*  Nijmegen Breakage Syndrome | SpringerLink
Berlin breakage syndrome; Semanová II syndrome Nijmegen breakage syndrome is a genetic disease characterized by an extreme ... Digweed M. (2015) Nijmegen Breakage Syndrome. In: Schwab M. (eds) Encyclopedia of Cancer. Springer, Berlin, Heidelberg. * .RIS ... Nijmegen breakage syndrome is a genetic disease characterized by an extreme sensitivity toward ionizing radiation and a high ... Nijmegen breakage syndrome (NBS) is a rare genetic disease; inheritance follows an autosomal recessive modus with complete ...
  https://link.springer.com/referenceworkentry/10.1007/978-3-642-27841-9_4086-2
*  Nijmegen breakage syndrome Disease Ontology Browser - DOID:7400
Synonyms: Berlin breakage syndrome; Microcephaly, normal intelligence and immunodeficiency; Seemanova syndrome ... Nijmegen breakage syndrome (DOID:7400) Alliance: disease page Synonyms: Berlin breakage syndrome; Microcephaly, normal ... Human Disease Modeled: Nijmegen breakage syndrome. Associated Mouse Gene: Nbn Allelic Composition. Genetic Background. ... intelligence and immunodeficiency; Seemanova syndrome Alt IDs: OMIM:251260, MESH:D049932, NCI:C4692, UMLS_CUI:C0398791 ...
  http://www.informatics.jax.org/disease/DOID:7400
*  Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas | Clinical Cancer Research
... and Turcot syndrome type 2 caused by germ-line APC mutations (5). Nijmegen breakage syndrome (NBS) is a rare autosomal ... Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas. Jian Huang, Michael A. Grotzer, Takuya Watanabe, Ekkehard ... Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas. Jian Huang, Michael A. Grotzer, Takuya Watanabe, Ekkehard ... Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas. Jian Huang, Michael A. Grotzer, Takuya Watanabe, Ekkehard ...
  http://clincancerres.aacrjournals.org/content/14/13/4053
*  Nijmegen breakage syndrome - Wikipedia
"Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group". Arch Dis Child. 82 (5): 400-6. 2000. doi ... Group, The International Nijmegen Breakage Syndrome Study (2000-05-01). "Nijmegen breakage syndrome". Archives of Disease in ... Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant 1 (AT-V1) and Seemanova ... Full text Iijima K, Komatsu K, Matsuura S, Tauchi H (2004). "The Nijmegen breakage syndrome gene and its role in genome ...
  https://en.wikipedia.org/wiki/Nijmegen_breakage_syndrome
*  Juvenile idiopathic arthritis in a child with nijmegen breakage syndrome | Springer for Research & Development
Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder, caused by mutation in the NBS1 gene on ... Juvenile Idiopathic Arthritis Microcephaly Tendinitis Premature Ovarian Failure Nijmegen Breakage Syndrome Download article PDF ... Impaired cellular and humoral immunity is essential feature of syndrome. Patients with NBS have an extremely high risk for ... The child was delivered in time, by cesarean section due to IUGR, with congenital defects syndrome (microcephaly, dysmorfic ...
  https://rd.springer.com/article/10.1186/1546-0096-12-S1-P204
*  The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA...
Nijmegen breakage syndrome - Genetic Alliance. Molecular Biology Databases. *Gene Ontology annotations from this paper - Gene ... Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by increased cancer incidence, cell cycle ... The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA ...
  https://www.ncbi.nlm.nih.gov/pubmed/9590181
*  Nijmegen Breakage Syndrome Publications and Abstracts | PubFacts.com
After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel ... Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are ... Nijmegen breakage syndrome 1 (NBS1) is a component of the MRE11 complex, which is a sensor of DNA double-strand breaks and ... Purpose: Nijmegen breakage syndrome 1 (NBS1) has a vital role in DNA double-strand break (DSB) repair, functioning as a sensor ...
  https://www.pubfacts.com/search/Nijmegen+Breakage+Syndrome
*  RePub, Erasmus University Repository: The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained...
