6 research outputs found
The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from
A worldwide perspective on the management and control of Dothistroma needle blight
Dothistroma needle blight (DNB) caused by Dothistroma septosporum and Dothistroma
pini is a damaging disease of pine in many countries. The disease led to the abandonment
of planting susceptible Pinus species in parts of Africa, Asia, Australasia, Europe
and North America. Although the disease can be effectively controlled using copper
fungicides, this chemical is only routinely applied in forests in New Zealand and
Australia. Other management tactics aimed at making conditions less favourable for
disease development, such as thinning or pruning, may be effective on some, but not
all, sites. Disease avoidance, by planting non-susceptible species, is the most common
form of management in Europe, along with deployment of hosts with strong disease
resistance. Although D. septosporum is present almost everywhere Pinus is grown, it is
important that an effort is maintained to exclude introductions of new haplotypes that
could increase virulence or enable host resistance to be overcome. A global strategy to
exclude new introductions of Dothistroma and other damaging forest pathogens, facilitated
by collaborative programmes and legislation, is needed.This study was partially supported by the EU COST Action FP1102
DIAROD (Determining Invasiveness and Risk of Dothistroma, http://
www.cost.eu/COST_Actions/fps/FP1102)http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1439-03292017-10-31hb2017Forestry and Agricultural Biotechnology Institute (FABI)GeneticsPlant Scienc