Literature DB >> 13803457

Marfan's syndrome and the Weill-Marchesani syndrome in the S. family.

D BOWERS.   

Abstract

Entities:  

Keywords:  LENS, CRYSTALLINE/abnormalities

Mesh：

Year:  1959        PMID： 13803457     DOI： 10.7326/0003-4819-51-5-1049

Source DB:  PubMed          Journal:  Ann Intern Med        ISSN： 0003-4819            Impact factor:   25.391


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  6 in total

1.  FAMILIAL STREBLODACTLY WITH AMINO-ACIDURIA.

Authors:  J G PARISH; D B HORN; M THOMPSON
Journal:  Br Med J       Date:  1963-11-16

2.  Brachymetacarpal dwarfism or pseudo-pseudohypoparathyroidism with mental defect in siblings.

Authors:  R GIBSON
Journal:  Can Med Assoc J       Date:  1961-07-08       Impact factor: 8.262

3.  Heritable disorders of connective tissue.

Authors:  J S LAWRENCE
Journal:  Proc R Soc Med       Date:  1960-07

4.  Skeletal hand charts in inherited connective tissue disease.

Authors:  J G Parish
Journal:  J Med Genet       Date:  1967-12       Impact factor: 6.318

5.  Formes frustes of Marfan's syndrome presenting with severe aortic regurgitation. Clinicogenetic study of 18 families.

Authors:  R Emanuel; R A Ng; J Marcomichelakis; E C Moores; K E Jefferson; P A MacFaul; R Withers
Journal:  Br Heart J       Date:  1977-02

6.  Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

Authors:  Alana Cecchi; Naomi Ogawa; Hugo R Martinez; Alicia Carlson; Yuxin Fan; Daniel J Penny; Dong-chuan Guo; Steven Eisenberg; Hazim Safi; Anthony Estrera; Richard A Lewis; Deborah Meyers; Dianna M Milewicz
Journal:  Am J Med Genet A       Date:  2013-07-29       Impact factor: 2.802
  6 in total

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