B lymphocytes, Flow cytometry, Nijmegen breakage syndrome, Peripheral blood Persistent URL. dx.doi.org/10.1002/cyto.a.22108, ... Patients with an immunodeficiency in the course of Nijmegen breakage syndrome (NBS) that is caused by mutations in the NBN/NBS1 ... The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte ... The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte ...
  https://repub.eur.nl/pub/37421
*  The clinical and biological overlap between nijmegen breakage syndrome and fanconi anaemia : Sussex Research Online
Nijmegen Breakage Syndrome (NBS) is a related disorder that shares overlapping clinical features, principally, developmental ... The clinical and biological overlap between nijmegen breakage syndrome and fanconi anaemia ... The clinical and biological overlap between nijmegen breakage syndrome and fanconi anaemia. Clinical Immunology, 113. pp. 214- ... Fanconi anemia (FA), an autosomal recessive chromosomal instability syndrome, is characterized clinically by developmental ...
  http://sro.sussex.ac.uk/985/
*  Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome | Molecular Cytogenetics...
Nijmegen breakage syndromeCell lineUnbalanced translocationProliferative advantage. Background. Nijmegen breakage syndrome (NBS ... Nijmegen Breakage Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, LJH B, Mefford HC, et al., editors. GeneReviews(R ... The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA ... Chrzanowska KH, Gregorek H, Dembowska-Baginska B, Kalina MA, Digweed M. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. ...
  https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-018-0364-6
*  Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders | Clinical Cancer Research
Nijmegen Breakage Syndrome. Genetic summary. Nijmegen breakage syndrome (NBS; OMIM #251260) is an AR disorder presenting in ... Nijmegen breakage syndrome, Rothmund-Thomson syndrome, and Xeroderma pigmentosum. Dedicated syndrome registries and a ... Nijmegen breakage syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews [ ... Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998;93:467-76. ...
  http://clincancerres.aacrjournals.org/content/23/11/e23?utm_source=fulltext&utm_medium=landingpage4&utm_campaign=peds
*  How it Works - 23andMe
Nijmegen Breakage Syndrome 1 variant in the NBN gene * Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) 2 variants ... Leigh Syndrome, French Canadian Type 1 variant in the LRPPRC gene; relevant for French Canadian descent ... Usher Syndrome Type 1F 1 variant in the PCDH15 gene; relevant for Ashkenazi Jewish descent ... Usher Syndrome Type 3A 1 variant in the CLRN1 gene; relevant for Ashkenazi Jewish descent ...
  https://www.23andme.com/howitworks/
*  Articles by Sameer Bakhshi, M.D. : Journal of Pediatric Hematology/Oncology
Medulloblastoma With Adverse Reaction to Radiation Therapy in Nijmegen Breakage Syndrome. Bakhshi, Sameer; Cerosaletti, Karen M ... Pediatric Myelodysplastic Syndrome With Cytoplasmic Vacuolation in Myeloid Precursors. Panda, Dipanjan; Gupta, Nidhi; Gupta, ...
  http://journals.lww.com/jpho-online/pages/author.aspx?firstName=Sameer&lastName=Bakhshi
*  Research - 23andMe
Nijmegen Breakage Syndrome and our test Nijmegen breakage syndrome is a rare genetic disorder. It is characterized by ... Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) Pendred Syndrome and DFNB4 Hearing Loss ... Sjögren-Larsson Syndrome Tay-Sachs Disease Tyrosinemia Type I Usher Syndrome Type 1F Usher Syndrome Type 3A Zellweger Syndrome ... Bloom Syndrome and our test Bloom syndrome is a rare genetic disorder characterized by impaired growth and increased risk of ...
  https://www.23andme.com/research/
*  Immune-Mediated Diseases | SpringerLink
Nijmegen Breakage Syndrome Irina Kondratenko, Olga Paschenko, Alexandr Polyakov, Andrey Bologov. Pages 61-67 ...
  https://link.springer.com/book/10.1007/978-0-387-72005-0
*  Families have some answers on genetic disorder
Nijmegen breakage syndrome: Molecular pathways that lead to microcephaly. September 8, 2016 Scientists from Jerusalem and ... Duesseldorf have succeeded in generating induced pluripotent stem cells from a rare disorder called Nijmegen breakage syndrome ... Sotos syndrome is a congenital syndrome that is characterized by varying degrees of mental retardation and a large head ... Finding unravels nature of cognitive inflexibility in fragile X syndrome. January 22, 2018 Mice with the genetic defect that ...
  https://medicalxpress.com/news/2016-12-families-genetic-disorder.html
*  KAKEN - Research Projects | 放射線感受性予測の基礎研究 (KAKENHI-PROJECT-09255102)
Publications] Matsuura,S.et al.: 'Positional cloning of the gene for Nijmegen breakage syndrome.' Nature Genetics. 19. 179-181 ... which contains the Nijmegen breakage syndrome gene, NBS1'Genomics. 55. 242-247 (1999). *. Related Report. 1999 Annual Research ... Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21 ... Expression of full-length NBS1 protein restores normal radiation responses in cells from Nijmegen Breakage Syndrome ...
  https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-09255102/
*  ENSDARG00000038917 - Zebrafish Mutation Project - Wellcome Trust Sanger Institute
Nijmegen breakage syndrome-like disorder. More OMIM information for RAD50. Register. If you would like to be informed when the ...
  http://www.sanger.ac.uk/sanger/Zebrafish_Zmpgene/ENSDARG00000038917
*  Anti-p95 NBS1 antibody (ab23996) | Abcam
Nijmegen breakage syndrome. Breast cancer. Aplastic anemia. Defects in NBN might play a role in the pathogenesis of childhood ... Nijmegen breakage syndrome 1 (nibrin) antibody. *Nijmegen breakage syndrome antibody. *Nijmegen breakage syndrome protein 1 ...
  http://www.abcam.com/p95-NBS1-antibody-ab23996.html
*  Human p95 NBS1 peptide (ab24289) | Abcam
Nijmegen breakage syndrome. Breast cancer. Aplastic anemia. Defects in NBN might play a role in the pathogenesis of childhood ... Nijmegen breakage syndrome. *Nijmegen breakage syndrome 1 (nibrin). *Nijmegen breakage syndrome protein 1 ...
  http://www.abcam.com/human-p95-nbs1-peptide-ab24289.html
*  NBN - Nibrin - Gallus gallus (Chicken) - NBN gene & protein
Nijmegen breakage syndrome protein 1 homolog. ,p>This subsection of the ,a href="http://www.uniprot.org/help/names_and_taxonomy ...
  http://www.uniprot.org/uniprot/Q9DE07
*  Breast Cancer Risk Factors: Genetics
People with Nijmegen breakage syndrome are shorter than average; have a higher risk of several types of cancer, including ... An abnormal NBN gene causes Nijmegen breakage syndrome, a condition that causes slow growth in infancy and early childhood. ... An abnormal STK11 gene causes Peutz Jegher syndrome, a rare disorder in which people tend to develop a type of polyp, called a ... In 2015, an abnormal version of the SEC23B gene also was linked to Cowden syndrome. The SEC23B gene also helps regulate cell ...
  http://www.breastcancer.org/risk/factors/genetics?gclid=CNn8-OmoiasCFR5UgwodFUqg0Q
*  Breast-Ovarian Cancer, Familial 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
nijmegen breakage syndrome 10.0. BRCA1 NBN 4. hereditary site-specific ovarian cancer syndrome 9.8. BRCA1 BRCA2 ... hereditary breast ovarian cancer syndrome 9.2. BRCA1 BRCA2 NBN 36. fanconi anemia, complementation group a 9.2. BRCA1 BRCA2 NBN ... Diseases in the Hereditary Breast Ovarian Cancer Syndrome family:. Breast-Ovarian Cancer, Familial 1 Breast-Ovarian Cancer, ... is related to brca1 hereditary breast and ovarian cancer syndrome and pancreatic cancer 4. An important gene associated with ...
  https://www.malacards.org/card/breast_ovarian_cancer_familial_1_2
*  Difference between revisions of "CH391L/S2013" - OpenWetWare
Nijmegen Breakage Syndrome. * Ataxia - telangiectasia. * Werner & Bloom Syndromes. Week 4 (Feb 6): DNA Replication as a Source ...
  https://openwetware.org/wiki/?title=CH391L/S2013&diff=prev&oldid=668045
*  Ataxia-telangiectasia syndrome
Nijmegen breakage syndrome. Best Tests. Subscription Required. Management Pearls. Subscription Required. Therapy. Subscription ... Ataxia-telangiectasia syndrome. Subscriber Sign In VisualDx Mobile Feedback Select Language Share ... Ataxia-telangiectasia syndrome - External and Internal Eye. Print Images (10) Contributors: Brandon D. Ayres MD, Christopher ... Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is an autosomal recessive, multisystem disorder characterized by ...
  https://www.visualdx.com/visualdx/diagnosis/ataxia-telangiectasia%20syndrome?moduleId=21&diagnosisId=51145