Publications by authors named "Imma Rost"

17Publications

Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.

Neuropediatrics 2020 Oct 21. Epub 2020 Oct 21.

Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany.

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http://dx.doi.org/10.1055/s-0040-1712488DOI Listing
October 2020

Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.

Clin EEG Neurosci 2020 Jan 25;51(1):61-69. Epub 2019 Sep 25.

Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1177/1550059419876518DOI Listing
January 2020

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Am J Med Genet A 2017 Sep 25;173(9):2534-2538. Epub 2017 Jul 25.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38345DOI Listing
September 2017

[Current methods in genetic analysis : an approach for genetics-based preventive medicine].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2015 Feb;58(2):113-20

Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Lochhamerstr. 29, 82152, Martinsried, Deutschland,

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http://link.springer.com/10.1007/s00103-014-2088-z
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http://dx.doi.org/10.1007/s00103-014-2088-zDOI Listing
February 2015

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Gene 2013 Jul 5;523(1):92-8. Epub 2013 Apr 5.

Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.gene.2013.03.078DOI Listing
July 2013

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Eur J Med Genet 2012 Mar 31;55(3):211-5. Epub 2012 Jan 31.

Center for Human Genetics and Laboratory Medicine Dr. Klein and Dr. Rost, Martinsried, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.011DOI Listing
March 2012

A novel chromosomal aberration in a child with suspected Juberg-Hayward syndrome.

Clin Dysmorphol 2011 Apr;20(2):121-6

Department of Pediatric Surgery, Medical Genetics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany.

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http://dx.doi.org/10.1097/MCD.0b013e328341679eDOI Listing
April 2011

Parental origin and functional relevance of a de novo UBE3A variant.

Eur J Med Genet 2011 Jan-Feb;54(1):19-24. Epub 2010 Oct 8.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45147 Essen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.005DOI Listing
June 2011

Endochondral gigantism: a newly recognized skeletal dysplasia with pre- and postnatal overgrowth and endocrine abnormalities.

Am J Med Genet A 2007 Aug;143A(16):1868-75

Department of Paediatric Endocrinology and Medical Genetics, Dr. von Hauner Children's Hospital University of Munich, Munich, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31839DOI Listing
August 2007

MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation.

Am J Med Genet 2002 Jan;107(1):18-25

Department of Medical Genetics, University of Munich, Munich, Germany.

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http://dx.doi.org/10.1002/ajmg.10027DOI Listing
January 2002