Evers, Christina Dr. med.Universität HeidelbergHeidelberg
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Co-Autoren (Uni Heidelberg)
- Fischer, Christine (6)
- Eils, Roland (5)
- Kaufmann, Lilian (5)
- Janssen, Johannes W. G. (5)
- Schott, Sarah (5)
- Sutter, Christian (4)
- Sohn, Christof (4)
- Golatta, Michael (4)
- Heil, Jörg (4)
- Keller, Monika (3)
- Seitz, Angelika (3)
- Karch, Stephanie (3)
- Bugert, Peter (2)
- Steinbeisser, Herbert (1958-2014) (2)
- Pietz, Joachim (2)
- Kotzaeridou, Urania (2)
- Eismann, Sabine (2)
- Maas, Bianca (2)
- Schneeweiss, Andreas (2)
- Vetter, Lisa Marie Andrea (2)
- Bozukova, Gergana (2)
- Burwinkel, Barbara (2)
- Opladen, Thomas (2)
- Kloor, Matthias (2)
- Gaspar, Harald (2)
- Bruckner, Thomas (2)
- Burgemeister, Anna Lena (2)
- Gdynia, Georg (1)
- Rath, Michèlle Geneviève (1)
- Schirmacher, Peter (1)
- Knebel Doeberitz, Magnus von (1)
- Röcken, Christoph (1)
- Schnabel, Philipp Albert (1953-2021) (1)
- (weitere Einträge vorhanden...)
Co-Autoren (extern)
- Kouz, Karim (1)
- Knaus, Alexej (1)
- Villavicencio Lorini, Pablo (1)
- Lieb, Adrian (1)
- Mitter, Diana (1)
- Riess, Angelika (1)
- Lüttgen, Sabine (1)
- Seidel, Heide (1)
- Zabel, Bernhard (1)
- Spranger, Stephanie (1)
- Hempel, Maja (1)
- Steinemann, Doris (1)
- Hackmann, Karl (1)
- Bertoli-Avella, Aida M. (1)
- Hehr, Ute (1)
- Denecke, Jonas (1)
- Henneke, Marco (1)
- Yntema, Helger (1)
- Stumpel, Constance T. (1)
- Pfundt, Rolph (1)
- Strobl‐Wildemann, Gertrud (1)
- Schmidt-Bacher, Annette (1)
- Mitter, Diana (1)
- Haug, Ulrich (1)
- Morgenthaler, J. (1)
- Maas, B. (1)
- Rump, Patrick (1)
- Bisschoff, Izak Johannes (1)
- Schulze, E (1)
- Heidemann, Ph (1)
- Haag, C (1)
- Fischer, C (1)
- Dunstheimer, D (1)
- (weitere Einträge vorhanden...)
Publikationen in heiBIB 
- Tibelius, Alexandra: Compilation of genotype and phenotype data in GCDH-LOVD for variant classification and further application / Alexandra Tibelius, Christina Evers, Sabrina Oeser, Isabelle Rinke, Anna Jauch and Katrin Hinderhofe… , 14 December 2023. - 17 S.
In: Genes, ISSN 2073-4425. 14(2023), 12, Artikel-ID 2218, Seite 1-17
DOI: 10.3390/genes14122218
- Ott, Tim: The frog Xenopus as a model to study Joubert syndrome : the case of a human patient with compound heterozygous variants in PIBF1 / Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angel… , 25 February 2019. - 13 S.
In: Frontiers in physiology, ISSN 1664-042X. 10(2019) Artikel-Nummer 134, 13 Seiten
DOI: 10.3389/fphys.2019.00134
- Evers, Christina: Genomweite Analysen im klinischen Kontext / vorgelegt von Christina Maria Evers. -
Heidelberg, 2018. - 1 Band (verschiedene Seitenzählungen) : Illustrationen, Diagramme
- Knaus, Alexej: Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis / Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, M… , 09 January 2018
In: Genome medicine, ISSN 1756-994X. 10(2018) Artikel-Nummer 3, 13 Seiten
DOI: 10.1186/s13073-017-0510-5
- Evers, Christina: Impact of clinical exomes in neurodevelopmental and neurometabolic disorders / Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lili… . - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 4, S. 297-307
DOI: 10.1016/j.ymgme.2017.06.014
- Evers, Christina: Diagnosis of CoPAN by whole exome sequencing : waking up a sleeping tiger's eye / Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer… . - 9 S.
