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Page 1
Nijmegen Breakage Syndrome.
Varon R, Demuth I, Chrzanowska KH. Varon R, et al. 1999 May 17 [updated 2023 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1999 May 17 [updated 2023 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301355 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ova …
CLINICAL CHARACTERISTICS: Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth d …
Nijmegen breakage syndrome.
Kondratenko I, Paschenko O, Polyakov A, Bologov A. Kondratenko I, et al. Adv Exp Med Biol. 2007;601:61-7. doi: 10.1007/978-0-387-72005-0_6. Adv Exp Med Biol. 2007. PMID: 17712992 Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsibl …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardati …
Nijmegen breakage syndrome.
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C. van der Burgt I, et al. J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. J Med Genet. 1996. PMID: 8929954 Free PMC article. Review.
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the c …
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variant …
Nijmegen breakage syndrome: case report and review of literature.
Hasbaoui BE, Elyajouri A, Abilkassem R, Agadr A. Hasbaoui BE, et al. Pan Afr Med J. 2020 Mar 20;35:85. doi: 10.11604/pamj.2020.35.85.14746. eCollection 2020. Pan Afr Med J. 2020. PMID: 32537088 Free PMC article. Review.
Nijmegen Breakage Syndrome (NBS) is a rare autosomalrecessive DNA repair disorder characterized by genomic instability andincreased risk of haematopoietic malignancies observed in morethan 40% of the patients by the time they are 20 years old. ...Prognosis is …
Nijmegen Breakage Syndrome (NBS) is a rare autosomalrecessive DNA repair disorder characterized by genomic instability …
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. ...Microcephaly and immunodeficiency are com …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly charac …
[Nijmegen Breakage syndrome].
Erdos M, Tóth B, Juhász P, Mahdi M, Maródi L. Erdos M, et al. Orv Hetil. 2010 Apr 18;151(16):665-73. doi: 10.1556/OH.2010.28851. Orv Hetil. 2010. PMID: 20353920 Review. Hungarian.
Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance …
Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, …
Nijmegen breakage syndrome and functions of the responsible protein, NBS1.
Antoccia A, Kobayashi J, Tauchi H, Matsuura S, Komatsu K. Antoccia A, et al. Genome Dyn. 2006;1:191-205. doi: 10.1159/000092508. Genome Dyn. 2006. PMID: 18724061 Review.
Nijmegen breakage syndrome (NBS) is a rare recessive genetic disorder, characterized by bird-like facial appearance, early growth retardation, congenital microcephaly, immunodeficiency and high frequency of malignancies. ...
Nijmegen breakage syndrome (NBS) is a rare recessive genetic disorder, characterized by bird-like facial appearance, ea …
Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.
Boyarchuk O, Kostyuchenko L, Akopyan H, Bondarenko A, Volokha A, Hilfanova A, Savchak I, Nazarenko L, Yarema N, Urbas O, Hrabovska I, Lysytsia O, Budzyn A, Tykholaz O, Ivanchuk M, Bastanohova O, Patskun E, Vasylenko N, Stepanovskyy Y, Chernyshova L, Makukh H. Boyarchuk O, et al. Front Immunol. 2024 Jun 28;15:1428724. doi: 10.3389/fimmu.2024.1428724. eCollection 2024. Front Immunol. 2024. PMID: 39007137 Free PMC article.
INTRODUCTION: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immunodeficiency, and impaired DNA repair. ...
INTRODUCTION: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immun …
Nijmegen breakage syndrome: consequences of defective DNA double strand break repair.
Digweed M, Reis A, Sperling K. Digweed M, et al. Bioessays. 1999 Aug;21(8):649-56. doi: 10.1002/(SICI)1521-1878(199908)21:8<649::AID-BIES4>3.0.CO;2-O. Bioessays. 1999. PMID: 10440861 Review.
The autosomal recessive genetic disorder, Nijmegen Breakage Syndrome, is characterised by an excessively high risk for the development of lymphatic tumours and an extreme sensitivity towards ionising radiation. The most likely explanation for these characteri …
The autosomal recessive genetic disorder, Nijmegen Breakage Syndrome, is characterised by an excessively high risk for …
724 results