A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

[1]  R E Pyeritz,et al.  Revised diagnostic criteria for the Marfan syndrome. , 1996, American journal of medical genetics.

[2]  P. Byers,et al.  Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. , 1996, American journal of medical genetics.

[3]  H. Dietz,et al.  Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome , 1996, Nature Genetics.

[4]  H. Dietz,et al.  Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. , 1995, Human molecular genetics.

[5]  U. Francke,et al.  Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. , 1995, American journal of medical genetics.

[6]  R E Pyeritz,et al.  Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. , 1995, American journal of human genetics.

[7]  U. Francke,et al.  A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. , 1995, American journal of human genetics.

[8]  M. Raghunath,et al.  Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation. , 1995, Journal of molecular biology.

[9]  D. Milewicz,et al.  A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. , 1995, The Journal of clinical investigation.

[10]  L. Peltonen,et al.  A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. , 1994, American journal of human genetics.

[11]  J. Mulley,et al.  Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. , 1994, American journal of medical genetics.

[12]  L. Peltonen,et al.  Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome. , 1994, The Biochemical journal.

[13]  C. Hayward,et al.  A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. , 1994, Molecular and cellular probes.

[14]  U. Francke,et al.  Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. , 1994, The Journal of clinical investigation.

[15]  D. Milewicz,et al.  Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. , 1994, American journal of human genetics.

[16]  M. Raghunath,et al.  Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta. , 1994, Journal of molecular biology.

[17]  L. Peltonen,et al.  A novel mutation of the fibrillin gene causing ectopia lentis. , 1994, Genomics.

[18]  T. Pringle,et al.  Ascertainment and severity of Marfan syndrome in a Scottish population. , 1994, Journal of medical genetics.

[19]  U. Francke,et al.  Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. , 1993, Human molecular genetics.

[20]  C. Kielty,et al.  Synthesis and assembly of fibrillin by fibroblasts and smooth muscle cells. , 1993, Journal of cell science.

[21]  E. Girodon,et al.  Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping. , 1993, Human molecular genetics.

[22]  M. Mattei,et al.  Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes , 1991, Nature.

[23]  Ada Hamosh,et al.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene , 1991, Nature.

[24]  R. Devereux,et al.  Two-dimensional echocardiographic aortic root dimensions in normal children and adults. , 1989, The American journal of cardiology.

[25]  D. Sillence,et al.  International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. , 1988, American journal of medical genetics.

[26]  L. Peltonen,et al.  Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome , 1994, Nature Genetics.

[27]  B. Sykes,et al.  Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. , 1993, Human molecular genetics.

[28]  P. Byers,et al.  Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. , 1992, The Journal of clinical investigation.

[29]  G. Steger,et al.  Temperature‐gradient gel electrophoresis for the detection of polymorphic DNA and for quantitative polymerase chain reaction , 1992, Electrophoresis.

[30]  L. Lerman,et al.  Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. , 1987, Methods in enzymology.

[31]  R. Pyeritz The Marfan syndrome. , 1986, American family physician.