA can discriminate a single base mismatch between ribozyme and target.

Phylactou LA, Tsipouras P, Kilpatrick MW. Phylactou LA, et al. Among authors: tsipouras p. Biochem Biophys Res Commun. 1998 Aug 28;249(3):804-10. doi: 10.1006/bbrc.1998.9241. Biochem Biophys Res Commun. 1998. PMID: 9731217

7

A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.

Kilpatrick MW, Lembessis P, Rose E, Tsipouras P. Kilpatrick MW, et al. Among authors: tsipouras p. Hum Hered. 1999 Jun;49(3):176-7. doi: 10.1159/000022867. Hum Hered. 1999. PMID: 10364683 No abstract available.

8

The expanding panorama of split hand foot malformation.

Basel D, Kilpatrick MW, Tsipouras P. Basel D, et al. Among authors: tsipouras p. Am J Med Genet A. 2006 Jul 1;140(13):1359-65. doi: 10.1002/ajmg.a.31304. Am J Med Genet A. 2006. PMID: 16763964 Review.

9

A recurring FBN1 gene mutation in neonatal Marfan syndrome.

Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. Jacobs AM, et al. Among authors: tsipouras p. Arch Pediatr Adolesc Med. 2002 Nov;156(11):1081-5. doi: 10.1001/archpedi.156.11.1081. Arch Pediatr Adolesc Med. 2002. PMID: 12413333

10

A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

Sarfarazi M, Tsipouras P, Del Mastro R, Kilpatrick M, Farndon P, Boxer M, Bridges A, Boileau C, Junien C, Hayward C, et al. Sarfarazi M, et al. Among authors: tsipouras p. J Med Genet. 1992 Feb;29(2):75-80. doi: 10.1136/jmg.29.2.75. J Med Genet. 1992. PMID: 1613769 Free PMC article.

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