Literature DB >> 8268958

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

L Pereira, M D'Alessio, F Ramirez, J R Lynch, B Sykes, T Pangilinan, J Bonadio.   

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Year:  1993        PMID： 8268958     DOI： 10.1093/hmg/2.10.1762

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  17 in total

Review 1.  The molecular genetics of Marfan syndrome and related microfibrillopathies.

Authors:  P N Robinson; M Godfrey
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 2.  Marfan's syndrome.

Authors:  Daniel P Judge; Harry C Dietz
Journal:  Lancet       Date:  2005-12-03       Impact factor: 79.321

3.  Developmental and age-related changes to the elastic lamina of Bruch's membrane in mice.

Authors:  Hidetsugu Mori; Haruhiko Yamada; Keiko Toyama; Kanji Takahashi; Tomoya Akama; Tadashi Inoue; Tomoyuki Nakamura
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-11-29       Impact factor: 3.117

Review 4.  The molecular genetics of Marfan syndrome and related disorders.

Authors:  P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

5.  Complex contributions of fibronectin to initiation and maturation of microfibrils.

Authors:  Laetitia Sabatier; Jelena Djokic; Christine Fagotto-Kaufmann; Marian Chen; Douglas S Annis; Deane F Mosher; Dieter P Reinhardt
Journal:  Biochem J       Date:  2013-12-01       Impact factor: 3.857

6.  Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.

Authors:  Natalina Quarto; Brian Leonard; Shuli Li; Melanie Marchand; Erica Anderson; Barry Behr; Uta Francke; Renee Reijo-Pera; Eric Chiao; Michael T Longaker
Journal:  Proc Natl Acad Sci U S A       Date:  2011-12-16       Impact factor: 11.205

7.  RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome.

Authors:  Patrick Booms; Reinhard Pregla; Andreas Ney; Frank Barthel; Dieter P Reinhardt; Angelika Pletschacher; Stefan Mundlos; Peter N Robinson
Journal:  Hum Genet       Date:  2004-10-23       Impact factor: 4.132

8.  Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Authors:  Chantal Stheneur; Gwenaëlle Collod-Béroud; Laurence Faivre; Jean François Buyck; Laurent Gouya; Jean-Marie Le Parc; Bertrand Moura; Christine Muti; Bernard Grandchamp; Gilles Sultan; Mireille Claustres; Philippe Aegerter; Bertrand Chevallier; Guillaume Jondeau; Catherine Boileau
Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

Review 9.  Tissue engineered bone mimetics to study bone disorders ex vivo: Role of bioinspired materials.

Authors:  Yuru Vernon Shih; Shyni Varghese
Journal:  Biomaterials       Date:  2018-06-06       Impact factor: 12.479

10.  Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.

Authors:  Nicole Revencu; Geneviève Quenum; Thierry Detaille; Gaston Verellen; Anne De Paepe; Christine Verellen-Dumoulin
Journal:  Eur J Pediatr       Date:  2003-10-30       Impact factor: 3.183
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