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  1. Article ; Online: Comments on "The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients".

    Kratz, Christian P / Evans, D Gareth

    International journal of cancer

    2023  Volume 152, Issue 9, Page(s) 2011–2012

    MeSH term(s) Child ; Humans ; Protein Serine-Threonine Kinases/genetics ; Neoplasms/genetics ; Germ Cells/metabolism ; Checkpoint Kinase 2/genetics ; Phosphorylation ; Ataxia Telangiectasia Mutated Proteins ; DNA Damage ; Cell Cycle Proteins/metabolism
    Chemical Substances Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Checkpoint Kinase 2 (EC 2.7.1.11) ; Ataxia Telangiectasia Mutated Proteins (EC 2.7.11.1) ; Cell Cycle Proteins
    Language English
    Publishing date 2023-01-24
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 218257-9
    ISSN 1097-0215 ; 0020-7136
    ISSN (online) 1097-0215
    ISSN 0020-7136
    DOI 10.1002/ijc.34432
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 478: Show issues Location:
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    Zs.MO 576: Show issues

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  2. Article ; Online: TP53

    Evans, D Gareth / Harkness, Elaine F / Woodward, Emma R

    Journal of medical genetics

    2023  Volume 60, Issue 11, Page(s) 1057–1060

    Abstract: Germline (likely) ... ...

    Abstract Germline (likely) pathogenic
    Language English
    Publishing date 2023-04-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2022-109133
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    Zs.A 177: Show issues Location:
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  3. Article ; Online: Are neurofibromatosis type 1 (NF1) patients at increased risk of meningioma and in particular malignant meningioma?

    Evans, D Gareth R / Lunt, Lauren

    AME case reports

    2022  Volume 6, Page(s) 31

    Language English
    Publishing date 2022-10-30
    Publishing country China
    Document type Editorial
    ISSN 2523-1995
    ISSN (online) 2523-1995
    DOI 10.21037/acr-22-54
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Book: Neurofibromatoses in clinical practice

    Ferner, Rosalie E. / Huson, Susan M. / Evans, D. Gareth R.

    2011  

    Author's details Rosalie E. ferner ; Susan M. Huson ; D. Gareth R. Evans
    Language English
    Size XVII, 162 S. : Ill., graph. Darst.
    Publisher Springer
    Publishing place London u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT016970963
    ISBN 978-0-85729-628-3 ; 0-85729-628-0
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2011 A 3698 order for loan Magazin

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  5. Article ; Online: RE: Heterozygous BRCA1/BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer.

    Evans, D Gareth / Woodward, Emma R

    Journal of the National Cancer Institute

    2022  Volume 115, Issue 2, Page(s) 224–225

    MeSH term(s) Humans ; Adolescent ; Child ; Female ; DNA Mismatch Repair ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Neoplasms ; Breast Neoplasms ; Genetic Predisposition to Disease ; Ovarian Neoplasms/genetics ; Germ-Line Mutation
    Chemical Substances BRCA1 Protein ; BRCA2 Protein ; BRCA1 protein, human ; BRCA2 protein, human
    Language English
    Publishing date 2022-12-05
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 2992-0
    ISSN 1460-2105 ; 0027-8874 ; 0198-0157
    ISSN (online) 1460-2105
    ISSN 0027-8874 ; 0198-0157
    DOI 10.1093/jnci/djac223
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    Uh III Zs.131: Show issues Location:
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  6. Article: Characterisation of Putative Outer Membrane Proteins from

    Kamaruzaman, Intan Noor Aina / Staton, Gareth James / Ainsworth, Stuart / Carter, Stuart D / Evans, Nicholas James

    Microorganisms

    2024  Volume 12, Issue 2

    Abstract: Leptospirosis is a zoonotic bacterial disease affecting mammalian species worldwide. Cattle are a major susceptible host; infection with ... ...

    Abstract Leptospirosis is a zoonotic bacterial disease affecting mammalian species worldwide. Cattle are a major susceptible host; infection with pathogenic
    Language English
    Publishing date 2024-01-24
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2720891-6
    ISSN 2076-2607
    ISSN 2076-2607
    DOI 10.3390/microorganisms12020245
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  7. Article ; Online: Differential rates of germline heterozygote and mosaic variants in

    Evans, D Gareth / Burghel, George J / Smith, Miriam Jane

    Journal of medical genetics

    2023  Volume 60, Issue 9, Page(s) 838–841

    Abstract: NF2-related schwannomatosis is an autosomal dominant tumour predisposition condition that causes multiple benign tumours of the nervous system, especially schwannomas. This results from germline pathogenic variants in ... ...

    Abstract NF2-related schwannomatosis is an autosomal dominant tumour predisposition condition that causes multiple benign tumours of the nervous system, especially schwannomas. This results from germline pathogenic variants in the
    MeSH term(s) Humans ; Genes, Neurofibromatosis 2 ; Germ-Line Mutation/genetics ; Heterozygote ; Mutation ; Neurilemmoma/genetics
    Language English
    Publishing date 2023-01-04
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2022-108960
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    Zs.A 177: Show issues Location:
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  8. Article ; Online: Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161.

    Smith, Miriam J / Woodward, Emma R / Evans, D Gareth

    Familial cancer

    2023  Volume 22, Issue 3, Page(s) 341–344

    Abstract: Recent genetic sequencing studies in large series' of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the ... ...

    Abstract Recent genetic sequencing studies in large series' of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MB
    MeSH term(s) Infant ; Humans ; Child ; Medulloblastoma/genetics ; Basal Cell Nevus Syndrome/genetics ; Germ-Line Mutation ; Cerebellar Neoplasms/genetics ; Risk
    Language English
    Publishing date 2023-03-24
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1502496-9
    ISSN 1573-7292 ; 1389-9600
    ISSN (online) 1573-7292
    ISSN 1389-9600
    DOI 10.1007/s10689-023-00330-7
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    Zs.A 6099: Show issues Location:
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  9. Article ; Online: Metaplastic breast cancer and BRCA1: first strong evidence of a link.

    Evans, D Gareth R / Howell, Anthony / Howell Sacha, J

    European journal of human genetics : EJHG

    2023  Volume 31, Issue 11, Page(s) 1207–1208

    MeSH term(s) Humans ; Female ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Genes, BRCA1 ; BRCA1 Protein/genetics ; Germ-Line Mutation ; Germ Cells
    Chemical Substances BRCA1 Protein ; BRCA1 protein, human
    Language English
    Publishing date 2023-08-17
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-023-01441-6
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    Zs.A 3589: Show issues Location:
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  10. Article ; Online: The effect of variable labels on deep learning models trained to predict breast density.

    Squires, Steven / Harkness, Elaine F / Evans, D Gareth / Astley, Susan M

    Biomedical physics & engineering express

    2023  Volume 9, Issue 3

    Abstract: ... ...

    Abstract Purpose
    MeSH term(s) Humans ; Female ; Breast Density ; Deep Learning ; Mammography/methods ; Breast Neoplasms/diagnostic imaging
    Language English
    Publishing date 2023-04-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2057-1976
    ISSN (online) 2057-1976
    DOI 10.1088/2057-1976/accaea
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