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what is '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.
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
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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'
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therapeutic procedures
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neurosurgery
Nijmegen breakage Syndrome and neurosurgery
medications search results for 'Nijmegen breakage Syndrome'
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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
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web search results for 'Nijmegen breakage Syndrome'?
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- 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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251260
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251260
www.ncbi.nlm.nih.gov
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602667
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602667
www.ncbi.nlm.nih.gov
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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
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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
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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
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