In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 7, S. 1878-1886
DOI: 10.1002/ajmg.a.38252
- Dikow, Nicola: DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome / Nicola Dikow, Martin Granzow, Luitgard M. Graul‐Neumann, Stephanie Karch, Katrin Hinderhofer, Nagara… . - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 5, S. 1369-1373
DOI: 10.1002/ajmg.a.38164
- Schott, Sarah: Women at familial risk of breast cancer electing for prophylactic mastectomy : frequencies, procedures, and decision-making characteristics / Sarah Schott, Lisa Vetter, Monika Keller, Thomas Bruckner, Michael Golatta, Sabine Eismann, Nicola D… , 24 April 2017. - 8 S.
In: Archives of gynecology and obstetrics, ISSN 1432-0711. 295(2017), 6, Seite 1451-1458
DOI: 10.1007/s00404-017-4376-y
- Schorling, David: Expanding phenotype of De Novo mutations in GNAO1 : four new cases and review of literature / David C. Schorling, Tobias Dietel, Christina Evers, Katrin Hinderhofer, Rudolf Korinthenberg, Daniel… , 19. Juni 2017. - 7 S.
In: Neuropediatrics, ISSN 1439-1899. 48(2017), 05, Seite 371-377
DOI: 10.1055/s-0037-1603977
- Evers, Christina: Familial breast cancer : genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect / Christina Evers, Christine Fischer, Nicola Dikow, Sarah Schott
In: PLOS ONE, ISSN 1932-6203. 12(2017,5) Artikel-Nummer e0177893, 16 Seiten
DOI: 10.1371/journal.pone.0177893
- Kouz, Karim: Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation / Karim Kouz, Christina Lissewski, Stephanie Spranger, MD, Diana Mitter, MD, Angelika Riess, MD, Vane… , 2016. - 9 S.
In: Genetics in medicine, ISSN 1530-0366. 18(2016), 12, Seite 1226-1234
DOI: 10.1038/gim.2016.32
- Vetter, Lisa Marie Andrea: Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening : a monocenter study in Germany / Lisa Vetter, Monika Keller, Thomas Bruckner, Michael Golatta, Sabine Eismann, Christina Evers, Nicol… , 9 March 2016. - 11 S.
In: Breast cancer research and treatment, ISSN 1573-7217. 156(2016), 2, Seite 289-299
DOI: 10.1007/s10549-016-3748-5
- Evers, Christina: Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy / Christina Evers, Lilian Kaufmann, Angelika Seitz, Nagarajan Paramasivam, Martin Granzow, Stephanie K… . - 8 S.
In: American journal of medical genetics, ISSN 1552-4833. 170(2016), 6, S. 1502-1509
DOI: 10.1002/ajmg.a.37632
- Evers, Christina: SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract / Christina Evers, Nagarajan Paramasivam, Katrin Hinderhofer, Christine Fischer, Martin Granzow, Annet… , 25 March 2015. - 7 S.
In: European journal of human genetics, ISSN 1476-5438. 23(2015), 12, Seite 1627-1633
DOI: 10.1038/ejhg.2015.46
- Evers, Christina: Duplication Xp11.22-p14 in females : does X-inactivation help in assessing their significance? / Christina Evers, Diana Mitter, Gertrud Strobl‐Wildemann, Ulrich Haug, Karl Hackmann, Bianca Maas, Jo… , 18 February 2015. - 10 S.
In: American journal of medical genetics, ISSN 1552-4833. 167(2015), 3, Seite 553-562
DOI: 10.1002/ajmg.a.36897
- Moog, Ute: Phenotypic and molecular insights into CASK-related disorders in males, 2015. - 20 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. Bd. 10.2015, Art.-Nr. 44, insges. 20 S.
DOI: 10.1186/s13023-015-0256-3
- Bertoli-Avella, Aida M.: Mutations in a TGF-β ligand, TGFB3, cause syndromicaortic aneurysms and dissections / Aida M. Bertoli-Avella, MD, PHD, Elisabeth Gillis, MSC, Hiroko Morisaki, MD, PHD, Judith M.A. Verhag… , 30 March 2015. - 13 S.
In: Journal of the American College of Cardiology, ISSN 1558-3597. 65(2015), 13, Seite 1324-1336
DOI: 10.1016/j.jacc.2015.01.040
- Tzschach, Andreas: Next-generation sequencing in X-linked intellectual disability / Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, C… . - 6 S.
In: European journal of human genetics, ISSN 1476-5438. 23(2015), 11, S. 1513-1518
DOI: 10.1038/ejhg.2015.5
- Granzow, Martin: Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing : lessons of the bioinformatics pipeline / M. Granzow, N. Paramasivam, K. Hinderhofer, C. Fischer, S. Chotewutmontri, L. Kaufmann, C. Evers, U.… . - 7 S.
