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[Genetic testing in asymptomatic minors: a survey among French geneticists].
Arch Pediatr
July 2010
Centre de génétique et centre de référence maladies rares anomalies du développement et syndromes malformatifs, hôpital d'Enfants, CHU de Dijon, 10 boulevard Maréchal-de-Lattre-de-Tassigny, Dijon cedex, France.
Since their introduction, genetic tests have been carefully considered, with special attention to the release of information about the test and test results, the confidentiality of genetic information, the request and its motivation, and the psychological impact of the test. Careful consideration is needed when family members at risk are asymptomatic children or adolescents. Cautious reflection is warranted on whether and under which conditions genetic testing should be performed.
View Article and Find Full Text PDFFunctional and phenotypic characterization of the humanized BLT mouse model.
Curr Top Microbiol Immunol
June 2008
Department of Internal Medicine, Division of Infectious Diseases Y9.206, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Blvd., Dallas, TX 75390-9113, USA,
T cells play a central role in the development of immune responses. Patients lacking T cells because of genetic defects such as DiGeorge or Nezelof syndromes and patients infected with the human immunodeficiency virus are highly susceptible to infections and cancers. The lack of adequate in vivo models of T cell neogenesis have hindered the development and clinical implementation of effective therapeutic modalities aimed at treating these and other clinically important maladies.
View Article and Find Full Text PDF[Nezelof's syndrome].
Ryoikibetsu Shokogun Shirizu
May 2001
Department of Pediatric Oncology, Institute of Development, Aging, and Cancer, Tohoku University.
Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society.
Med Pediatr Oncol
September 1997
National Institutes of Health, Rocky Mountain Laboratories, Laboratory of Persistent Viral Diseases, Hamilton, MT 59840-2999, USA.
Pathologists and pediatric hematologist/ oncologists of the World Health Organization's Committee on Histiocytic/Reticulum Cell Proliferations and the Reclassification Working Group of the Histiocyte Society present a classification of the histiocytic disorders that primarily affect children. Nosology, based on the lineage of lesional cells and biological behavior, is related to the ontogeny of histiocytes (macrophages and dendritic cells of the immune system). Dendritic cell-related disorders of varied biological behavior are dominated by Langerhans cell histiocytosis, but separate secondary proliferations of dendritic cells must be differentiated.
View Article and Find Full Text PDFBiliary malformation with renal tubular insufficiency in two male infants: third family report.
Clin Genet
May 1996
Divisione XI, Malattie Metaboliche, Genetica Medica, Ospedale Pediatrico Regionale Giovanni XXIII, Bari, Italy.
We report two male sibs, born to non-consanguineous healthy parents, who showed arthrogryposis, cholestatic jaundice and tubular renal insufficiency. The liver biopsy of the first case showed scanty hypoplastic biliary ducts. This association, first reported by Lutz and Richner in 1973, is a distinct syndrome, characterized by intra-extrahepatic biliary hypoplasia, and described in McKusick's catalogue under the number 210550.
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