Results 141 to 150 of about 125,515 (325)

Highly Active Antiretroviral Therapy Interruption: Predictors and Virological and Immunologic Consequences

open access: yesJournal of Acquired Immune Deficiency Syndromes, 2006
G. Touloumi   +5 more
semanticscholar   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

The crucial impact of NIH funding on allergy/immunology patient care and research. [PDF]

open access: yesJ Allergy Clin Immunol Glob
Barrett NA   +12 more
europepmc   +1 more source

Performance of Immunologic Responses in Predicting Viral Load Suppression: Implications for Monitoring Patients in Resource-Limited Settings

open access: yesJournal of Acquired Immune Deficiency Syndromes, 2006
D. Moore   +5 more
semanticscholar   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

From syndromic clues to diagnosis: understanding CARD11-driven disorders. [PDF]

open access: yesFront Immunol
García-Martínez E   +5 more
europepmc   +1 more source

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe   +19 more
wiley   +1 more source

Clinical, Virologic, and Immunologic Response to Efavirenz-or Protease Inhibitor–Based Highly Active Antiretroviral Therapy in a Cohort of Antiretroviral-Naive Patients With Advanced HIV Infection (EfaVIP 2 Study)

open access: yesJournal of Acquired Immune Deficiency Syndromes, 2004
F. Pulido   +12 more
semanticscholar   +1 more source

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

open access: yesAnimal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem   +5 more
wiley   +1 more source

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