Literature DB >> 1227559

Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.

R Antley, D Bixler.   

Abstract

Entities:  

Mesh：

Year:  1975        PMID： 1227559

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  38 in total

Review 1.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

2.  Picture of the month. Antley-Bixler syndrome.

Authors:  M G Butler; S Hassell; M Feingold; W W Tunnessen
Journal:  Am J Dis Child       Date:  1991-06

3.  Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Authors:  W Reardon; A Smith; J W Honour; P Hindmarsh; D Das; G Rumsby; I Nelson; S Malcolm; L Adès; D Sillence; D Kumar; C DeLozier-Blanchet; S McKee; T Kelly; W L McKeehan; M Baraitser; R M Winter
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

4.  Use of the term "Antley-Bixler syndrome": minimizing confusion.

Authors:  Deborah Cragun; Robert J Hopkin
Journal:  Am J Hum Genet       Date:  2005-08       Impact factor: 11.025

Review 5.  Defects of steroidogenesis.

Authors:  A Biason-Lauber; M Boscaro; F Mantero; G Balercia
Journal:  J Endocrinol Invest       Date:  2010-02-24       Impact factor: 4.256

6.  Radiographic findings in Shprintzen-Goldberg syndrome.

Authors:  G Nishimura; T Nagai
Journal:  Pediatr Radiol       Date:  1996-11

7.  Antley-Bixler syndrome with radioulnar synostosis.

Authors:  Maja E Hurley; Martin J White; Andrew J Green; Jerry Kelleher
Journal:  Pediatr Radiol       Date:  2003-09-26

8.  Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase.

Authors:  Michel Kranendonk; Christopher C Marohnic; Satya P Panda; Maria Paula Duarte; José Santos Oliveira; Bettie Sue Siler Masters; José Rueff
Journal:  Arch Biochem Biophys       Date:  2008-04-20       Impact factor: 4.013

9.  A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Authors:  Jung Min Ko; Chong-Kun Cheon; Gu-Hwan Kim; Han-Wook Yoo
Journal:  Eur J Pediatr       Date:  2008-10-14       Impact factor: 3.183

10.  Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

Authors:  Taninee Sahakitrungruang; Ningwu Huang; Meng Kian Tee; Vishal Agrawal; William E Russell; Patricia Crock; Nuala Murphy; Claude J Migeon; Walter L Miller
Journal:  J Clin Endocrinol Metab       Date:  2009-10-16       Impact factor: 5.958
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