In: Molecular and cellular probes, ISSN 1096-1194. 29(2015), 5, S. 323-329
DOI: 10.1016/j.mcp.2015.05.012
- Moog, Ute: Phenotypic and molecular insights into CASK-related disorders in males / Ute Moog; Tatjana Bierhals; Kristina Brand; Jan Bautsch; Saskia Biskup; Thomas Brune; Jonas Denecke;… . -
London: BioMed Central, 2016. - 1 Online-Ressource (20 Seiten)
- Rump, Patrick: Central 22q11.2 deletions / Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Ve… , 14 August 2014. - 17 S.
In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 11, Seite 2707-2723
DOI: 10.1002/ajmg.a.36711
- Surowy, Harald: Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance / Harald Martin Surowy, Christian Sutter, Max Mittnacht, Ruediger Klaes, Dieter Schaefer, Christina Ev… , 2014. - 10 S.
In: Breast cancer research and treatment, ISSN 1573-7217. 145(2014), 2, Seite 451-460
DOI: 10.1007/s10549-014-2943-5
- Bauer, Ralf: The "Wagshurst study" : p. Val40Ile transthyretin gene variant causes late-onset cardiomyopathy / Ralf Bauer, Nicola Dikow, Andreas Brauer, Michael Kreuter, Sebastian Buss, Christina Evers, Christop… , 2014. - 9 S.
In: Amyloid, ISSN 1744-2818. 21(2014), 4, Seite 267-275
DOI: 10.3109/13506129.2014.967846
- Evers, Christina: Mosaic deletion of EXOC6B : further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability / Christina Evers, Bianca Maas, Karin A. Koch, Anna Jauch, Johannes W.G. Janssen, Christian Sutter, Mi… . - 7 S.
In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 12, S. 3088-3094
DOI: 10.1002/ajmg.a.36770
- Evers, Christina: Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1 : further insights into a genetic paradox / C. Evers, M.S. Jungwirth, J. Morgenthaler, K. Hinderhofer, B. Maas, J.W.G. Janssen, A. Jauch, U. Heh… , 2014. - 6 S.
In: Clinical genetics, ISSN 1399-0004. 85(2014), 4, Seite 347-353
DOI: 10.1111/cge.12171
- Bisschoff, Izak Johannes: Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome : a study of the extensive clinical variability / Izak J. Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, P… , 2013. - 11 S.
In: Human mutation, ISSN 1098-1004. 34(2013), 1, Seite 237-247
DOI: 10.1002/humu.22224
- Evers, Christina: A small terminal deletion 11q in a boy without Jacobsen syndrome : narrowing the critical region for the 11q Jacobsen syndrome phenotype / Christina Evers, Johannes W.G. Janssen, Anna Jauch, Michael Bonin, and Ute Moog, March 2012. - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. 158A(2012), 3, Seite 680-684
DOI: 10.1002/ajmg.a.34433
- Evers, Christina: Hepatoblastoma in two siblings and familial adenomatous polyposis : causal nexus or coincidence? / Christina Evers, Harald Gaspar, Matthias Kloor, Gergana Bozukova, Martina Kadmon, Monika Keller, Chr… , September 2012. - 5 S.
In: Familial cancer, ISSN 1573-7292. 11(2012), 3, Seite 529-533
DOI: 10.1007/s10689-012-9538-2
- Huth, Cathrin: The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors / Cathrin Huth, Matthias Kloor, Anita Y. Voigt, Gergana Bozukova, Christina Evers, Harald Gaspar, Mirj… . - 6 S.
In: Modern pathology, ISSN 1530-0285. 25(2012), 6, S. 911-916
DOI: 10.1038/modpathol.2012.30
- Rath, Michèlle Geneviève: Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene / Michelle G. Rath, Farnoosh Fathali-Zadeh, Anne Langheinz, Sandrine Tchatchou, Theda Voigtländer, Jör… , 8 January 2012. - 10 S.
In: Breast cancer research and treatment, ISSN 1573-7217. 133(2012), 2, Seite 725-734
DOI: 10.1007/s10549-011-1917-0
- Evers, Christina: Pseudoautosomal inheritance of Léri-Weill syndrome : what does it mean? / C. Evers, P.H. Heidemann, D. Dunstheimer, E. Schulze, C. Haag, J.W.G. Janssen, C. Fischer, A. Jauch … , 07 April 2011. - 6 S.
In: Clinical genetics, ISSN 1399-0004. 79(2011), 5, Seite 489-494
DOI: 10.1111/j.1399-0004.2010.01488.x
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