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nijmegen breakage syndrome - rare congenital syndrome with small head and immunodeficiency Definition for Nijmegen breakage Syndrome Nijmegen breakage syndrome (NBS) (also known as Berlin breakage syndrome and Seemanova syndrome) is a rare syndrome characterised by chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism. It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity and a strong predisposition to lymphoid malignancy. some common symptoms weak immune system some related diagnoses 1 - 7 of 53 diagnoses human immunodeficiency virus infections drugs and toxins cystic fibrosis carbon monoxide poisoning common variable immunodeficiency selective IgA deficiency food allergy   more do i have 'Nijmegen breakage Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'nijmegen breakage syndrome' 1 - 5 of 44 diagnostic tests Molecular Genetic Studies Nijmegen breakage Syndrome and Molecular Genetic Studies T-cell function Nijmegen breakage Syndrome and T-cell function natural killer (NK) cells Nijmegen breakage Syndrome and natural killer (NK) cells CMV serology Nijmegen breakage Syndrome and CMV serology Chromosomal analysis Nijmegen breakage Syndrome and Chromosomal analysis Complete Blood Count Nijmegen breakage Syndrome and Complete Blood Count Epstein Barr Virus serology Nijmegen breakage Syndrome and Epstein Barr Virus serology Follicular Stimulating Hormone (FSH) Nijmegen breakage Syndrome and Follicular Stimulating Hormone (FSH) Hepatitis B Virus (HBV) serology Nijmegen breakage Syndrome and Hepatitis B Virus (HBV) serology Immunoglobulin G (IgG) subclasses Nijmegen breakage Syndrome and Immunoglobulin G (IgG) subclasses Leuteinizing hormone (LH) Nijmegen breakage Syndrome and Leuteinizing hormone (LH) Serum IgA Nijmegen breakage Syndrome and Serum IgA serum IgG Nijmegen breakage Syndrome and serum IgG serum estradiol Nijmegen breakage Syndrome and serum estradiol serum immunoglobulins Nijmegen breakage Syndrome and serum immunoglobulins Western blot Nijmegen breakage Syndrome and Western blot CD4 T cells Nijmegen breakage Syndrome and CD4 T cells CD4/CD45RA Nijmegen breakage Syndrome and CD4/CD45RA CD4/CD45RO Nijmegen breakage Syndrome and CD4/CD45RO response to anti-CD3 monoclonal antibody Nijmegen breakage Syndrome and response to anti-CD3 monoclonal antibody response to phytohemagglutinin antigen Nijmegen breakage Syndrome and response to phytohemagglutinin antigen Abdominal MRI MRI of abdominal contents Nijmegen breakage Syndrome and Abdominal MRI Abdominal ultrasonography Ultrasound of abdominal contents Nijmegen breakage Syndrome and Abdominal ultrasonography Anti hepatitis C virus antibody antibody against hepatitis C Nijmegen breakage Syndrome and Anti hepatitis C virus antibody Brain MRI Nijmegen breakage Syndrome and Brain MRI Magnetic Resonance Imaging (MRI) Chest Nijmegen breakage Syndrome and Magnetic Resonance Imaging (MRI) Chest Magnetic Resonance Imaging (MRI) Pelvis Nijmegen breakage Syndrome and Magnetic Resonance Imaging (MRI) Pelvis Pelvic ultrasonography Nijmegen breakage Syndrome and Pelvic ultrasonography IR and RDS sensitivity analysis Nijmegen breakage Syndrome and IR and RDS sensitivity analysis Serum alpha-fetoprotein (AFP) Nijmegen breakage Syndrome and Serum alpha-fetoprotein (AFP) T cell counts Nijmegen breakage Syndrome and T cell counts B cell count Nijmegen breakage Syndrome and B cell count B cell function Nijmegen breakage Syndrome and B cell function antibody response to diphtheria or tetanus vaccines Nijmegen breakage Syndrome and antibody response to diphtheria or tetanus vaccines CD3 T cells Nijmegen breakage Syndrome and CD3 T cells CD4 /CD8 cell ratio Nijmegen breakage Syndrome and CD4 /CD8 cell ratio CD8 T cells Nijmegen breakage Syndrome and CD8 T cells DNA repair studies Nijmegen breakage Syndrome and DNA repair studies Developmental testing Nijmegen breakage Syndrome and Developmental testing T-cell responses to mitogens Nijmegen