Search Results - "Lederman, H"
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Cerebral abnormalities in adults with ataxia-telangiectasia
Published in American journal of neuroradiology : AJNR (01-01-2014)“…Ataxia-telangiectasia, an autosomal recessive disorder caused by defect of the ataxia-telangiectasia mutated gene, is characterized by progressive neurologic…”
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JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
Published in The Journal of clinical investigation (15-12-2000)“…X-linked autoimmunity-allergic disregulation syndrome (XLAAD) is an X-linked recessive immunological disorder characterized by multisystem autoimmunity,…”
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3
How to improve IVF–ICSI outcome by sperm selection
Published in Reproductive biomedicine online (01-05-2006)“…In previous studies, a new IVF method of intracytoplasmic morphologically selected sperm injection (IMSI) was introduced, based on motile sperm organellar…”
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Survival probability in ataxia telangiectasia
Published in Archives of disease in childhood (01-07-2006)“…Ataxia telangiectasia is a rare, multiorgan neurodegenerative disorder with enhanced vulnerability to cancer and infection. Median survival in two large…”
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Rate of tuberculosis infection in children and adolescents with household contact with adults with active pulmonary tuberculosis as assessed by tuberculin skin test and interferon-gamma release assays
Published in Epidemiology and infection (01-03-2016)“…Tuberculosis (TB) infection was evaluated in Brazilian immunocompetent children and adolescents exposed and unexposed (control group) to adults with active…”
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6
An Essential Role for BLNK in Human B Cell Development
Published in Science (American Association for the Advancement of Science) (03-12-1999)“…The signal transduction events that control the progenitor B cell (pro-B cell) to precursor B cell (pre-B cell) transition have not been well delineated. In…”
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Whole-body magnetic resonance imaging in the assessment of muscular involvement in juvenile dermatomyositis/polymyositis patients
Published in Scandinavian journal of rheumatology (01-01-2014)“…Objectives: Our aim was to demonstrate the benefit of whole-body magnetic resonance imaging (WBMRI) as a diagnostic modality in the detection of muscle…”
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Use of interferon alpha in intratumoral chemotherapy for cystic craniopharyngioma
Published in Child's nervous system (01-08-2005)“…This study analyzed the intratumoral activity of interferon alpha (IFN-alpha) in the treatment of cystic craniopharyngiomas. From January 2000 to January 2004,…”
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Longitudinal relationship of early life immunomodulatory T cell phenotype and function to development of allergic sensitization in an urban cohort
Published in Clinical and experimental allergy (01-03-2012)“…Summary Background Immunomodulatory T cells are thought to influence development of allergy and asthma, but early life longitudinal data on their phenotype and…”
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The use of joint-specific and whole-body MRI in osteonecrosis: a study in patients with juvenile systemic lupus erythematosus
Published in British journal of radiology (01-07-2011)“…This study aimed to estimate the prevalence of osteonecrosis (ON) in juvenile systemic lupus erythematosus (SLE) patients using joint-specific and whole-body…”
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Relationship between nonalcoholic fatty liver disease prevalence and visceral fat in obese adolescents
Published in Digestive and liver disease (01-02-2008)“…Abstract Background Visceral adiposity is the major risk factor for paediatric nonalcoholic fatty liver disease. Aims Determine the prevalence of nonalcoholic…”
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Response to immunization with recall and neoantigens after prolonged administration of an HIV-1 protease inhibitor-containing regimen
Published in AIDS (London) (07-01-2000)“…Objectives: To ascertain if immunization results in the restoration of responses to recall antigens, in the development of responses to presumed neoantigens,…”
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Quantitative neurologic assessment of ataxia-telangiectasia
Published in Neurology (11-04-2000)“…Ataxia telangiectasia (A-T) is a rare disorder with many distinctive neurologic features. Although there is substantial individual variation in the rate of…”
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Ocular motor abnormalities in ataxia telangiectasia
Published in Annals of neurology (01-09-1999)“…Although abnormal eye movements are a prominent feature of ataxia telangiectasia, the characteristics of the oculomotor dysfunction in the disease have been…”
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Proton MR spectroscopic imaging in ataxia-telangiectasia
Published in Neuropediatrics (01-08-2006)“…Ataxia-telangiectasia (A-T) is a recessively inherited neurodegenerative disorder with prominent progressive ataxia and cerebellar degeneration, as well as…”
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Helicobacter cinaedi bacteremia presenting as macules in an afebrile patient with X-linked agammaglobulinemia
Published in Infection (01-12-2004)“…We describe a 54-year-old man with X-linked agammaglobulinemia (XLA) and Helicobacter cinaedi bacteremia, who presented with tender, hyper-pigmented skin…”
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Published in Pediatrics (Evanston) (01-07-1998)“…Ataxia-telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder in which the diagnosis is obvious when ataxia and telangiectasia are both…”
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Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia
Published in The Journal of pediatrics (01-02-2000)“…Objectives: To determine whether patients with ataxia-telangiectasia exhibit oropharyngeal dysphagia with concomitant aspiration and to examine the…”
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The role of orexigenic and anorexigenic factors in an interdisciplinary weight loss therapy for obese adolescents with symptoms of eating disorders
Published in International journal of clinical practice (Esher) (01-05-2010)“…The aim of this study was to evaluate the role of orexigenic and anorexigenic factors in an interdisciplinary weight loss therapy for obese adolescents with…”
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Ultrasound evaluations of internal jugular vein punction techniques in children: the easiest method to reach the target area
Published in Pediatric surgery international (2009)“…The objective of this study is to determine the best way to access and the position in which the patients must remain in order to obtain the best transversal…”
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