Per ulteriori informazioni selezionare i riferimenti di interesse.
Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome
CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY
Common variable immunodeficiency (CVID) in a family: an autosomal dominantmode of inheritance
NETHERLANDS JOURNAL OF MEDICINE
Increased urinary leukotriene E-4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome
ARCHIVES OF DISEASE IN CHILDHOOD
Enterovirus antibody titers after IVIG replacement in agammaglobulinemic children
CLINICAL MICROBIOLOGY AND INFECTION
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant
HUMAN MOLECULAR GENETICS
Serum ImmunoglobulinD in infants and children
SCANDINAVIAN JOURNAL OF IMMUNOLOGY
Pharmacokinetics of indinavir and low-dose ritonavir in children with HIV-1 infection
AIDS
Clinical and virologic response to combination treatment with indinavir, zidovudine, and lamivudine in children with human immunodeficiency virus-1 infection: A multicenter study in The Netherlands
JOURNAL OF PEDIATRICS
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
A DOUBLE MISSENSE MUTATION IN THE ATM GENE OF A DUTCH FAMILY WITH ATAXIA-TELANGIECTASIA
Human genetics
NIBRIN, A NOVEL DNA DOUBLE-STRAND BREAK REPAIR PROTEIN, IS MUTATED INNIJMEGEN BREAKAGE SYNDROME
Cell
LOCALIZATION OF THE ICF SYNDROME TO CHROMOSOME-20 BY HOMOZYGOSITY MAPPING
American journal of human genetics
FINE LOCALIZATION OF THE NIJMEGEN BREAKAGE SYNDROME GENE TO 8Q21 - EVIDENCE FOR A COMMON FOUNDER HAPLOTYPE
American journal of human genetics
T-CELL SUBSETS AND T-CELL FUNCTION IN CARTILAGE-HAIR HYPOPLASIA
Scandinavian journal of immunology
MAPPING NIJMEGEN-BREAKAGE-SYNDROME TO 8Q21 AND CONSTRUCTION OF A RADIATION HYBRID MAP OF THE D8S1757-D8S506 REGION
American journal of human genetics
FIRST PATIENTS WITH HYPERIMMUNOGLOBULINEMIA-D SYNDROME FROM THE UNITED-STATES
The Pediatric infectious disease journal
CD4 DEFICIENCY IN MYELODYSPLASTIC SYNDROME WITH MONOSOMY-7
European journal of pediatrics
ALTERED IMMUNOGLOBULIN CONCENTRATIONS AND LIGHT-CHAIN RATIOS IN JUVENILE-ONSET MIXED CONNECTIVE-TISSUE DISEASE
Clinical rheumatology
A DYSBALANCED IMMUNE-SYSTEM IN CRYPTOGENIC LENNOX-GASTAUT SYNDROME
Scandinavian journal of immunology
NIJMEGEN-BREAKAGE-SYNDROME - A PROGRESS REPORT
International journal of radiation biology
IMMUNOGLOBULIN TREATMENT IN EPILEPSY, A REVIEW OF THE LITERATURE
Epilepsy research
CEREBROSPINAL-FLUID EXAMINATIONS IN CRYPTOGENIC WEST AND LENNOX-GASTAUT SYNDROME BEFORE AND AFTER INTRAVENOUS IMMUNOGLOBULIN ADMINISTRATION
Epilepsy research
SEROLOGIC HLA TYPING IN CRYPTOGENIC LENNOX-GASTAUT SYNDROME
Epilepsy research
LIGHT-CHAIN RATIOS AND CONCENTRATIONS OF IMMUNOGLOBULIN-G, IMMUNOGLOBULIN-A, AND IMMUNOGLOBULIN-M IN CHILDHOOD COMMON ACUTE LYMPHOBLASTIC-LEUKEMIA
Pediatric hematology and oncology
LATE-ONSET ATAXIA-TELANGIECTASIA IN 2 BROTHERS PRESENTING WITH JUVENILE RESTING TREMOR
Movement disorders
LOCATION OF THE GENE CAUSING HYPERIMMUNOGLOBULINEMIA-D AND PERIODIC-FEVER-SYNDROME DIFFERS FROM THAT FOR FAMILIAL MEDITERRANEAN FEVER
Human genetics
ICF SYNDROME - A NEW CASE AND REVIEW OF THE LITERATURE
Human genetics
HIGH-DOSE INTRAVENOUS IMMUNOGLOBULIN TREATMENT IN CRYPTOGENIC WEST AND LENNOX-GASTAUT SYNDROME - AN ADD-ON STUDY
European journal of pediatrics
POSTMORTEM FINDINGS IN THE NIJMEGEN BREAKAGE SYNDROME
Pediatric pathology
HYPERIMMUNOGLOBULINEMIA-D AND PERIODIC FEVER SYNDROME - THE CLINICAL SPECTRUM IN A SERIES OF 50 PATIENTS
Medicine
IMMUNOGLOBULIN TREATMENT IN HUMAN AND EXPERIMENTAL EPILEPSY
Journal of Neurology, Neurosurgery and Psychiatry
RAISED IGA KAPPA LAMBDA RATIO IN JUVENILE CHRONIC ARTHRITIS/
Clinical and experimental rheumatology
ANTIBODY DEFICIENCY AND ISOLATED GROWTH-HORMONE DEFICIENCY IN A GIRL WITH MULIBREY NANISM
European journal of pediatrics