Literature DB >> 21261602

Exploring the genetic origins of Treacher Collins syndrome.

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Abstract

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Year:  2011        PMID： 21261602     DOI： 10.1111/j.1399-0004.2011.01632.x

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


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  3 in total

Review 1.  Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.

Authors:  Jan-Ulrich Schlump; Anja Stein; Ute Hehr; Tanja Karen; Claudia Möller-Hartmann; Nursel H Elcioglu; Nadja Bogdanova; Hartmut Fritz Woike; Dietmar R Lohmann; Ursula Felderhoff-Mueser; Annette Linz; Dagmar Wieczorek
Journal:  Eur J Pediatr       Date:  2012-06-23       Impact factor: 3.183

2.  A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

Authors:  Yan Wang; Xiao-Juan Yin; Tao Han; Wei Peng; Hong-Lin Wu; Xin Liu; Zhi-Chun Feng
Journal:  Mol Genet Genomics       Date:  2014-07-04       Impact factor: 3.291

3.  Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Authors:  Karen W Gripp; Cynthia Curry; Ann Haskins Olney; Claudio Sandoval; Jamie Fisher; Jessica Xiao-Ling Chong; Lisa Pilchman; Rebecca Sahraoui; Deborah L Stabley; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2014-06-18       Impact factor: 2.802
  3 in total

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