Literature DB >> 690758

A clefting syndrome with ocular anterior chamber defect and lid anomalies.

V V Michels, H M Hittner, A L Beaudet.   

Abstract

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Year:  1978        PMID： 690758     DOI： 10.1016/s0022-3476(78)81154-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  11 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

Review 2.  Zebrafish models of orofacial clefts.

Authors:  Kaylia M Duncan; Kusumika Mukherjee; Robert A Cornell; Eric C Liao
Journal:  Dev Dyn       Date:  2017-09-25       Impact factor: 3.780

Review 3.  Disease-causing mutations in genes of the complement system.

Authors:  Søren E Degn; Jens C Jensenius; Steffen Thiel
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

4.  A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure.

Authors:  Osamu Motoyama; Hiroko Arai; Ryoko Harada; Kei Hasegawa; Kikuo Iitaka
Journal:  Clin Exp Nephrol       Date:  2010-04-28       Impact factor: 2.801

5.  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

6.  Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient.

Authors:  Nihat Bugra Agaoglu; Ozlem Akgun Dogan
Journal:  Mol Syndromol       Date:  2021-08-31

7.  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 8.  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

9.  Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1).

Authors:  Rafael Bayarri-Olmos; Soren Hansen; Maiken Lumby Henriksen; Line Storm; Steffen Thiel; Peter Garred; Lea Munthe-Fog
Journal:  PLoS One       Date:  2015-02-24       Impact factor: 3.240

10.  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
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