Literature DB >> 17663475

Cardiac findings in Weill-Marchesani syndrome.

Javad Kojuri1, Mohammad Reza Razeghinejad, Amir Aslani.   

Abstract

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Year:  2007        PMID： 17663475     DOI： 10.1002/ajmg.a.31861

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Authors:  Jose Morales; Latifa Al-Sharif; Dania S Khalil; Jameela M A Shinwari; Prashant Bavi; Rahima A Al-Mahrouqi; Ali Al-Rajhi; Fowzan S Alkuraya; Brian F Meyer; Nada Al Tassan
Journal:  Am J Hum Genet       Date:  2009-11       Impact factor: 11.025

2.  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

3.  Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation.

Authors:  Pradipta Bhakta; Hatem Abdulghani Mady; Jyoti Burad; Qutaiba Amir Tawfic
Journal:  Indian J Anaesth       Date:  2011-07

4.  Genetic Basis of Human Congenital Heart Disease.

Authors:  Shannon N Nees; Wendy K Chung
Journal:  Cold Spring Harb Perspect Biol       Date:  2020-09-01       Impact factor: 9.708

Review 5.  Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.

Authors:  Hui Guo; Xinyi Wu; Keli Cai; Zhi Qiao
Journal:  BMC Ophthalmol       Date:  2015-01-09       Impact factor: 2.209

6.  Genetic regulation of linear growth.

Authors:  Shanna Yue; Philip Whalen; Youn Hee Jee
Journal:  Ann Pediatr Endocrinol Metab       Date:  2019-03-31

7.  ADAMTS proteases in cardiovascular physiology and disease.

Authors:  Salvatore Santamaria; Rens de Groot
Journal:  Open Biol       Date:  2020-12-23       Impact factor: 6.411

8.  Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.

Authors:  Dena R Matalon; David A Stevenson; Elizabeth J Bhoj; Avni B Santani; Beth Keena; Meryl S Cohen; Angela E Lin; Sarah E Sheppard; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2021-03-08       Impact factor: 2.802

9.  Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.

Authors:  Mohd Hussain Shah; Vishwanath Bhat; Jyoti S Shetty; Arun Kumar
Journal:  Mol Vis       Date:  2014-06-12       Impact factor: 2.367

Review 10.  The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.

Authors:  Stylianos Z Karoulias; Nandaraj Taye; Sarah Stanley; Dirk Hubmacher
Journal:  Biomolecules       Date:  2020-04-12
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