Ara
Toplam kayıt 466, listelenen: 41-50
Atypical Choroid Plexus Papilloma: Clinical Experience in the Cpt-Siop-2000 Study
(Springer, 2009)
Atypical choroid plexus papilloma (APP) represents a novel intermediate-grade subtype of choroid plexus tumor (CPT), the clinical outcome of which has not been described yet. We present the first analysis of a group of APP ...
Detecting Minimal Residual Disease In Neuroblastoma: The Superiority Of A Panel Of Real-Time Quantitative Pcr Markers
(Amer Assoc Clinical Chemistry, 2009)
BACKGROUND: PCR-based detection of minimal residual disease (MRD) in neuroblastoma (NB) patients can be used for initial staging and monitoring therapy response in bone marrow (BM) and peripheral blood (PB). PHOX2B has ...
Gross Deletions Involving Ighm, Btk, Or Artemis: A Model For Genomic Lesions Mediated By Transposable Elements
(Cell Press, 2008)
Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency ...
Lad-1/Variant Syndrome Is Caused by Mutations in Fermt3
(Amer Soc Hematology, 2009)
Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting ...
Griscelli Syndrome Restricted To Hypopigmentation Results From A Melanophilin Defect (Gs3) Or A Myo5A F-Exon Deletion (Gs1)
(Amer Soc Clinical Investigation Inc, 2003)
Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the ...
Interleukin (Il)-12 And Il-23 Are Key Cytokines For Immunity Against Salmonella In Humans
(Univ Chicago Press, 2004)
Patients with inherited deficiency of the interleukin (IL)-12/IL-23-interferon (IFN)-gamma axis show increased susceptibility to invasive disease caused by the intramacrophage pathogens salmonellae and mycobacteria. We ...
Human Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Due To Tnfrsf11A (Rank) Mutations
(Cell Press, 2008)
Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but recently a subset of ...