Literature DB >> 18266249

Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

Gabriela F Leal1, Elias O Silva, Andréa R Duarte, João F Campos.   

Abstract

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Year:  2008        PMID： 18266249     DOI： 10.1002/ajmg.a.32252

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


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  10 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.  Proposed caudal appendage classification system; spinal cord tethering associated with sacrococcygeal eversion.

Authors:  C Corbett Wilkinson; Arianne J Boylan
Journal:  Childs Nerv Syst       Date:  2016-08-06       Impact factor: 1.475

3.  The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.

Authors:  Tang Yongqing; Pascal G Wilmann; Shane B Reeve; Theresa H Coetzer; A Ian Smith; James C Whisstock; Robert N Pike; Lakshmi C Wijeyewickrema
Journal:  J Biol Chem       Date:  2013-06-21       Impact factor: 5.157

Review 4.  The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data.

Authors:  Eric Van Otterloo; Trevor Williams; Kristin Bruk Artinger
Journal:  Dev Biol       Date:  2016-01-22       Impact factor: 3.582

5.  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 6.  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

7.  Developmental activities of the complement pathway in migrating neurons.

Authors:  Anna Gorelik; Tamar Sapir; Rebecca Haffner-Krausz; Tsviya Olender; Trent M Woodruff; Orly Reiner
Journal:  Nat Commun       Date:  2017-05-02       Impact factor: 14.919

8.  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

Review 9.  Complement in animal development: unexpected roles of a highly conserved pathway.

Authors:  Jonathan D Leslie; Roberto Mayor
Journal:  Semin Immunol       Date:  2013-05-10       Impact factor: 11.130

10.  COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

Authors:  Mustafa M Munye; Anna Diaz-Font; Louise Ocaka; Maiken L Henriksen; Melissa Lees; Angela Brady; Dagan Jenkins; Jenny Morton; Soren W Hansen; Chiara Bacchelli; Philip L Beales; Victor Hernandez-Hernandez
Journal:  PLoS Genet       Date:  2017-03-16       Impact factor: 5.917
  10 in total

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