Literature DB >> 9101298

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.

M Wang1, J Y Wang, J Cisler, K Imaizumi, B K Burton, M C Jones, J J Lamberti, M Godfrey.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9101298     DOI： 10.1002/(SICI)1098-1004(1997)9:4<359::AID-HUMU10>3.0.CO;2-1

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  7 in total

1.  Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

Authors:  I Schrijver; W Liu; T Brenn; H Furthmayr; U Francke
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  Marfan Database (third edition): new mutations and new routines for the software.

Authors:  G Collod-Béroud; C Béroud; L Ades; C Black; M Boxer; D J Brock; K J Holman; A de Paepe; U Francke; U Grau; C Hayward; H G Klein; W Liu; L Nuytinck; L Peltonen; A B Alvarez Perez; T Rantamäki; C Junien; C Boileau
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

Review 3.  Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.

Authors:  Jun Maeda; Kenjiro Kosaki; Junko Shiono; Kazuki Kouno; Ryo Aeba; Hiroyuki Yamagishi
Journal:  Heart Vessels       Date:  2016-01-21       Impact factor: 2.037

4.  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

5.  Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

Authors:  Iris Schrijver; Wanguo Liu; Raanan Odom; Thomas Brenn; Peter Oefner; Heinz Furthmayr; Uta Francke
Journal:  Am J Hum Genet       Date:  2002-06-14       Impact factor: 11.025

6.  Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.

Authors:  L Rozendaal; N A Blom; Y Hilhorst-Hofstee; A D J Ten Harkel
Journal:  Case Rep Med       Date:  2011-07-12

7.  Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Authors:  Sacha A Jensen; Ondine Atwa; Penny A Handford
Journal:  PLoS One       Date:  2021-03-18       Impact factor: 3.240
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.