Publications by authors named "Isabel Filges"

36Publications

'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.

J Med Genet 2020 Dec 19;57(12):797-807. Epub 2020 May 19.

Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland

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December 2020

Dual independent genetic etiologies in a lethal complex malformation phenotype.

Ultraschall Med 2020 04 7;41(2):112-114. Epub 2020 Apr 7.

Center for Prenatal Ultrasound, Freie Strasse, Basel and University of Basel, Switzerland.

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April 2020

Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.

Mol Genet Genomic Med 2020 04 26;8(4):e1178. Epub 2020 Feb 26.

Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.

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April 2020

CUGC for Stromme syndrome and CENPF-related disorders.

Eur J Hum Genet 2020 01 5;28(1):132-136. Epub 2019 Sep 5.

Division of Pediatric and Adolescent Medicine, Oslo University Hospital, University of Oslo, Oslo, Norway.

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January 2020

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.

Am J Med Genet C Semin Med Genet 2019 09 18;181(3):327-336. Epub 2019 Jul 18.

Department of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.

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September 2019

Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.

Eur J Hum Genet 2019 05 24;27(5):730-737. Epub 2019 Jan 24.

Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.

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May 2019

A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa.

Ultraschall Med 2018 Dec 14;39(6):600-601. Epub 2018 Dec 14.

Ultraschallpraxis Freie Strasse, Basel, Switzerland.

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December 2018

A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.

Prenat Diagn 2017 07 13;37(7):720-724. Epub 2017 Jun 13.

Medical Genetics, University Hospital Basel, Basel, Switzerland.

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July 2017

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

Mol Cytogenet 2016 3;9:88. Epub 2016 Dec 3.

Medical Genetics, University Hospital Basel and University of Basel, Schönbeinstrasse 40, CH-4031 Basel, Switzerland.

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December 2016

Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.

Prenat Diagn 2015 Oct 22;35(10):1005-9. Epub 2014 Aug 22.

Department of Medical Genetics, Children's and Women's Hospital, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.

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October 2015

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

Am J Med Genet A 2014 Aug 28;164A(8):2003-12. Epub 2014 May 28.

Department of Medical Genetics, BC Children's and Women's Hospital, Child and Family Research Institute, University of British Columbia, Vancouver, Canada; Division of Medical Genetics, Department of Biomedicine, University Hospitals Basel, Basel, Switzerland.

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August 2014

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Am J Med Genet A 2014 May 23;164A(5):1118-26. Epub 2014 Jan 23.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.

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May 2014

Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.

Prenat Diagn 2013 Jan;33(1):61-74

Department of Medical Genetics, BC Children's and Women's Hospital, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.

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January 2013

Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

Microarrays (Basel) 2013 Dec 5;2(4):304-17. Epub 2013 Dec 5.

Medical Genetics, Department of Biomedicine, University Hospital Basel, Burgfelderstr. 101, Building J, CH-4055 Basel, Switzerland.

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December 2013

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.

Mol Cytogenet 2012 Sep 17;5(1):38. Epub 2012 Sep 17.

Dr, med, Isabel Filges, Division of Medical Genetics, University Children's Hospital and Department of Biomedicine, University of Basel, Burgfelderstrasse 101, Building J, CH-4055, Basel, Switzerland.

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September 2012