Antley-Bixler Syndrome Phenotype

Known as: Antley-Bixler Syndrome Phenotype [Disease/Finding], Antley Bixler Syndrome Phenotype, Syndrome Phenotype, Antley-Bixler 
An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral… (More)
National Institutes of Health

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Antley-Bixler Syndrome with Disordered SteroidogenesisAntley-Bixler Syndrome, Autosomal Dominant
Fibroblast Growth Factor Receptor 2In BloodMicrobiologicalNADPH-Ferrihemoprotein Reductase
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Papers overview

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2012
2012
Assortative flocking in crossbills and implications for ecological speciation.
How reproductive isolation is related to divergent natural selection is a central question in speciation. Here, we focus on… (More)
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2005
2005
Mutator phenotype confers advantage in Escherichia coli chronic urinary tract infection pathogenesis.
It has been suggested that mutator phenotype could be associated with an increase in virulence, but to date experimental… (More)
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2004
2004
Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties.
Familial hypertrophic cardiomyopathy (FHC) is associated with mutations in 11 genes encoding sarcomeric proteins. Most families… (More)
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2003
2003
Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.
We observed the development of phenotypic hereditary haemochromatosis in a non-hereditary haemochromatosis liver transplant… (More)
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Review
2000
Review
2000
A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15).
This report describes a nearly 25-year-old female with an interstitial deletion of band 14 in the long arm of one chromosome 6… (More)
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1996
1996
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
Genetic linkage studies have linked congenital contractural arachnodactyly (CCA), a usually mild heritable connective-tissue… (More)
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1996
1996
Dynamic cranioplasty for brachycephaly.
In craniofacial surgery, the most common techniques for treatment of brachycephaly have been either to let the forehead float on… (More)
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Review
1994
Review
1994
Development of motoneuronal phenotype.
 
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1986
1986
Further evidence for the lack of association between acetylator phenotype and systemic lupus erythematosus.
An association between host acetylator phenotype and idiopathic systemic lupus erythematosus (SLE) has been sought for over a… (More)
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1984
1984
Fertile male tortoiseshell cats. Mosaicism due to gene instability?
Two fertile male tortoiseshell Burmese cats with atypical coat color distribution were found to have normal 38XY karyotypes… (More)
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