breakage Syndrome and T-cell responses to mitogens T-cell subsets CD3, CD4, CD8 Nijmegen breakage Syndrome and T-cell subsets CD3, CD4, CD8 response to pokeweed mitogen Nijmegen breakage Syndrome and response to pokeweed mitogen tetanus antibodies IgG 1 Nijmegen breakage Syndrome and tetanus antibodies IgG 1 tetanus antibodies IgG 1 Nijmegen breakage Syndrome and tetanus antibodies IgG 1 for more please login, login is free (click to login) therapeutic procedures for 'Nijmegen breakage Syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Nijmegen breakage Syndrome: therapeutic procedure search results for 'nijmegen breakage syndrome' 1 - 1 of 1 therapeutic procedures rankings are computer generated. please consult your health care provider. neurosurgery Nijmegen breakage Syndrome and neurosurgery medications search results for 'nijmegen breakage syndrome' 1 - 5 of 11 medications rankings are computer generated. please consult your health care provider.   hormone replacement therapy Nijmegen breakage Syndrome and hormone replacement therapy   Bone marrow transplantation Nijmegen breakage Syndrome and Bone marrow transplantation   Vitamin E supplementation Nijmegen breakage Syndrome and Vitamin E supplementation   intravenous immunoglobulin Nijmegen breakage Syndrome and intravenous immunoglobulin   ciprofloxacin Nijmegen breakage Syndrome and ciprofloxacin   amoxicillin Nijmegen breakage Syndrome and amoxicillin   azithromycin Nijmegen breakage Syndrome and azithromycin   keflex Nijmegen breakage Syndrome and keflex   erythromycin Nijmegen breakage Syndrome and erythromycin   ceftriaxone Nijmegen breakage Syndrome and ceftriaxone   septra Nijmegen breakage Syndrome and septra for more please login, login is free (click to login) web search results for nijmegen breakage syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Nijmegen breakage Syndrome Nijmegen breakage syndrome - Wikipedia, the free encyclopedia The Nijmegen breakage syndrome gene and its role in genome stability" ... Nijmegen Breakage Syndrome at NIH's Office of Rare Diseases ... http://en.wikipedia.org/wiki/Nijmegen_breakage_syndrome   en.wikipedia.org - summary Nijmegen breakage syndrome 1 (LOC403373) African clawed frog protein-coding gene LOC403373. Represented by ... Xenopus laevis Nijmegen breakage syndrome 1, mRNA (cDNA clone IMAGE:6865382), partial cds ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Xl&CID=9528   www.ncbi.nlm.nih.gov - summary Nijmegen Breakage Syndrome -- GeneReviews -- NCBI Bookshelf NBS1 is the only gene known to be associated with Nijmegen breakage syndrome. ... and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=nijmegen   www.ncbi.nlm.nih.gov - summary Nijmegen breakage syndrome. The International Nijmegen ... Nijmegen breakage syndrome. The International Nijmegen Breakage ... BACKGROUND: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. ... http://www.ncbi.nlm.nih.gov/pubmed/10799436   www.ncbi.nlm.nih.gov - summary Nijmegen breakage syndrome in 13% of age-matched Czech ... The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal ... Most Nijmegen breakage syndrome patients are of Slavonic origin, and all of them ... http://www.ncbi.nlm.nih.gov/pubmed/15033202   www.ncbi.nlm.nih.gov - summary Nijmegen Breakage Syndrome mutations and risk of breast cancer. ... Breakage Syndrome (NBS), but their clinical impact on breast cancer ... Nijmegen Breakage Syndrome/epidemiology. Nijmegen Breakage Syndrome/genetics ... http://www.ncbi.nlm.nih.gov/pubmed/17957789?ordinalpos=3&ito...   www.ncbi.nlm.nih.gov - summary Nijmegen breakage syndrome: clinical manifestation of ... Nijmegen breakage syndrome: clinical manifestation of defective response to DNA ... Nijmegen breakage syndrome is a rare autosomal recessive genetic disease ... http://www.ncbi.nlm.nih.gov/pubmed/15279809   www.ncbi.nlm.nih.gov - summary Nijmegen breakage syndrome diagnosed as Fanconi anaemia. ... Fanconi anaemia (FA) and Nijmegen breakage syndrome (NBS) are rare chromosomal ... Syndrome. Substances: Cell Cycle Proteins. NBN protein, human. Nuclear Proteins ... http://www.ncbi.nlm.nih.gov/pubmed/15593232   www.ncbi.nlm.nih.gov - summary Mutational inactivation of the nijmegen breakage syndrome ... Nijmegen breakage syndrome caused by NBS1 germline mutations is a rare autosomal ... reported as a germline mutation in Nijmegen breakage syndrome patients. ... http://www.ncbi.nlm.nih.gov/pubmed/19151620?