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■ Abbreviation / Long Form : CED / Cranioectodermal dysplasia

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Total Number of Papers: 15
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Abbreviation:   CED  (>> Co-occurring Abbreviation)
Long Form:   Cranioectodermal dysplasia
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2018 Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis. IFT, KO
2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. ATD, EvC, SRPS
2018 Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies. IFT
2016 Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. NGS
2014 Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. ---
2010 Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. ---
2010 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. ---
2009 Connective tissue involvement in two patients with features of cranioectodermal dysplasia. ---
2009 Cranioectodermal dysplasia: a probable ciliopathy. ---
10  2008 A mutation in hairless dogs implicates FOXI3 in ectodermal development. ---
11  2006 Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia. TIN
12  2005 Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. CMSD
13  1997 Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome) ---
14  1993 Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). SRPS
15  1984 Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome. ---