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Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/ split-foot malformation: array CGH screening of 134 unrelated families.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0108-6
By:
- Tayebi, Naeimeh;
- Jamsheer, Aleksander;
- Flöttmann, Ricarda;
- Sowinska-Seidler, Anna;
- Doelken, Sandra C.;
- Oehl-Jaschkowitz, Barbara;
- Hülsemann, Wiebke;
- Habenicht, Rolf;
- Klopocki, Eva;
- Mundlos, Stefan;
- Spielmann, Malte
Publication type:
Article
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
Published in:
2014
By:
- Tayebi, Naeimeh;
- Jamsheer, Aleksander;
- Flöttmann, Ricarda;
- Sowinska-Seidler, Anna;
- Doelken, Sandra C;
- Oehl-Jaschkowitz, Barbara;
- Hülsemann, Wiebke;
- Habenicht, Rolf;
- Klopocki, Eva;
- Mundlos, Stefan;
- Spielmann, Malte
Publication type:
journal article
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Published in:
Nucleic Acids Research, 2014, v. 42, n. D1, p. D966
By:
- Köhler, Sebastian;
- Doelken, Sandra C.;
- Mungall, Christopher J.;
- Bauer, Sebastian;
- Firth, Helen V.;
- Bailleul-Forestier, Isabelle;
- Black, Graeme C. M.;
- Brown, Danielle L.;
- Brudno, Michael;
- Campbell, Jennifer;
- FitzPatrick, David R.;
- Eppig, Janan T.;
- Jackson, Andrew P.;
- Freson, Kathleen;
- Girdea, Marta;
- Helbig, Ingo;
- Hurst, Jane A.;
- Jähn, Johanna;
- Jackson, Laird G.;
- Kelly, Anne M.
Publication type:
Article
Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 218, doi. 10.1002/ajmg.a.35695
By:
- Doelken, Sandra C.;
- Seeger, Karl;
- Hundsdoerfer, Patrick;
- Weber‐Ferro, Wencke;
- Klopocki, Eva;
- Graul‐Neumann, Luitgard
Publication type:
Article
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Published in:
Nature Genetics, 2010, v. 42, n. 10, p. 827, doi. 10.1038/ng.653
By:
- Krawitz, Peter M.;
- Schweiger, Michal R.;
- Rödelsperger, Christian;
- Marcelis, Carlo;
- Kölsch, Uwe;
- Meisel, Christian;
- Stephani, Friederike;
- Kinoshita, Taroh;
- Murakami, Yoshiko;
- Bauer, Sebastian;
- Isau, Melanie;
- Fischer, Axel;
- Dahl, Andreas;
- Kerick, Martin;
- Hecht, Jochen;
- Köhler, Sebastian;
- Jäger, Marten;
- Grünhagen, Johannes;
- de Condor, Birgit Jonske;
- Doelken, Sandra
Publication type:
Article
Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance.
Published in:
PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035062
By:
- Zimmer, Julia;
- Doelken, Sandra C.;
- Horn, Denise;
- Groppe, Jay C.;
- Shore, Eileen M.;
- Kaplan, Frederick S.;
- Seemann, Petra
Publication type:
Article
Induction of Macrophage Chemotaxis by Aortic Extracts from Patients with Marfan Syndrome Is Related to Elastin Binding Protein.
Published in:
PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020138
By:
- Gao Guo;
- Gehle, Petra;
- Doelken, Sandra;
- Martin-Ventura, José Luis;
- von Kodolitsch, Yskert;
- Hetzer, Roland;
- Robinson, Peter N.
Publication type:
Article
Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora.
Published in:
Database: The Journal of Biological Databases & Curation, 2015, v. 2015, p. 1, doi. 10.1093/database/bav005
By:
- Groza, Tudor;
- Köhler, Sebastian;
- Doelken, Sandra;
- Collier, Nigel;
- Oellrich, Anika;
- Smedley, Damian;
- Couto, Francisco M.;
- Baynam, Gareth;
- Zankl, Andreas;
- Robinson, Peter N.