&report=abstract   www.ncbi.nlm.nih.gov - summary Human RAD50 deficiency in a Nijmegen breakage syndrome-like ... Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. ... diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like ... http://www.ncbi.nlm.nih.gov/pubmed/19409520?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Successful SCT for Nijmegen breakage syndrome. Albert MH, Gennery AR, Greil J, Cale CM, Kalwak K, Kondratenko I, Mlynarski W, ... Nijmegen breakage syndrome (NBS) is characterized by chromosomal instability, ... http://www.ncbi.nlm.nih.gov/pubmed/19684627?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary ATM phosphorylation of Nijmegen breakage syndrome protein is ... ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage ... Nijmegen breakage syndrome (NBS) is characterized by extreme radiation ... http://www.ncbi.nlm.nih.gov/pubmed/10839545   www.ncbi.nlm.nih.gov - summary NBN - nibrin - Genetics Home Reference Nijmegen breakage syndrome is characterized by slow growth and short stature, an ... Nijmegen breakage syndrome 1. p95 protein of the MRE11/RAD50 complex ... http://ghr.nlm.nih.gov/gene=nbn   ghr.nlm.nih.gov - summary Distinct functions of Nijmegen breakage syndrome in ataxia ... Distinct functions of Nijmegen breakage syndrome in ataxia telangiectasia ... the gene mutated in Nijmegen breakage syndrome (NBS), by ataxia telangiectasia ... http://www.ncbi.nlm.nih.gov/pubmed/12861053?dopt=Abstract   www.ncbi.nlm.nih.gov - summary Nijmegen breakage syndrome and DNA double strand break repair ... ... Biophys. 2004;38:65-80. Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. ... Syndrome. Substances: Cell Cycle Proteins. NBN ... http://www.ncbi.nlm.nih.gov/pubmed/15493328   www.ncbi.nlm.nih.gov - summary Role of the Nijmegen breakage syndrome 1 gene in familial and ... Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic ... The Nijmegen breakage syndrome 1 (NBS1) gene, which participates in DNA double ... http://www.ncbi.nlm.nih.gov/pubmed/16702373   www.ncbi.nlm.nih.gov - summary The Nijmegen breakage syndrome gene and its role in genome ... The Nijmegen breakage syndrome gene and its role in genome stability. ... NBS1 is the key regulator of the RAD50/MRE11/NBS1 (R/M/N) protein complex, a ... http://www.ncbi.nlm.nih.gov/pubmed/15258809   www.ncbi.nlm.nih.gov - summary Chromosome instability syndrome - Wikipedia, the free ... ... from Chromosomal breakage syndrome) Jump to: navigation, ... Bloom syndrome. Fanconi anaemia. Nijmegen breakage syndrome [edit] References. Taylor AM (2001) ... http://en.wikipedia.org/wiki/Chromosomal_breakage_syndrome   en.wikipedia.org - summary NBN - OMIM - Genetic disorder catalog - Genetics Home Reference OMIM: Nijmegen Breakage Syndrome. Reviewed: August 2007. Published: September 14, 2009. Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/gene=nbn/show/OMIM   ghr.nlm.nih.gov - summary T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage ... 