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Toplam kayıt 191, listelenen: 71-80
Successful Haematopoietic Stem Cell Transplantation in 44 Children from Healthy Siblings Conceived after Preimplantation Hla Matching
(Elsevier Sci Ltd, 2014)
Haematopoietic stem cell transplantation (HSCT) remains the best therapeutic option for many acquired and inherited paediatric haematological disorders. Unfortunately, the probability of finding an HLA matched donor is ...
Stimulus-Induced Myoclonus Treated Effectively With Clonazepam In Genetically Confirmed Coffin–Lowry Syndrome
(2014)
Purpose Coffin–Lowry syndrome (CLS) is a rare X-linked semidominant syndromic genetic disorder that is characterized by typical facial and radiologic findings, psychomotor and growth retardation, and various skeletal ...
The Phenotype Of Tnf Receptor-Associated Autoinflammatory Syndrome (Traps) At Presentation: A Series Of 158 Cases From The Eurofever/Eurotraps International Registry
(2014)
Objective To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international ...
Mitochondrial Serine Protease Htra2 P.G399S In A Kindred With Essential Tremor And Parkinson Disease
(Natl Acad Sciences, 2014)
Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the ...
Mefv Mutation Frequency And Effect On Disease Severity In Ankylosing Spondylitis
(Tubitak Scientific & Technical Research Council Turkey, 2014)
Background/aim: To define the frequency of familial Mediterranean fever gene (MEFV) mutations in ankylosing spondylitis (AS) and describe different clinical aspects of MEFV mutation carrier and noncarrier AS patients. ...
Need For Comprehensive Hormonal Workup In The Management Of Adrenocortical Tumors In Children
(2014)
Objective: Clinical findings do not reflect the excess hormonal status in adrenocortical tumors (ACTs) in children. Identification of abnormal hormone secretion may help provide the tumor marker and delineate those ...
Results of Radiofrequency Ablation in Children with Tachycardia-Induced Cardiomyopathy
(Turkish Soc Cardiology, 2014)
Objective: Tachycardia-induced cardiomyopathy (TIC) is a rare but potentially curable cause of dilated cardiomyopathy. Data on radiofrequency ablation (RFA) for TIC is limited. The aim of this study is to present our ...
Mutations In Cspp1 Cause Primary Cilia Abnormalities And Joubert Syndrome With Or Without Jeune Asphyxiating Thoracic Dystrophy
(Cell Press, 2014)
Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 ...