Affiliation: Centre de Recherche Public-Sant
- Simple DNA extraction method for dried blood spots and comparison of two PCR assays for diagnosis of vertical human immunodeficiency virus type 1 transmission in RwandaA Fischer
Retrovirology Laboratory, CRP Sante, Centre Hospitalier de Luxembourg, Luxembourg
J Clin Microbiol 42:16-20. 2004..We conclude that this simple rapid DNA extraction method on DBS in combination with both detection methods gave a reliable molecular diagnosis of HIV-1 infection in children born to HIV-infected mothers...
- Antiviral efficacy and resistance in patients on antiretroviral therapy in Kigali, Rwanda: the real-life situation in 2002A Fischer
Centre Hospitalier de Luxembourg Retrovirology Laboratory, CRP Sante, Luxembourg
HIV Med 7:64-6. 2006..Consequently the major objective for the ESTHER programme to improve the situation in Rwanda will be to reduce the drug shortage and facilitate the financial accessibility of the treatments...
- Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice siteI Santisteban
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
Hum Mutat 5:243-50. 1995..Replacement of these small hydrophobic Ala residues with the charged, more bulky Asp side chain may distort ADA structure and affect enzyme stability or folding...
- The complex evolutionary history of gorillas: insights from genomic dataO Thalmann
Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
Mol Biol Evol 24:146-58. 2007..9-1.6 MYA and subsequent, primarily male-mediated gene flow until approximately 80,000-200,000 years ago. Furthermore, simulations revealed that more gene flow took place from eastern to western gorilla populations than vice versa...
- Transcriptional up-regulation of histamine receptor-1 in epithelial, mucus and inflammatory cells in perennial allergic rhinitisQ T Dinh
Department of Internal Medicine, Charite Universitatsmedizin Berlin, Berlin, Germany
Clin Exp Allergy 35:1443-8. 2005..The present study aimed to explore H1R and H2R expression in complex tissues of the nasal mucosa of perennial allergic rhinitis (PAR)...
- [HIV-associated cerebral toxoplasmosis -- review and retrospective analysis of 36 patients]S Happe
Abteilung Klinische Neurophysiologie, Georg August Universitat Gottingen
Nervenarzt 73:1174-8. 2002..Indications and problems of stereotactic biopsy are discussed...
- Symptoms and HPV infection of the vulva: clinical manifestations or mere coincidence?B Ayer
Cytology Department, Westmead Hospital, Sydney, New South Wales, Australia
Aust N Z J Obstet Gynaecol 41:443-6. 2001..5% of asymptomatic women compared to 74% of symptomatic women (p = 0.007). This study suggests that vulvar symptoms are not clinical manifestations of HPV infection, but may be caused by dermatitis rather than HPV infection per se...
- Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosisF Altare
Laboratoire de Genetique Humaine des Maladies Infectieuses, Universite Rene Descartes, INSERM U550, Faculte de Medecine Necker, Paris, France
J Infect Dis 184:231-6. 2001..A diagnosis of IL-12Rbeta1 deficiency should therefore be considered in selected patients with severe tuberculosis, despite their resistance to BCG and a lack of atypical mycobacteriosis...
- Expression and function of TrkB variants in developing sensory neuronsN Ninkina
School of Biological and Medical Sciences, University of St Andrews, UK
EMBO J 15:6385-93. 1996..Our results suggest that BDNF responsiveness in sensory neurons during development is modulated by the relative levels of catalytic and non-catalytic TrkB...
- Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotypeI Santisteban
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
J Clin Invest 92:2291-302. 1993..Tissue-specific variation in splicing efficiency may also ameliorate disease severity in patients with splicing mutations...
- CD40 ligand mutations in x-linked immunodeficiency with hyper-IgMJ P DiSanto
INSERM U 132, Hopital Necker Enfants Malades, Paris, France
Nature 361:541-3. 1993..These genetic alterations with abnormal CD40L expression provide a molecular basis for immunoglobulin isotype switch defects observed in this immunodeficiency...
- Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cellsJ P DiSanto
Institut National de la Santé et de la Recherche Médicale U132, Hopital Necker Enfants Malades, Paris, France
Proc Natl Acad Sci U S A 91:9466-70. 1994..This atypical SCIDX1 patient demonstrates that certain IL-2R gamma chain abnormalities can also result in partial immunodeficiency phenotypes, potentially through differential effects on the IL-2, IL-4, or IL-7 receptor systems...
- Restriction-mediated differential display (RMDD)A Fischer
F. Hoffmann-La Roche AG, Basel, Switzerland
Curr Protoc Mol Biol . 2001....