Showing 21 - 29 results of 29 for search '"Coffin–Siris syndrome"', query time: 1.55s Refine Results
  1. 21
    Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders
    by Alberto J Lopez, Marcelo A Wood
    Published 2015-04-01
    “... been linked to Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, schizophrenia, and Autism Spectrum...”
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    Article
  2. 22
    Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder
    “... with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). Here, we generated an induced pluripotent stem...”
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    Article
  3. 23
    Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders
    “... are linked to neurodevelopmental disorders such as Coffin-Siris syndrome, Nicolaides-Baraitser syndrome...”
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    Article
  4. 24
    Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease
    “... are associated with Kleefstra syndrome (OMIM: 610253) and Coffin-Siris syndrome (OMIM: 135900), respectively...”
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    Article
  5. 25
    Discovering candidate imprinted genes and imprinting control regions in the human genome
    by Minou Bina
    Published 2020-05-01
    “..., Coffin-Siris syndrome, progressive myoclonic epilepsy-10, microcephalic osteodysplastic primordial...”
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    Article
  6. 26
    BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex—a tumour suppressor or tumour-promoting factor?
    “... is characteristic for Coffin–Siris syndrome. It is believed that BRM usually acts as a tumour suppressor or a tumour...”
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    Article
  7. 27
    MUTATIONS OF THE SMARCB1 GENE IN HUMAN CANCERS
    “... in the exons 8–9 can result in Coffin-Siris syndrome characterized by mental retardation and developmental...”
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    Article
  8. 28
    Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management
    “..., germline variants of SMARCB1 and SMARCA4 have been identified also in patients with Coffin-Siris syndrome...”
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    Article
  9. 29
    CRISPR/Cas9-mediated genome engineering of the SMARCB1 gene locus
    by Lechler, Marion Brigitte
    Published 2021
    “... gene are frequently observed in another disease entity, Coffin Siris-syndrome (CSS). CSS is a...”
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