Now showing items 11-20 of 52
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
(Nature Publishing, 2002)
Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal ...
Expression of IFITM1 in chronic myeloid leukemia patients
We investigated the peripheral blood gene expression profile of interferon induced transmembrane protein 1 (IFITM1) in sixty chronic myeloid leukemia (CML) patients classified according to new prognostic score (NPS). IFITM1 ...
A retrospective comparison of allogeneic peripheral blood stem cell and bone marrow transplantation results from a single center: a focus on the incidence of graft-vs.-host disease and relapse
To detect the effect of the stem cell source, allogeneic peripheral blood stem cell transplantations (alloPBSCTs) performed between 1995 and 1997 from human leukocyte antigen (HLA)-identical siblings in 40 patients with ...
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations
(Cell Press, 2000)
Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our ...
SOX1 antibodies are markers of paraneoplastic Lambert-Eaton myasthenic syndrome
(Lippincott Williams & Wilkins, 2008)
BACKGROUND/OBJECTIVE: We reported that 43% of patients with Lambert-Eaton myasthenic syndrome (LEMS) and small cell lung cancer (SCLC) had an antibody called anti-glial nuclear antibody (AGNA), defined by the immunoreaction ...
Skewed X-chromosome inactivation in scleroderma
(Springer New York, 2008)
Scleroderma is a female-prevalent autoimmune disease of unclear etiology. Two fundamental gender differences, skewed X-chromosome inactivation (XCI) and pregnancy-related microchimerism, have been implicated in scleroderma. ...
X chromosome inactivation and female predisposition to autoimmunity
(Springer New York, 2008)
[No abstract available]
Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction
(W.B. Saunders, 2015)
Background Aims Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants ...
TP53 mutations in familial breast cancer: Functional aspects
(John Wiley & Sons, Inc., 2003)
Mutation in p53 (TP53) remains one of the most commonly described genetic events in human neoplasia. The occurrence of mutations is somewhat less common in sporadic breast carcinomas than in other cancers, with an overall ...
Endothelial progenitor cells display clonal restriction in multiple myeloma
(BioMed Central Ltd., 2006)
Background: In multiple myeloma (MM), increased neoangiogenesis contributes to tumor growth and disease progression. Increased levels of endothelial progenitor cells (EPCs) contribute to neoangiogenesis in MM, and, ...