Publications by authors named "Deborah Bartholdi"

39Publications

Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.

Int J Legal Med 2019 Nov 27;133(6):1733-1742. Epub 2019 Aug 27.

Department of Cardiology, Inselspital, University Hospital Bern, Bern, Switzerland.

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http://dx.doi.org/10.1007/s00414-019-02141-xDOI Listing
November 2019

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.

Clin Case Rep 2018 02 17;6(2):420-425. Epub 2018 Jan 17.

Department of Obstetrics & Gynecology Inselspital University of Bern Switzerland.

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http://dx.doi.org/10.1002/ccr3.1368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799658PMC
February 2018

Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1.

Am J Respir Crit Care Med 2018 03;197(5):661-662

5 Department of Respiratory Medicine, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; and.

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http://dx.doi.org/10.1164/rccm.201709-1963IMDOI Listing
March 2018

Late-onset severe long QT syndrome.

Ann Noninvasive Electrocardiol 2018 07 30;23(4):e12517. Epub 2017 Nov 30.

University Clinic of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1111/anec.12517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6931632PMC
July 2018

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

BMC Med Genet 2017 02 28;18(1):22. Epub 2017 Feb 28.

Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.

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http://dx.doi.org/10.1186/s12881-017-0383-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331656PMC
February 2017

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

Eur J Hum Genet 2015 Mar 18;23(3):409-12. Epub 2014 Jun 18.

1] Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany [2] CeGaT GmbH, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326712PMC
March 2015

Transient myeloproliferative disorder in neonates without Down syndrome: case report and review.

Eur J Haematol 2015 May 14;94(5):456-62. Epub 2014 Jun 14.

Department of haematology/oncology, University Children's Hospital Basel, Basel, Switzerland.

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http://www.springerlink.com/index/54540310824G38P2.pdf
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http://doi.wiley.com/10.1111/ejh.12382
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http://dx.doi.org/10.1111/ejh.12382DOI Listing
May 2015

Further delineation of the SATB2 phenotype.

Eur J Hum Genet 2014 Aug 4;22(8):1034-9. Epub 2013 Dec 4.

Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350596PMC
August 2014

[Genetic testing in the fetus and child].

Ther Umsch 2013 Nov;70(11):621-31

Institut für Klinische Genetik, Klinikum Stuttgart.

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http://dx.doi.org/10.1024/0040-5930/a000457DOI Listing
November 2013

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.

Am J Med Genet A 2013 Aug 21;161A(8):1853-9. Epub 2013 Jun 21.

Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.35994DOI Listing
August 2013

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Orphanet J Rare Dis 2013 Feb 25;8:36. Epub 2013 Feb 25.

Service de Dermatologie - Centre de référence national des Maladies Génétiques à Expression Cutanée MAGEC, INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008PMC
February 2013

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol 2012 23;122(1-2):1-6. Epub 2013 Feb 23.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1159/000349989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194PMC
October 2013

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Am J Hum Genet 2013 Jan 27;92(1):144-9. Epub 2012 Dec 27.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542463PMC
January 2013

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Hum Mutat 2009 Dec;30(12):1667-75

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid and CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.

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http://dx.doi.org/10.1002/humu.21117DOI Listing
December 2009

Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis.

Eur J Med Genet 2008 May-Jun;51(3):197-208. Epub 2008 Feb 8.

Division of Pediatric Neurology, University Children's Hospital of Zurich, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.ejmg.2008.01.004DOI Listing
August 2008

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Eur J Med Genet 2008 Mar-Apr;51(2):113-23. Epub 2008 Jan 4.

Institute of Medical Genetics, University of Zürich, Schorenstrasse 16, 8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.005DOI Listing
June 2008

Identification of the genetic defect in the original Wagner syndrome family.

Mol Vis 2006 Apr 17;12:350-5. Epub 2006 Apr 17.

Division of Medical Molecular Genetics and Gene Diagnostics, University of Zurich, Zurich, Switzerland.

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April 2006

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Eur J Hum Genet 2005 Mar;13(3):273-7

Institute of Medical Genetics, University of Zurich, Switzerland.

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http://dx.doi.org/10.1038/sj.ejhg.5201337DOI Listing
March 2005