2004 Aug;89(8):ECR27. T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome. ... Nijmegen breakage syndrome (NBS) is a rare autosomal-recessive disorder ... http://www.ncbi.nlm.nih.gov/pubmed/15339696   www.ncbi.nlm.nih.gov - summary Werner syndrome - Wikipedia, the free encyclopedia ... syndrome · Cockayne syndrome · Fanconi anemia · Li-Fraumeni syndrome · Nijmegen breakage syndrome · Rothmund-Thomson syndrome · Severe combined immunodeficiency ... http://en.wikipedia.org/wiki/Werner's_syndrome   en.wikipedia.org - summary The clinical and biological overlap between Nijmegen Breakage ... ... and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. ... Nijmegen Breakage Syndrome (NBS) is a related disorder that shares overlapping ... http://www.ncbi.nlm.nih.gov/pubmed/15451479   www.ncbi.nlm.nih.gov - summary Orphanet: Nijmegen breakage syndrome The portal for rare diseases and orphan drugs ... Welcome to the Orphanet User Satisfaction Survey 2009. Your opinion is essential in improving the services ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=647   www.orpha.net - summary An inducible null mutant murine model of Nijmegen breakage ... ... disorder, Nijmegen breakage syndrome, is characterized ... Nijmegen breakage syndrome 1 protein, mouse. Nuclear Proteins. Viral Proteins. Cre recombinase ... http://www.ncbi.nlm.nih.gov/pubmed/15333589?ordinalpos=4&ito...   www.ncbi.nlm.nih.gov - summary A new chromosomal instability disorder: the Nijmegen breakage ... A new chromosomal instability disorder: the Nijmegen breakage syndrome. ... Pedigree. Syndrome. Translocation, Genetic. PMID: 7315300 [PubMed - indexed for MEDLINE] ... http://www.ncbi.nlm.nih.gov/pubmed/7315300   www.ncbi.nlm.nih.gov - summary The hMre11/hRad50 protein complex and Nijmegen breakage ... ... hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand ... Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder ... http://www.ncbi.nlm.nih.gov/pubmed/9590181   www.ncbi.nlm.nih.gov - summary KJ Wu - NextBio NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal ... Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, ... http://www.nextbio.com/b/literature/literature.nb?author=KJ+Wu   www.nextbio.com - summary Genomic instability - Glossary Entry - Genetics Home Reference A biological process consisting of chromosomal rearrangements and duplications. ... Nijmegen breakage syndrome is also a disease characterized by chromosomal and ... http://ghr.nlm.nih.gov/glossary=genomicinstability   ghr.nlm.nih.gov - summary Chromosomal breakage syndromes and the BRCA1 genome ... ... BLM, WRN, and FANCD2 are responsible for ataxia telangiectasia (AT), Nijmegen breakage syndrome, AT-like disorder, Bloom and Werner syndrome, and Fanconi ... http://www.ncbi.nlm.nih.gov/pubmed/11733219   www.ncbi.nlm.nih.gov - summary SIRT1 regulates the function of the Nijmegen breakage ... SIRT1 regulates the function of the Nijmegen breakage syndrome protein. ... the human genetic disease Nijmegen breakage syndrome, serves as the regulatory ... http://www.ncbi.nlm.nih.gov/pubmed/portal/query.fcgi?p$site=...   www.ncbi.nlm.nih.gov - summary Functional link between ataxia-telangiectasia and Nijmegen ... Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. ... in patients with Nijmegen breakage syndrome and forms a complex ... http://www.ncbi.nlm.nih.gov/pubmed/10839544   www.ncbi.nlm.nih.gov - summary Extreme variation in apoptosis capacity amongst lymphoid ... ... human genetic disorder, Nijmegen breakage syndrome (NBS), is characterised by ... Nijmegen Breakage Syndrome/physiopathology* Nuclear Proteins/metabolism ... http://www.ncbi.nlm.nih.gov/pubmed/17977616?ordinalpos=3&ito...   www.ncbi.nlm.nih.gov - summary Cutaneous noncaseating granulomas associated with Nijmegen ... Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome. ... Nijmegen Breakage Syndrome/pathology. Skin Neoplasms/diagnosis* Skin Neoplasms ... http://www.ncbi.nlm.nih.gov/pubmed/18347309   www.ncbi.nlm.nih.gov - summary Unique morphological spectrum of lymphomas in Nijmegen ... ... spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high ... Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder ... http://www.ncbi.nlm.nih.gov/pubmed/18788073?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Medulloblastoma with adverse reaction to radiation therapy in ... Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome. ... prompted a diagnostic workup for Nijmegen breakage syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/12621246   www.ncbi.nlm.nih.gov - summary Multiplex single-tube screening for mutations in the Nijmegen ... ... for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and ... Patients with Nijmegen Breakage Syndrome (NBS) have a high risk to develop ... http://www.ncbi.nlm.nih.gov/pubmed/12734548   www.ncbi.nlm.nih.gov - summary Importin KPNA2 is required for proper nuclear localization ... Nijmegen breakage syndrome (NBS) is a chromosomal ... Nijmegen Breakage Syndrome/metabolism. Nuclear Localization Signals. Nuclear Proteins/chemistry ... http://www.ncbi.nlm.nih.gov/pubmed/16188882   www.ncbi.nlm.nih.gov - summary DNA double-strand break and chromosomal rejoining defects ... ... rejoining defects with misrejoining in Nijmegen breakage syndrome cells. ... Nijmegen Breakage Syndrome/genetics* Nijmegen Breakage Syndrome/pathology ... http://www.ncbi.nlm.nih.gov/pubmed/17919995?ordinalpos=2&ito...   www.ncbi.nlm.nih.gov - summary The clinical manifestation of a defective response to DNA ... ... to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome. ... recessive genetic disorder Nijmegen breakage syndrome (NBS) was first described ... http://www.ncbi.nlm.nih.gov/pubmed/18066092?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Nibrin, a novel DNA double-strand break repair protein, is ... ... DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. ... Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal ... http://www.ncbi.nlm.nih.gov/pubmed/9590180   www.ncbi.nlm.nih.gov - summary NBN - References - Genetics Home Reference Buslov KG, Iyevleva AG, Chekmariova EV, Suspitsin EN, Togo AV, ... NBS1 657del5 mutation may contribute only to a limited fraction ... Nijmegen Breakage ... http://ghr.nlm.nih.gov/gene=nbn/show/References   ghr.nlm.nih.gov - summary Normal V(D)J recombination in cells from patients with ... Normal V(D)J recombination in cells from patients with Nijmegen breakage syndrome. ... from patients with Nijmegen breakage syndrome, carrying a mutation in ... http://www.ncbi.nlm.nih.gov/pubmed/11282395   www.ncbi.nlm.nih.gov - summary MRI evidence of white matter damage in a mouse model of ... MRI evidence of white matter damage in a mouse model of Nijmegen breakage syndrome. ... Nijmegen breakage syndrome (NBS) is a genomic instability disease caused by ... http://www.ncbi.nlm.nih.gov/pubmed/17976584?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary The R215W mutation in NBS1 impairs gamma-H2AX binding and ... Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by ... Nijmegen Breakage Syndrome/metabolism. Nuclear Proteins/chemistry. Nuclear Proteins ... http://www.ncbi.nlm.nih.gov/pubmed/18328813?ordinalpos=&itoo...   www.ncbi.nlm.nih.gov - summary Telomere length in lymphoblast cell lines derived from ... ... telangiectasia (A-T) and Nijmegen breakage syndrome(NBS), have shortened telomeres. ... Nijmegen Breakage Syndrome/genetics* Nijmegen Breakage Syndrome ... http://www.ncbi.nlm.nih.gov/pubmed/18364569   www.ncbi.nlm.nih.gov - summary 251260 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251260   www.ncbi.nlm.nih.gov - summary 602667 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602667   www.ncbi.nlm.nih.gov - summary GEO Accession viewer Nijmegen Breakage Syndrome carrier lymphoblastoid cell line ... Heterozygous carriers of Nijmegen Breakage Syndrome Have a Distinct Gene Expression Phenotype. ... http://www.ncbi.nlm.nih.gov/projects/geo/query/acc.cgi?acc=GSM89126   www.ncbi.nlm.nih.gov - summary An alternative mode of translation permits production of a ... ... of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. ... Nijmegen breakage syndrome (NBS) is a rare chromosomal-instability syndrome ... http://www.ncbi.nlm.nih.gov/pubmed/11279524   www.ncbi.nlm.nih.gov - summary Chromosome instability syndromes. More recently Nijmegen breakage syndrome (NBS) and ataxia telangiectasia-like ... The very rare Bloom syndrome is caused by mutation in a single gene, BLM. ... http://www.ncbi.nlm.nih.gov/pubmed/11640873   www.ncbi.nlm.nih.gov - summary show more 1  2