Literature DB >> 5808539

[An extensive form of mandibulo-facial dysostosis].

E Genée.   

Abstract

Entities:  

Mesh：

Year:  1969        PMID： 5808539

Source DB:  PubMed          Journal:  J Genet Hum        ISSN： 0021-7743


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  9 in total

1.  A variant or a "new" postaxial acrofacial dysostosis syndrome.

Authors:  Jerzy Sułko; Dariusz Kotulski; Kazimierz Kozlowski
Journal:  Eur J Pediatr       Date:  2008-02-20       Impact factor: 3.183

Review 2.  Facial dysostoses: Etiology, pathogenesis and management.

Authors:  Paul A Trainor; Brian T Andrews
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

3.  Postaxial acrofacial dysostosis (Miller) syndrome.

Authors:  D Donnai; H E Hughes; R M Winter
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

Review 4.  Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

Authors:  J Vigneron; M Stricker; P Vert; J M Rousselot; M Levy
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

Review 5.  Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.

Authors:  Paul A Trainor; Amy E Merrill
Journal:  Biochim Biophys Acta       Date:  2013-11-16

6.  Postaxial acrofacial dysostosis or Miller syndrome. A case report.

Authors:  D Barbuti; C Orazi; A Reale; C Paradisi
Journal:  Eur J Pediatr       Date:  1989-02       Impact factor: 3.183

7.  Orodental findings in postaxial acrofacial dysostosis.

Authors:  Aadithya B Urs; Priya Kumar; Kalpana Nunia
Journal:  J Oral Maxillofac Pathol       Date:  2014-01

8.  Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

Authors:  Ewelina Bukowska-Olech; Anna Materna-Kiryluk; Joanna Walczak-Sztulpa; Delfina Popiel; Magdalena Badura-Stronka; Grzegorz Koczyk; Adam Dawidziuk; Aleksander Jamsheer
Journal:  Front Genet       Date:  2020-11-11       Impact factor: 4.599

9.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330
  9 in total

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