Literature DB >> 19206158

GAPO syndrome associated with dilated cardiomyopathy: an unreported association.

Gonenc Kocabay1, Meral Mert.   

Abstract

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Year:  2009        PMID： 19206158     DOI： 10.1002/ajmg.a.32638

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


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  5 in total

1.  Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Authors:  Yavuz Bayram; Davut Pehlivan; Ender Karaca; Tomasz Gambin; Shalini N Jhangiani; Serkan Erdin; Claudia Gonzaga-Jauregui; Wojciech Wiszniewski; Donna Muzny; Nursel H Elcioglu; M Selman Yildirim; Banu Bozkurt; Ayse Gul Zamani; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal:  Am J Med Genet A       Date:  2014-07-14       Impact factor: 2.802

2.  Mutations in ANTXR1 cause GAPO syndrome.

Authors:  Viktor Stránecký; Alexander Hoischen; Hana Hartmannová; Maha S Zaki; Amit Chaudhary; Enrique Zudaire; Lenka Nosková; Veronika Barešová; Anna Přistoupilová; Kateřina Hodaňová; Jana Sovová; Helena Hůlková; Lenka Piherová; Jayne Y Hehir-Kwa; Deepthi de Silva; Manouri P Senanayake; Sameh Farrag; Jiří Zeman; Pavel Martásek; Alice Baxová; Hanan H Afifi; Brad St Croix; Han G Brunner; Samia Temtamy; Stanislav Kmoch
Journal:  Am J Hum Genet       Date:  2013-04-18       Impact factor: 11.025

3.  RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.

Authors:  Lina Basel-Vanagaite; Ofer Sarig; Dov Hershkovitz; Dana Fuchs-Telem; Debora Rapaport; Andrea Gat; Gila Isman; Idit Shirazi; Mordechai Shohat; Claes D Enk; Efrat Birk; Jürgen Kohlhase; Uta Matysiak-Scholze; Idit Maya; Carlos Knopf; Anette Peffekoven; Hans-Christian Hennies; Reuven Bergman; Mia Horowitz; Akemi Ishida-Yamamoto; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2009-07-23       Impact factor: 11.025

4.  GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.

Authors:  Nishant Goyal; Hitesh Gurjar; Bhawani Shankar Sharma; Manjari Tripathi; P Sarat Chandra
Journal:  BMJ Case Rep       Date:  2014-01-28

5.  Anesthetic management of a case of GAPO syndrome for craniosynostosis surgery.

Authors:  Vivek Bharati Sharma; Mihir Prakash Pandia; Parameswar Pankaj Kumar Raut
Journal:  J Anaesthesiol Clin Pharmacol       Date:  2013-10
  5 in total

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