Marie Shaw

Marie Shaw

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Marie Shaw

Marie Shaw

Publications by authors named "Marie Shaw"

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X-linked Intellectual Disability: Phenotypic Expression in Carrier Females.

Clin Genet 2019 Nov 8. Epub 2019 Nov 8.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1111/cge.13667DOI Listing
November 2019

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

Eur J Med Genet 2019 Oct 23:103799. Epub 2019 Oct 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103799DOI Listing
October 2019

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.

Eur J Hum Genet 2017 09 14;25(9):1078-1082. Epub 2017 Jun 14.

The Robinson Research Institute, The University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558180PMC
September 2017

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.

Eur J Hum Genet 2016 11 25;24(11):1612-1616. Epub 2016 May 25.

School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2016.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110046PMC
November 2016

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Eur J Med Genet 2015 Jun-Jul;58(6-7):364-8. Epub 2015 Apr 28.

Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.04.004DOI Listing
March 2016

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.

Hum Mutat 2015 Dec 10;36(12):1176-87. Epub 2015 Sep 10.

Department of Biochemistry and Biophysics, University of Rochester School of Medicine, Rochester, New York, 14642.

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http://dx.doi.org/10.1002/humu.22897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643400PMC
December 2015

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

J Clin Endocrinol Metab 2015 May 17;100(5):E815-20. Epub 2015 Mar 17.

School of Molecular & Biomedical Science (B.H., J.H., P.T.), Robinson Research Institute (B.H., J.H., M.C., M.S., J.G., P.T.), School of Pediatrics and Reproductive Health (M.C., M.S., J.G.), The University of Adelaide, Adelaide, Australia 5005; Manchester Centre For Genomic Medicine (J.I., J.C.-S.), Central Manchester National Health Service Foundation Trust, University of Manchester, Manchester M13 9WL; and Department of Child Health (L.P.), Royal Manchester Children's Hospital, University of Manchester, Manchester M13 9WL.

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http://dx.doi.org/10.1210/jc.2014-4383DOI Listing
May 2015

FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Am J Med Genet A 2013 Dec 24;161A(12):3166-75. Epub 2013 Sep 24.

Hunter Genetics, Newcastle, NSW, Australia; John Hunter Children's Hospital, Newcastle, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36174DOI Listing
December 2013

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.

Hum Mol Genet 2013 Aug 5;22(15):2984-91. Epub 2013 Apr 5.

Institut de Pharmacologie Moléculaire et Cellulaire, CNRS UMR 7275, 660 Route des Lucioles, F-06560 Valbonne, France.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddt155DOI Listing
August 2013

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.

Hum Mol Genet 2006 Jun 4;15(12):1972-83. Epub 2006 May 4.

Department of Opthalmology, Flinders University, Australia.

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http://dx.doi.org/10.1093/hmg/ddl120DOI Listing
June 2006

Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not.

Gene 2003 Nov;320:137-44

Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1016/s0378-1119(03)00819-9DOI Listing
November 2003

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Nat Genet 2002 Dec 4;32(4):661-5. Epub 2002 Nov 4.

Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia.

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http://www.nature.com/articles/ng1040
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http://dx.doi.org/10.1038/ng1040DOI Listing
December 2002

A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation.

Eur J Hum Genet 2002 Nov;10(11):767-72

Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, SA, Australia.

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http://dx.doi.org/10.1038/sj.ejhg.5200881DOI Listing
November 2002

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Nat Genet 2002 Apr 11;30(4):441-5. Epub 2002 Mar 11.

Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.

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http://dx.doi.org/10.1038/ng862DOI Listing
April 2002