Literature DB >> 3612717

Postaxial acrofacial dysostosis (Miller) syndrome.

D Donnai, H E Hughes, R M Winter.   

Abstract

Entities:  

Mesh：

Year:  1987        PMID： 3612717      PMCID： PMC1050150          DOI： 10.1136/jmg.24.7.422

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  3 in total

1.  [An extensive form of mandibulo-facial dysostosis].

Authors:  E Genée
Journal:  J Genet Hum       Date:  1969-05

2.  Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling.

Authors:  R M Fineman
Journal:  J Pediatr       Date:  1981-01       Impact factor: 4.406

3.  Postaxial acrofacial dysostosis syndrome.

Authors:  M Miller; R Fineman; D W Smith
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406
  3 in total
  8 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.  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

3.  Anaesthetic management of Miller's syndrome.

Authors:  G W Stevenson; S C Hall; B S Bauer; F A Vicari; F L Seleny
Journal:  Can J Anaesth       Date:  1991-11       Impact factor: 5.063

4.  Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.

Authors:  A L Ogilvy-Stuart; A C Parsons
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

5.  Orodental findings in postaxial acrofacial dysostosis.

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

6.  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

7.  Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.

Authors:  JingXian Fang; Takeshi Uchiumi; Mikako Yagi; Shinya Matsumoto; Rie Amamoto; Shinya Takazaki; Haruyoshi Yamaza; Kazuaki Nonaka; Dongchon Kang
Journal:  Biosci Rep       Date:  2013-02-05       Impact factor: 3.840

8.  Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.

Authors:  JingXian Fang; Takeshi Uchiumi; Mikako Yagi; Shinya Matsumoto; Rie Amamoto; Toshiro Saito; Shinya Takazaki; Tomotake Kanki; Haruyoshi Yamaza; Kazuaki Nonaka; Dongchon Kang
Journal:  Biosci Rep       Date:  2012-12       Impact factor: 3.840
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.