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Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes
(2011)
We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur ...
Left-handedness and parental psychopathology in the course of bronchial asthma in childhood
(2001)
Psychopathology in the family seems to have a role in the course of a child's asthma. The purpose of this study was to examine the possible impact of parental anxiety and depression on the course of asthma, as well as to ...
FIP1L1-PDGFRA molecular analysis in the differential diagnosis of eosinophilia
(2009)
Background: Primary eosinophlia associated with the FIP1L1-PDGFRA rearrangement represents a subset of chronic eosinophilic leukaemia (CEL) and affected patients are very sensitive to imatinib treatment. This study was ...
Association of α-synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset
(2006)
The α-synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80-5.87). ...
Psychiatric symptoms associated with scleroderma
(2001)
Background: The prevalence of psychiatric symptoms and hostility factors in patients with scleroderma, although a matter of clinical interest, it is rather poorly studied. Methods: Thirty female patients with scleroderma ...
An NOS3 haplotype is protective against hypertension in a caucasian population
(2010)
The endothelial nitric oxide synthase gene (NOS3) has been implicated in the development of hypertension, although the specific role of variants and haplotypes has not been clarified. In this study, the association of three ...
Association of anti-CCP positivity and carriage of TNFRII susceptibility variant with anti-TNF-α response in rheumatoid arthritis
(2011)
Objective: To investigate the possible influence of tumour necrosis factoralpha (TNF), TNF receptor I (TNFRI) and TNF receptor II (TNFRII) gene polymorphisms on anti-TNF treatment responsiveness, stratified by autoantibody ...
Autoantibodies in patients with systemic sclerosis and cancer: A case-control study
(2003)
Objective. To determine the prevalence of specific autoantibodies in a cohort of patients with systemic sclerosis (SSc) and a diagnosis of cancer, and to compare it to that in a group of patients with SSc who were never ...
'Single puncture' mini-percutaneous nephrolithotomy under assisted local anesthesia
(2010)
Objective: To evaluate the possibility of performing minipercutaneous nephrolithotomy (mini-PCNL) under assisted local anesthesia in a selected group of patients. Patients and Methods: Twenty-one patients with unilateral ...