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Select record 41
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Towards In Silico Identification of Genes Contributing to Similarity of Patients’ Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia
Author / Creator:Batten, Declan J. ; Crofts, Jonathan J. ; Chuzhanova, Nadia
Publisher:Basel: MDPI AG
Journal title:Genes, 2023-09, Vol.14 (9), p.1795
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Predicting novel genomic regions linked to genetic disorders using GWAS and chromosome conformation data – a case study of schizophrenia
Author / Creator:Buxton, Daniel S. ; Batten, Declan J. ; Crofts, Jonathan J. ; Chuzhanova, Nadia
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-11, Vol.9 (1), p.17940-14, Article 17940
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THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER
Author / Creator:Chuzhanova, Nadia A ; Krawczak, Michael ; Thomas, Nick ; Nemytikova, Lubov A ; Gusev, Vladimir D ; Cooper, David N
Publisher:United States: Society for the Study of Evolution
Journal title:Evolution, 2002-02, Vol.56 (2), p.224-232
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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas
Author / Creator:Upadhyaya, Meena ; Spurlock, Gill ; Kluwe, Lan ; Chuzhanova, Nadia ; Bennett, Emma ; Thomas, Nick ; Guha, Abhijit ; Mautner, Victor
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2009-07, Vol.10 (3), p.251-263
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Select record 45
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Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden
Author / Creator:Thomas, Laura ; Kluwe, Lan ; Chuzhanova, Nadia ; Mautner, Victor ; Upadhyaya, Meena
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2010-10, Vol.11 (4), p.391-400
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Select record 46
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Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A
Author / Creator:Mühle, Christiane ; Zenker, Martin ; Chuzhanova, Nadia ; Schneider, Holm
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-10, Vol.28 (10), p.1045-1045
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Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends
Author / Creator:Chuzhanova, Nadia ; Abeysinghe, Shaun S. ; Krawczak, Michael ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-09, Vol.22 (3), p.245-251
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Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
Author / Creator:Thomas, Laura ; Spurlock, Gill ; Eudall, Claire ; Thomas, Nick S ; Mort, Matthew ; Hamby, Stephen E ; Chuzhanova, Nadia ; Brems, Hilde ; Legius, Eric ; Cooper, David N ; Upadhyaya, Meena
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.411-419
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Complex gene rearrangements caused by serial replication slippage
Author / Creator:Chen, Jian‐Min ; Chuzhanova, Nadia ; Stenson, Peter D. ; Férec, Claude ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-08, Vol.26 (2), p.125-134
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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
Author / Creator:Audrézet, Marie-Pierre ; Chen, Jian-Min ; Raguénès, Odile ; Chuzhanova, Nadia ; Giteau, Karine ; Maréchal, Cédric Le ; Quéré, Isabelle ; Cooper, David N. ; Férec, Claude
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-04, Vol.23 (4), p.343-357
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Screening in silico predicted remotely acting NF1gene regulatory elements for mutations in patients with neurofibromatosis type 1
Author / Creator:Hamby, Stephen E ; Reviriego, Pablo ; Cooper, David N ; Upadhyaya, Meena ; Chuzhanova, Nadia
Publisher:London: BioMed Central
Journal title:Human genomics, 2013-08, Vol.7 (1), Article 18
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Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1
Author / Creator:Hamby, Stephen E ; Reviriego, Pablo ; Cooper, David N ; Upadhyaya, Meena ; Chuzhanova, Nadia
Publisher:England: BioMed Central
Journal title:Human genomics, 2013-08, Vol.7 (1), p.18-18
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Select record 53
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Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions
Author / Creator:Chen, Jian-Min ; Chuzhanova, Nadia ; Stenson, Peter D. ; Férec, Claude ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-10, Vol.26 (4), p.362-373
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Select record 54
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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?
Author / Creator:Alkindy, Adila ; Chuzhanova, Nadia ; Kini, Usha ; Cooper, David N ; Upadhyaya, Meena
Publisher:London: BioMed Central
Journal title:Human genomics, 2012-08, Vol.6 (1), Article 12
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Select record 55
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Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD
Author / Creator:Mayes, Mary B. ; Morgan, Taniesha ; Winston, Jincy ; Buxton, Daniel S. ; Kamat, Mihir Anant ; Smith, Debbie ; Williams, Maggie ; Martin, Rebecca L. ; Kleinjan, Dirk A. ; Cooper, David N. ; Upadhyaya, Meena ; Chuzhanova, Nadia
Publisher:England: BioMed Central
Journal title:Human genomics, 2015-10, Vol.9 (1), p.25-25, Article 25
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Select record 56
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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype
Author / Creator:Spurlock, Gill ; Bennett, Emma ; Chuzhanova, Nadia ; Thomas, Nick ; Jim, Hoi ; Side, Lucy ; Davies, Sally ; Haan, Eric ; Kerr, Bronwyn ; Huson, Susan M ; Upadhyaya, Meena
Publisher:BMJ Publishing Group
Journal title:Journal of medical genetics, 2009-07, Vol.46 (7)
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Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)
Author / Creator:Kehrer-Sawatzki, Hildegard ; Sandig, Catharina ; Chuzhanova, Nadia ; Goidts, Violaine ; Szamalek, Justyna M. ; Tänzer, Simone ; Müller, Stefan ; Platzer, Matthias ; Cooper, David N. ; Hameister, Horst
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-01, Vol.25 (1), p.45-55
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Select record 58
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Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome
Author / Creator:Szamalek, Justyna M. ; Goidts, Violaine ; Chuzhanova, Nadia ; Hameister, Horst ; Cooper, David N. ; Kehrer-Sawatzki, Hildegard
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2005-07, Vol.117 (2-3), p.168-176
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Select record 59
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THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER
Author / Creator:Chuzhanova, Nadia A. ; Krawczak, Michael ; Thomas, Nick ; Nemytikova, Lubov A. ; Gusev, Vladimir D. ; Cooper, David N.
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Evolution, 2002-02, Vol.56 (2), p.224-232
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Select record 60
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Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants
Author / Creator:Chuzhanova, Nadia ; Cooper, David N ; Férec, Claude ; Chen, Jian-min
Publisher:Dordrecht: Springer Nature B.V
Journal title:The HUGO journal, 2007, Vol.1 (1-2), p.29
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Showing 41 to 60 of 48 results

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Towards In Silico Identification of Genes Contributing to Similarity of Patients’ Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia

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Predicting novel genomic regions linked to genetic disorders using GWAS and chromosome conformation data – a case study of schizophrenia

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THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER

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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas

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Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden

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Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A

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Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends

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Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

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Complex gene rearrangements caused by serial replication slippage

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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms

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Screening in silico predicted remotely acting NF1gene regulatory elements for mutations in patients with neurofibromatosis type 1

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Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1

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Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions

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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

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Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype

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Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)

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Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

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THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER

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Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants

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