| scholarly article | Q13442814 |
| P953 | full work available at URL | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7611299/pdf/?tool=EBI |
| https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7611299/?tool=EBI | ||
| https://europepmc.org/articles/PMC1801235 | ||
| https://europepmc.org/articles/PMC1801235?pdf=render | ||
| P932 | PMC publication ID | 1801235 |
| P698 | PubMed publication ID | 7611299 |
| P2093 | author name string | F. Ramirez | |
| L. Pereira | |||
| S. Sood | |||
| H. C. Dietz | |||
| C. A. Francomano | |||
| R. E. Pyeritz | |||
| I. McIntosh | |||
| E. Bull | |||
| G. Nijbroek | |||
| P2860 | cites work | Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils | Q24299279 |
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| Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms | Q34234444 | ||
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| Nonsense mutations in the dihydrofolate reductase gene affect RNA processing | Q36769262 | ||
| Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides | Q37084846 | ||
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| Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred | Q38307738 | ||
| Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome | Q38317023 | ||
| Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome | Q42131929 | ||
| Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study | Q45169553 | ||
| A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome | Q48080859 | ||
| The Second International Symposium on the Marfan Syndrome. | Q53388913 | ||
| Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. | Q53472818 | ||
| Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene | Q55671357 | ||
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| Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains | Q67482103 | ||
| Novel type of very high affinity calcium-binding sites in beta-hydroxyasparagine-containing epidermal growth factor-like domains in vitamin K-dependent protein S | Q68429013 | ||
| Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome | Q68522031 | ||
| Location on chromosome 15 of the gene defect causing Marfan syndrome | Q68923094 | ||
| The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. | Q70118986 | ||
| The skipping of constitutive exons in vivo induced by nonsense mutations | Q70554031 | ||
| Marfan gene dissected | Q70732506 | ||
| A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module | Q70742944 | ||
| Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients | Q71996189 | ||
| Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts | Q72132138 | ||
| Second international symposium on the Marfan syndrome, November 7-9, 1992, San Francisco, CA | Q72223749 | ||
| Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome | Q72250031 | ||
| The question of heterogeneity in Marfan syndrome | Q72293571 | ||
| Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques | Q72679342 | ||
| Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains | Q72706780 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Marfan syndrome | Q208562 |
| amplicon | Q2844457 | ||
| DNA mutational analysis | Q72138518 | ||
| P304 | page(s) | 8-21 | |
| P577 | publication date | 1995-07-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons | |
| P478 | volume | 57 |
| Q88508701 | A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser |
| Q35910866 | A novel FBN1 mutation in a Chinese family with isolated ectopia lentis |
| Q35250347 | A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. |
| Q24533380 | A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum |
| Q42430246 | Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization |
| Q44281051 | An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease |
| Q41907644 | Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea |
| Q33677662 | Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome |
| Q38421397 | Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. |
| Q37325957 | Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation |
| Q37928833 | Cross talk among TGF-β signaling pathways, integrins, and the extracellular matrix |
| Q34145672 | Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes |
| Q33212530 | Dissecting the genetics of human high myopia: a molecular biologic approach |
| Q33677788 | Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome |
| Q22065344 | Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome |
| Q34013656 | Evidence for hitchhiking of deleterious mutations within the human genome |
| Q36264669 | Explaining additional genetic variation in complex traits |
| Q54917917 | FBN1 contributing to familial congenital diaphragmatic hernia. |
| Q35882206 | Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. |
| Q24546585 | Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome |
| Q37413815 | Genetic alterations in syndromes with oral manifestations |
| Q34973311 | Human Splicing Finder: an online bioinformatics tool to predict splicing signals |
| Q30413851 | Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis |
| Q35590369 | Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus |
| Q34327023 | Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene |
| Q49053501 | Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. |
| Q80305336 | Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome |
| Q36744467 | Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1 |
| Q93519371 | Letter to the editor |
| Q39718540 | Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene |
| Q34648993 | Marfan Database (third edition): new mutations and new routines for the software |
| Q24553344 | Marfan's syndrome |
| Q24794448 | Multi-exon deletions of the FBN1 gene in Marfan syndrome |
| Q34388195 | Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome |
| Q35473537 | Muscle fibrillin deficiency in Marfan's syndrome myopathy |
| Q33926627 | Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis |
| Q35069518 | Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations |
| Q37217869 | Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes |
| Q39715184 | Software and database for the analysis of mutations in the human FBN1 gene |
| Q33566661 | TGF-β activation and function in immunity |
| Q34748654 | The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome |
| Q26829538 | The missing puzzle piece: splicing mutations |
| Q24656172 | The molecular genetics of Marfan syndrome and related disorders |
| Q24681593 | The molecular genetics of Marfan syndrome and related microfibrillopathies |
| Q57178700 | Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome |
| Q38706381 | Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32. |
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