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Toplam kayıt 466, listelenen: 11-20
Is the Novel Sckl3 at 14Q23 the Predominant Seckel Locus?
(Nature Publishing Group, 2003)
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel ...
Increased Frequency Of Extremely Skewed X Chromosome Inactivation In Juvenile Idiopathic Arthritis
(Wiley-Blackwell, 2009)
Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...
Association Of The Asn306Ser Variant Of The Sp4 Transcription Factor And An Intronic Variant In The Β-Subunit Of Transducin With Digenic Disease
(2007)
Purpose SP4 is a transcription factor abundantly expressed in retina that binds to the GC promoter region of photoreceptor signal transduction genes. We have previously shown that SP4 may be involved in the transcriptional ...
Cc2D2A Is Mutated In Joubert Syndrome And Interacts With The Ciliopathy-Associated Basal Body Protein Cep290
(Cell Press, 2008)
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. ...
Decreased Prevalence Of Atopy In Paediatric Patients With Familial Mediterranean Fever
(B M J Publishing Group, 2004)
Background: A number of inflammatory diseases, including familial Mediterranean fever (FMF), have been shown to be driven by a strongly dominated Th1 response, whereas the pathogenesis of atopic diseases is associated with ...
Dysplastic Changes in Idiopathic Thrombocytopenic Purpura and The Effect of Corticosteroids to Increase Dysplasia and Cause Hyperdiploid Macropolycytes
(Wiley-Liss, 2000)
This study evaluates the dysplastic hematological changes in nine patients with idiopathic thrombocytopenic purpura (ITP) in 11 attacks, before and after corticosteroid treatment. The pretreatment blood smears of patients ...
Functional Capacity In Severe Chronic Obstructive Pulmonary Disease
(Saudi Med J, 2005)
Objective: To investigate the functional capacity in patients with severe chronic obstructive pulmonary disease (COPD) and healthy subjects. Methods: The present study was conducted in the School of Physical Therapy and ...
Intracranial Ependymomas in Childhood - A Retrospective Review of Sixty-Two Children
(Scandinavian University Press, 2000)
Of the 818 tumours of the central nervous system diagnosed between 1972 and 1991, 62 patients (35 males and 27 females) with histopathologically confirmed ependymomas were treated and followed-up at the Children's Hospital ...
Is a 2 : 1 Ratio of Standard Who Ors to Plain Water Effective in the Treatment of Moderate Dehydration
(Oxford Univ Press, 2003)
Increased amounts of plain water have been recommended ad libitum during rehydration treatment with oral rehydration solutions (ORS) in moderately dehydrated cases in order to decrease the hypertonicity of ORS. However, ...