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American Journal of Gastroenterology, ISSN 0002-9270, 02/2016, Volume 111, Issue 2, pp. 275 - 284
OBJECTIVES: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features... 
TURCOT-SYNDROME | GENE-MUTATIONS | BRAIN-TUMOR | LYNCH-SYNDROME | COLORECTAL-CANCER | GERMLINE MUTATIONS | EARLY-ONSET | MSH6 MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | PMS2 MUTATIONS | CHILDHOOD | Colorectal Neoplasms - surgery | Melanoma - etiology | MutL Protein Homolog 1 | Adenoma - surgery | Prospective Studies | Brain Neoplasms - etiology | Adenoma - genetics | Glioma - etiology | Adenocarcinoma - etiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - physiopathology | DNA Repair Enzymes - genetics | Child, Preschool | Male | Brain Neoplasms - complications | Young Adult | Colorectal Neoplasms - etiology | Leukemia - etiology | Kidney Neoplasms - etiology | Germ-Line Mutation | Adult | Female | Adenocarcinoma - genetics | Mismatch Repair Endonuclease PMS2 | Neoplastic Syndromes, Hereditary - genetics | Retrospective Studies | Nuclear Proteins - genetics | Child | Intestinal Neoplasms - genetics | Intestinal Neoplasms - surgery | Brain Neoplasms - genetics | Adenoma - etiology | Intestinal Neoplasms - etiology | DNA-Binding Proteins - genetics | Colorectal Neoplasms - physiopathology | Phenotype | Intestine, Small - surgery | Lymphoma - etiology | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Alleles | Neoplastic Syndromes, Hereditary - complications | Wilms Tumor - etiology | Neoplastic Syndromes, Hereditary - physiopathology | Adenosine Triphosphatases - genetics | Colorectal Neoplasms - complications | Adenocarcinoma - surgery | Index Medicus
Journal Article
Clinical Immunology, ISSN 1521-6616, 2016, Volume 178, pp. 39 - 44
Abstract Background Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in... 
Allergy and Immunology | Adrenal Epstein–Barr virus (EBV)-related Leiomyoma | Hyper-IgE syndrome | Novel mutations | DOCK8 deficiency | Progressive multifocal leukoencephalopathy | Slow virus | Leiomyoma | HOMOZYGOUS DELETION | BONE-MARROW-TRANSPLANTATION | IMMUNE-DEFICIENCY | Adrenal Epstein Barr virus (EBV)-related | IMMUNOLOGY | STAT3 MUTATION | LUNG-CANCER | SMOOTH-MUSCLE TUMORS | STEM-CELL TRANSPLANTATION | ADRENAL-GLAND | Job Syndrome - immunology | Recurrence | Job Syndrome - genetics | Job Syndrome - therapy | Humans | Nasopharyngeal Neoplasms - virology | Child, Preschool | Male | Lymphoma, Large B-Cell, Diffuse - etiology | Mutation, Missense | Leiomyoma - etiology | Young Adult | Leiomyoma - virology | Epstein-Barr Virus Infections - etiology | Female | Child | Nasopharyngeal Neoplasms - etiology | Eosinophilia - etiology | Guanine Nucleotide Exchange Factors - genetics | Hematopoietic Stem Cell Transplantation | Cholangitis, Sclerosing - etiology | Esophagitis - etiology | Eczema - etiology | Lymphoma, Large B-Cell, Diffuse - virology | Adrenal Gland Neoplasms - virology | Adrenal Gland Neoplasms - etiology | Magnetic Resonance Imaging | Job Syndrome - complications | Pedigree | Adolescent | Leukoencephalopathy, Progressive Multifocal - etiology | Consanguinity | Leukoencephalopathy, Progressive Multifocal - diagnostic imaging | Leukoencephalopathy, Progressive Multifocal - pathology | Herpes Simplex - etiology | Staphylococcal Infections - etiology | Gene mutations | Health aspects | Genetic aspects | Index Medicus
Journal Article
Journal Article
Journal Article
Occupational and Environmental Medicine, ISSN 1351-0711, 06/2014, Volume 71, Issue 6, pp. 398 - 404
Journal Article
Nature Medicine, ISSN 1078-8956, 08/2011, Volume 17, Issue 8, pp. 941 - 943
Journal Article
PLoS Computational Biology, ISSN 1553-734X, 06/2012, Volume 8, Issue 6, pp. e1002531 - e1002531
Journal Article
Journal Article
06/2011
A 67 year old female presented with generalized weakness, falls and recurrent high grade fevers for 5 - 6 weeks. Physical findings included high grade... 
Fever Unknown Origin | PET scan | lymphoma | Nedeni bilinmeyen ateş, lenfoma, PET BT
Web Resource
Cancer Epidemiology Biomarkers & Prevention, ISSN 1055-9965, 10/2006, Volume 15, Issue 10, pp. 1829 - 1834
Journal Article