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Toplam kayıt 468, listelenen: 211-220
Mutations In Slc34A2 Cause Pulmonary Alveolar Microlithiasis And Are Possibly Associated With Testicular Microlithiasis
(Cell Press, 2006)
Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, ...
A Comparative Study of Alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests That The Hypoglycosylation of Alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity
(Wiley, 2009)
Hypoglycosylation of alpha-dystroglycan underpins a subgroup of muscular dystrophies ranging from congenital onset of weakness, severe brain malformations and death in the perinatal period to mild weakness in adulthood ...
Myeloprotective Effect Of Short-Course High-Dose Methylprednisolone Treatment Before Consolidation Therapy In Children With Acute Myeloblastic Leukemia
(Wiley, 2005)
In our previous studies, short-course high-dose methylprednisolone (HDMP) has been shown to shorten the chemotherapy-induced neutropenic period by stimulating the CD34(+) hematopoietic progenitor cells in children with ...
Natural History And Early Diagnosis Of Lad-1/Variant Syndrome
(Amer Soc Hematology, 2007)
The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained ...
Activation-Induced Cytidine Deaminase (AID) Deficiency Causes The Autosomal Recessive Form Of The Hyper-Igm Syndrome (HIGM2)
(Cell Press, 2000)
The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in ...
Proton Mr Spectroscopy: Higher Right Anterior Cingulate N-Acetylaspartate/Choline Ratio in Asperger Syndrome Compared with Healthy Controls
(Amer Soc Neuroradiology, 2007)
BACKGROUND AND PURPOSE: One former study reported higher prefrontal N-acetylaspartate (NAA) levels in patients with Asperger syndrome (AS). The objective of the current study was to test the hypothesis that patients with ...
Life-Threatening Neurological Complications after Bone Marrow Transplantation in Children
(Nature Publishing Group, 2005)
Neurological complications may occur in BMT recipients (11-59%), frequently contributing to morbidity or mortality. They are the main causes of death in 10-15%. Life-threatening neurological complications were seen in 11 ...
Lead Extraction in Children and Young Adults Using Different Techniques
(Karger, 2009)
Objective: To describe our experience with removal of pacing lead in children using different techniques. Patients and Methods: Between 1999 and 2006, removal of 39 leads was attempted in 30 patients: 21 males and 9 females ...
Mutation Analysis Of The Entire Pkd1 Gene: Genetic And Diagnostic Implications
(Cell Press, 2001)
Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing ...