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144 results

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Quoted phrase not found in phrase index: "Microcephaly, normal intelligence and immunodeficiency"
Page 1
Radiogenomics.
Story MD, Durante M. Story MD, et al. Med Phys. 2018 Nov;45(11):e1111-e1122. doi: 10.1002/mp.13064. Med Phys. 2018. PMID: 30421807 Review.
PURPOSE: Radiogenomics is the study of genomic changes that underlie the radioresponse of normal and tumor tissues. And while this is generally regarded as a whole genome approach, one must keep in mind the impact of single gene biology on radioresponse, (ataxia telangiect …
PURPOSE: Radiogenomics is the study of genomic changes that underlie the radioresponse of normal and tumor tissues. And while this is …
Chromosomal breakage syndromes.
Carney JP. Carney JP. Curr Opin Immunol. 1999 Aug;11(4):443-7. doi: 10.1016/S0952-7915(99)80074-0. Curr Opin Immunol. 1999. PMID: 10448147 Review.
Immune deficiency and chromosome fragility are hallmarks of two human diseases, ataxia telangiectasia and Nijmegen breakage syndrome. The genes mutated in these diseases, ATM and NBS1, have been cloned and there has been considerable recent progress on deciph …
Immune deficiency and chromosome fragility are hallmarks of two human diseases, ataxia telangiectasia and Nijmegen breakage …
Clinical characterisation of patients in the post-acute stage of anti-NMDA receptor encephalitis: a prospective cohort study and comparison with patients with schizophrenia spectrum disorders.
Guasp M, Rosa-Justicia M, Muñoz-Lopetegi A, Martínez-Hernández E, Armangué T, Sugranyes G, Stein H, Borràs R, Prades L, Ariño H, Planagumà J, De-La-Serna E, Escudero D, Llufriu S, Sánchez-Valle R, Santamaria J, Compte A, Castro-Fornieles J, Dalmau J; Spanish anti-NMDAR Encephalitis Study Group. Guasp M, et al. Lancet Neurol. 2022 Oct;21(10):899-910. doi: 10.1016/S1474-4422(22)00299-X. Lancet Neurol. 2022. PMID: 36115362
Although, by V1 (median 4 months [IQR 3-7] from disease onset), many acute-stage symptoms in participants with anti-NMDAR encephalitis had resolved (acute stage median modified Rankin Scale [mRS] score 5 [IQR 4-5] vs V1 mRS score 2 [1-2]; p<0.0001), 25 (89%) part …
Although, by V1 (median 4 months [IQR 3-7] from disease onset), many acute-stage symptoms in participants with anti-NMDAR encephalitis had r …
Preexisting conditions in pediatric ALL patients: Spectrum, frequency and clinical impact.
Schütte P, Möricke A, Zimmermann M, Bleckmann K, Reismüller B, Attarbaschi A, Mann G, Bodmer N, Niggli F, Schrappe M, Stanulla M, Kratz CP. Schütte P, et al. Eur J Med Genet. 2016 Mar;59(3):143-51. doi: 10.1016/j.ejmg.2015.12.008. Epub 2015 Dec 28. Eur J Med Genet. 2016. PMID: 26732628 Review.
Especially those syndromes with a known cancer predisposition (NF type I, Ataxia telangiectasia, Nijmegen Breakage syndrome etc.) were associated with certain general and ALL-related characteristics, high therapy-related toxicity and reduced survival. ...A ta …
Especially those syndromes with a known cancer predisposition (NF type I, Ataxia telangiectasia, Nijmegen Breakage syndrome …
An electrocardiographic score to predict pulmonary hypertension in children with atrial septal defect.
Murni IK, Kato T, Wirawan MT, Arafuri N, Hermawan K, Hartopo AB, Anggrahini DW, Nugroho S, Noormanto N, Emoto N, Dinarti LK. Murni IK, et al. BMC Pediatr. 2023 Jun 10;23(1):288. doi: 10.1186/s12887-023-04102-1. BMC Pediatr. 2023. PMID: 37301836 Free PMC article.
Echocardiography and cardiac catheterization are not widely available in such settings. No scoring system has been proposed to predict PH among children with ASD. ...Spiegelhalter Knill-Jones approach was used to develop PH prediction score. Acc …
Echocardiography and cardiac catheterization are not widely available in such settings. No scoring system has been proposed to …
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. ...Progn …
Nijmegen Breakage Syndrome (NBS) is a rare autosomalrecessive DNA repair disorder characterized by genomic instability …
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.
Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Białecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michałkiewicz J, Stachowski J, Gregorek H, Lysón-Wojciechowska G, et al. Chrzanowska KH, et al. Am J Med Genet. 1995 Jul 3;57(3):462-71. doi: 10.1002/ajmg.1320570321. Am J Med Genet. 1995. PMID: 7545870 Review.
We found structural aberrations with multiple rearrangements, preferentially involving chromosomes 7 and 14 in a proportion of metaphases in all individuals. Profound humoral and cellular immune defects were observed. Serum AFP levels were within normal range. Radio …
We found structural aberrations with multiple rearrangements, preferentially involving chromosomes 7 and 14 in a proportion of metaphases in …
ATMINistrating ATM signalling: regulation of ATM by ATMIN.
Kanu N, Behrens A. Kanu N, et al. Cell Cycle. 2008 Nov 15;7(22):3483-6. doi: 10.4161/cc.7.22.7044. Epub 2008 Nov 18. Cell Cycle. 2008. PMID: 19001856 Review.
We have recently identified an essential cofactor for ATM, ATMIN (for ATM INteractor). Several observations suggested that ATMIN plays a key role in ATM signalling. ...ATMIN bound ATM using a short carboxy-terminal motif, in a manner analogous to how another ATM cofactor, …
We have recently identified an essential cofactor for ATM, ATMIN (for ATM INteractor). Several observations suggested that ATMIN play …
Role of IFI16 in DNA damage and checkpoint.
Ouchi M, Ouchi T. Ouchi M, et al. Front Biosci. 2008 Jan 1;13:236-9. doi: 10.2741/2673. Front Biosci. 2008. PMID: 17981541 Review.
A novel insight of the function of IFI16 stemmed from the observation that IFI16 constitutively binds to BRCA1 breast cancer tumor suppressor. ...Finally, siRNA-mediated depletion of IFI16 induces levels of NBS1, nijmegen breakage syndrome protein 1, l …
A novel insight of the function of IFI16 stemmed from the observation that IFI16 constitutively binds to BRCA1 breast cancer tumor su …
Maternal Predictors of Breast Milk Plasmalogens and Associations with Infant Body Composition and Neurodevelopment.
Ramadurai S, Andrews C, Cheema S, Thomas R, Wagner CL, Sen S. Ramadurai S, et al. Clin Ther. 2022 Jul;44(7):998-1009. doi: 10.1016/j.clinthera.2022.06.003. Epub 2022 Jul 29. Clin Ther. 2022. PMID: 35909001 Clinical Trial.
The study objectives were to: (1) describe the composition of BM pPEs and the variation in monomers at both the sn-1 and sn-2 positions; and (2) quantify the associations between BM pPEs and maternal predictors (body mass index, race, dietary fatty acid intake, gestational …
The study objectives were to: (1) describe the composition of BM pPEs and the variation in monomers at both the sn-1 and sn-2 positions; and …
144 results