Diana Mitter

Diana Mitter

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Diana Mitter

Diana Mitter

Publications by authors named "Diana Mitter"

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PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Defining and expanding the phenotype of -associated developmental epileptic encephalopathy.

Neurol Genet 2019 Dec 10;5(6):e373. Epub 2019 Dec 10.

Department of Epilepsy Genetics and Precision Medicine (K.J.M., E.G., G.R., R.S.M.), The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services (K.J.M., E.G., R.S.M.), University of Southern Denmark, Odense; Institute of Human Genetics (D.M., R. Jamra, A.F., J.R.L.), University of Leipzig Medical Center, Germany; Institute of Structural Biology (R. Janowski, D.N.), Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; Department of Paediatric Radiology (C.R.), University of Leipzig Medical Center, Germany; Department of Epilepsy, Sleep and Pediatric Neurophysiology (J.T.), Lyon University Hospital, France; Neuropediatric Unit (A.-L.P., D.M.V., G.L.), Lyon University Hospital, France; Department of Medical Genetics (N.C., G.L.), Lyon University Hospital, France; GenDev Team (N.C.), CNRS UMR 5292, INSERM U1028, CNRL and University of Lyon, France; Department of Genetics (E.B.), University Medical Center Utrecht, The Netherlands; Department of Child Neurology (K.G.), Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands; Department of Paediatrics (A.P.B.), Copenhagen University Hospital Rigshospitalet, Denmark; Baylor College of Medicine (S.M., K.N.), Children's Hospital of San Antonio; Undiagnosed Diseases Program (G.B., C.P.), Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth; Western Australian Register of Developmental Anomalies (G.B., D.G.), Australia; Telethon Kids Institute and the School of Paediatrics and Child Health (G.B.), University of Western Australia, Perth; Linear Clinical Research (L.D.), WA, Australia; Center of Human Genetics (S.S), Jena University Hospital, Germany; Department of Neuropediatrics (A.D.), Jena University Hospital, Germany; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Division of Neuropediatrics (A.M.), University of Leipzig Medical Center, Germany; Amplexa Genetics (H.H.), Odense, Denmark; Clinic for Children (H.H.), Værløse, Denmark; Center for Integrative Brain Research (G.M.), Seattle Children's Research Institute, WA; Department of Pediatrics (G.M.), University of Washington, Seattle; Medical Genetics Unit (F.B.), Department of Life, Health and Environmental Sciences, University of L'Aquila, Italy; Istituto Dermopatico dell'Immacolata (F.B.), IDI-IRCCS, Rome, Italy; Institute of Human Genetics (T.B., M.H.), University Medical Center Hamburg-Eppendorf, Germany; Childrens Hospital (J.D.), University Medical Center Hamburg-Eppendorf, Germany; University of Copenhagen (G.R.), Denmark; Institute for Human Genetics (P.M.), University Hospital Magdeburg, Germany; Children's Hospital A. Meyer (R.G., A.V.), University of Florence, Italy; and Institute of Pharmaceutical Biotechnology (D.N.), Ulm University, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927360PMC
December 2019

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

Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome.

JAMA Dermatol 2016 07;152(7):844-5

Department of Dermatology, Venerology, and Allergology, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1001/jamadermatol.2016.0350DOI Listing
July 2016

Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene.

J Peripher Nerv Syst 2016 Jun;21(2):111-113

Department of Neurology, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1111/jns.12165DOI Listing
June 2016

Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3.

Clin Endocrinol (Oxf) 2016 Jan 31;84(1):141-8. Epub 2015 Jul 31.

Department of Human Genetics, University of Halle, Halle, Germany.

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http://doi.wiley.com/10.1111/cen.12837
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http://dx.doi.org/10.1111/cen.12837DOI Listing
January 2016

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Eur J Hum Genet 2013 Aug 12;21(8):887-90. Epub 2012 Dec 12.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722677PMC
August 2013

Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.

Aging (Albany NY) 2013 Jun;5(6):445-59

Department of Women and Child Health, Hospital for Children and Adolescents, Centre of Pediatric Research, University Hospital, University of Leipzig, Leipzig, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824411PMC
http://dx.doi.org/10.18632/aging.100566DOI Listing
June 2013

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

Eur J Hum Genet 2011 Sep 20;19(9):947-58. Epub 2011 Apr 20.

Institut für Humangenetik, Universitätsklinikum Essen, Philipp-Rosenthal-Straße 55, Leipzig, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179359PMC
September 2011

The human retinoblastoma gene is imprinted.

PLoS Genet 2009 Dec 24;5(12):e1000790. Epub 2009 Dec 24.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.plos.org/10.1371/journal.pgen.1000790
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http://dx.doi.org/10.1371/journal.pgen.1000790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791201PMC
December 2009

Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.

Fam Cancer 2009 29;8(1):55-8. Epub 2008 May 29.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstr. 55, Essen, 45122, Germany.

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http://dx.doi.org/10.1007/s10689-008-9198-4DOI Listing
April 2009

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

Am J Med Genet A 2008 Mar;146A(6):779-83

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.32230
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http://dx.doi.org/10.1002/ajmg.a.32230DOI Listing
March 2008

Estrogen receptor {beta}1 exerts antitumoral effects on SK-OV-3 ovarian cancer cells.

J Endocrinol 2007 Jun;193(3):421-33

Department of Obstetrics and Gynecology, Klinik für Frauenheilkunde und Geburtshilfe, University of Regensburg, Landshuter Strasse 65, 93053 Regensburg, Germany.

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http://dx.doi.org/10.1677/JOE-07-0087DOI Listing
June 2007

The synaptophysin/synaptobrevin complex dissociates independently of neuroexocytosis.

J Neurochem 2004 Jul;90(1):1-8

Centrum für Anatomie, Charité Universitätsmedizin, Berlin, AG Funktionelle Zellbiologie, Berlin, Germany.

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http://dx.doi.org/10.1111/j.1471-4159.2004.02472.xDOI Listing
July 2004

The synaptophysin/synaptobrevin interaction critically depends on the cholesterol content.

J Neurochem 2003 Jan;84(1):35-42

Institut für Anatomie der Charité, Mathematisch-natur-wissenschaftliche Fakultät I, Humboldt Universität zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.1046/j.1471-4159.2003.01258.xDOI Listing
January 2003