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18 in total

1. Fibrillin and the eye.

Authors: J L Ashworth; C M Kielty; D McLeod
Journal: Br J Ophthalmol Date: 2000-11 Impact factor: 4.638

2. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

Authors: M Wang; C L Clericuzio; M Godfrey
Journal: Am J Hum Genet Date: 1996-11 Impact factor: 11.025

3. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Authors: G Collod-Béroud; C Béroud; L Adès; C Black; M Boxer; D J Brock; M Godfrey; C Hayward; L Karttunen; D Milewicz; L Peltonen; R I Richards; M Wang; C Junien; C Boileau
Journal: Nucleic Acids Res Date: 1997-01-01 Impact factor: 16.971

4. Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Authors: M Wang; P Kishnani; M Decker-Phillips; S G Kahler; Y T Chen; M Godfrey
Journal: J Med Genet Date: 1996-09 Impact factor: 6.318

5. An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis.

Authors: B Lecka-Czernik; C K Lumpkin; S Goldstein
Journal: Mol Cell Biol Date: 1995-01 Impact factor: 4.272

Review 6. Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.

Authors: D M Milewicz
Journal: Tex Heart Inst J Date: 1994

7. Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.

Authors: C M Kielty; S J Davies; J E Phillips; C J Jones; C A Shuttleworth; S J Charles
Journal: J Med Genet Date: 1995-01 Impact factor: 6.318

8. A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

Authors: L Karttunen; M Raghunath; L Lönnqvist; L Peltonen
Journal: Am J Hum Genet Date: 1994-12 Impact factor: 11.025

9. An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.

Authors: C Ståhl-Hallengren; T Ukkonen; K Kainulainen; U Kristofersson; T Saxne; K Tornqvist; L Peltonen
Journal: J Clin Invest Date: 1994-08 Impact factor: 14.808

10. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.

Authors: T Aoyama; U Francke; H C Dietz; H Furthmayr
Journal: J Clin Invest Date: 1994-07 Impact factor: 14.808