Literature DB >> 17937425

Three additional cases of the Michels syndrome.

Gabriela F Leal1, Eduardo V P Baptista.   

Abstract

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Year:  2007        PMID： 17937425     DOI： 10.1002/ajmg.a.32029

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


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  4 in total

1.  MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Authors:  Asli Sirmaci; Tom Walsh; Hatice Akay; Michail Spiliopoulos; Yıldırım Bayezit Sakalar; Aylin Hasanefendioğlu-Bayrak; Duygu Duman; Amjad Farooq; Mary-Claire King; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

2.  Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.

Authors:  Caroline Rooryck; Anna Diaz-Font; Daniel P S Osborn; Elyes Chabchoub; Victor Hernandez-Hernandez; Hanan Shamseldin; Joanna Kenny; Aoife Waters; Dagan Jenkins; Ali Al Kaissi; Gabriela F Leal; Bruno Dallapiccola; Franco Carnevale; Maria Bitner-Glindzicz; Melissa Lees; Raoul Hennekam; Philip Stanier; Alan J Burns; Hilde Peeters; Fowzan S Alkuraya; Philip L Beales
Journal:  Nat Genet       Date:  2011-01-23       Impact factor: 38.330

Review 3.  Michels syndrome: the first case report from India and review of literature.

Authors:  Adedayo A Adio; Ramesh Kekunnaya; Lokesh Lingappa
Journal:  Indian J Ophthalmol       Date:  2014-09       Impact factor: 1.848

4.  Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Authors:  Tahir Atik; Asuman Koparir; Guney Bademci; Joseph Foster; Umut Altunoglu; Gül Yesiltepe Mutlu; Sarah Bowdin; Nursel Elcioglu; Gulsen A Tayfun; Sevinc Sahin Atik; Mustafa Ozen; Ferda Ozkinay; Yasemin Alanay; Hulya Kayserili; Steffen Thiel; Mustafa Tekin
Journal:  Orphanet J Rare Dis       Date:  2015-09-30       Impact factor: 4.123
  4 in total

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