Literature DB >> 23808541

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.

N Patel1, M A Salih, M J Alshammari, F Abdulwahhab, N Adly, F Alzahrani, E A Elgamal, H Y Elkhashab, M Al-Qattan, F S Alkuraya.   

Abstract

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Year:  2013        PMID： 23808541     DOI： 10.1111/cge.12205

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Authors:  Christine M Clarke; Vincent T Fok; Jennifer A Gustafson; Matthew D Smyth; Andrew E Timms; Chris D Frazar; Joshua D Smith; Craig B Birgfeld; Amy Lee; Richard G Ellenbogen; Joseph S Gruss; Richard A Hopper; Michael L Cunningham
Journal:  Am J Med Genet A       Date:  2017-11-23       Impact factor: 2.802

2.  Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Authors:  Michele P Migliavacca; Nara L M Sobreira; Graziela P M Antonialli; Mariana M Oliveira; Maria Isabel S A Melaragno; Ingele Casteels; Thomy de Ravel; Decio Brunoni; David Valle; Ana Beatriz A Perez
Journal:  Am J Med Genet A       Date:  2014-01-29       Impact factor: 2.802

3.  Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Authors:  Mohammad M Al-Qattan; Doaa F Andejani; Nadia A Sakati; Khushnooda Ramzan; Faiqa Imtiaz
Journal:  BMC Med Genet       Date:  2018-01-30       Impact factor: 2.103

4.  Insights into the ligand binding specificity of SREC-II (scavenger receptor expressed by endothelial cells).

Authors:  Catherine Wicker-Planquart; Pascale Tacnet-Delorme; Laurence Preisser; Samy Dufour; Yves Delneste; Dominique Housset; Philippe Frachet; Nicole M Thielens
Journal:  FEBS Open Bio       Date:  2021-09-12       Impact factor: 2.693
  4 in total

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