Search Results - "Ma van Ravenswaaij, Conny"

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    Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome by Yu, Tian, Meiners, Linda C, Danielsen, Katrin, Wong, Monica Ty, Bowler, Timothy, Reinberg, Danny, Scambler, Peter J, van Ravenswaaij-Arts, Conny Ma, Basson, M Albert

    Published in eLife (24-12-2013)
    “…Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence of 1/15,000. We have little understanding…”
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    Journal Article
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    Study of smell and reproductive organs in a mouse model for CHARGE syndrome by BERGMAN, Jorieke E. H, BOSMAN, Erika A, VAN RAVENSWAAIJ-ARTS, Conny M. A, STEEL, Karen P

    Published in European journal of human genetics : EJHG (01-02-2010)
    “…CHARGE syndrome is a multiple congenital anomaly syndrome characterised by Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or…”
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    Journal Article
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    Mutation update on the CHD7 gene involved in CHARGE syndrome by Janssen, Nicole, Bergman, Jorieke E. H., Swertz, Morris A., Tranebjaerg, Lisbeth, Lodahl, Marianne, Schoots, Jeroen, Hofstra, Robert M. W., van Ravenswaaij-Arts, Conny M. A., Hoefsloot, Lies H.

    Published in Human mutation (01-08-2012)
    “…CHD7 is a member of the chromodomain helicase DNA‐binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling…”
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    Journal Article
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    CHARGE syndrome: a review of the immunological aspects by Wong, Monica T Y, Schölvinck, Elisabeth H, Lambeck, Annechien J A, van Ravenswaaij-Arts, Conny M A

    Published in European journal of human genetics : EJHG (01-11-2015)
    “…CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic…”
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    Journal Article
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    The introduction of arrays in prenatal diagnosis: A special challenge by Vetro, Annalisa, Bouman, Katelijne, Hastings, Ros, McMullan, Dominic J., Vermeesch, Joris R., Miller, Konstantin, Sikkema-Raddatz, Birgit, Ledbetter, David H., Zuffardi, Orsetta, van Ravenswaaij-Arts, Conny M.A.

    Published in Human mutation (01-06-2012)
    “…Genome‐wide arrays are rapidly replacing conventional karyotyping in postnatal cytogenetic diagnostics and there is a growing request for arrays in the…”
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    Journal Article
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    A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin by McGregor-Schuerman, Magda, Lo Fo Sang, Audrey, Bihari, Santusha, Ramdajal, Natasja, Suijkerbuijk, Ron F., van Ravenswaaij-Arts, Conny MA

    Published in European journal of medical genetics (01-06-2020)
    “…Aneuploidy mosaicism involving two complementary different autosomal trisomy cell lines is extremely rare. Although a mosaic double trisomy 8/trisomy 21 has…”
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    Journal Article
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    A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs by Van den Heuvel, Edwin R, Zwanenburg, Renée J, Van Ravenswaaij-Arts, Conny MA

    Published in Statistical Methods in Medical Research (01-04-2017)
    “…This paper compares the power of the parallel group design, the matched-pairs design, and several options for the stepped wedge and delayed start designs for…”
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    Book Review Journal Article
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    Duplication 2p25 in a child with clinical features of CHARGE syndrome by Sperry, Ethan D., Schuette, Jane L., van Ravenswaaij-Arts, Conny M. A., Green, Glenn E., Martin, Donna M.

    “…CHARGE syndrome is a dominant disorder characterized by ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital…”
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    Journal Article
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