Publication type:
Article
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 6, p. 726, doi. 10.1038/ejhg.2013.222
By:
- Graul-Neumann, Luitgard M;
- Deichsel, Alexandra;
- Wille, Ulrike;
- Kakar, Naseebullah;
- Koll, Randi;
- Bassir, Christian;
- Ahmad, Jamil;
- Cormier-Daire, Valerie;
- Mundlos, Stefan;
- Kubisch, Christian;
- Borck, Guntram;
- Klopocki, Eva;
- Mueller, Thomas D;
- Doelken, Sandra C;
- Seemann, Petra
Publication type:
Article
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
Published in:
Breast Cancer Research & Treatment, 2012, v. 134, n. 3, p. 1229, doi. 10.1007/s10549-012-2050-4
By:
- Heidemann, Simone;
- Fischer, Christine;
- Engel, Christoph;
- Fischer, Barbara;
- Harder, Lana;
- Schlegelberger, Brigitte;
- Niederacher, Dieter;
- Goecke, Timm;
- Doelken, Sandra;
- Dikow, Nicola;
- Jonat, Walter;
- Morlot, Susanne;
- Schmutzler, Rita;
- Arnold, Norbert
Publication type:
Article
No evidence for simian virus 40 DNA sequences in malignant non-Hodgkin lymphomas.
Published in:
International Journal of Cancer, 2006, v. 118, n. 2, p. 498, doi. 10.1002/ijc.21346
By:
- Schüler, Frank;
- Dölken, Sandra C.;
- Hirt, Carsten;
- Dölken, Marc T.;
- Mentel, Renate;
- Gürtler, Lutz G.;
- Dölken, Gottfried
Publication type:
Article
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Published in:
Science Translational Medicine, 2014, v. 6, n. 252, p. 1, doi. 10.1126/scitranslmed.3009262
By:
- Zemojtel, Tomasz;
- Köhler, Sebastian;
- Mackenroth, Luisa;
- Jäger, Marten;
- Hecht, Jochen;
- Krawitz, Peter;
- Graul-Neumann, Luitgard;
- Doelken, Sandra;
- Ehmke, Nadja;
- Spielmann, Malte;
- Øien, Nancy Christine;
- Schweiger, Michal R.;
- Krüger, Ulrike;
- Frommer, Götz;
- Fischer, Björn;
- Kornak, Uwe;
- Flöttmann, Ricarda;
- Ardeshirdavani, Amin;
- Moreau, Yves;
- Lewis, Suzanna E.
Publication type:
Article
A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2.
Published in:
PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003846
By:
- Degenkolbe, Elisa;
- König, Jana;
- Zimmer, Julia;
- Walther, Maria;
- Reißner, Carsten;
- Nickel, Joachim;
- Plöger, Frank;
- Raspopovic, Jelena;
- Sharpe, James;
- Dathe, Katarina;
- Hecht, Jacqueline T.;
- Mundlos, Stefan;
- Doelken, Sandra C.;
- Seemann, Petra
Publication type:
Article
Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 661, doi. 10.1002/humu.22293
By:
- Oetting, William S.;
- Robinson, Peter N.;
- Greenblatt, Marc S.;
- Cotton, Richard G.;
- Beck, Tim;
- Carey, John C.;
- Doelken, Sandra C.;
- Girdea, Marta;
- Groza, Tudor;
- Hamilton, Carol M.;
- Hamosh, Ada;
- Kerner, Berit;
- MacArthur, Jacqueline A. L.;
- Maglott, Donna R.;
- Mons, Barend;
- Rehm, Heidi L.;
- Schofield, Paul N.;
- Searle, Beverly A.;
- Smedley, Damian;
- Smith, Cynthia L.
Publication type:
Article
Ontological phenotype standards for neurogenetics.
Published in:
Human Mutation, 2012, v. 33, n. 9, p. 1333, doi. 10.1002/humu.22112
By:
- Köhler, Sebastian;
- Doelken, Sandra C.;
- Rath, Ana;
- Aymé, Ségolène;
- Robinson, Peter N.
Publication type:
Article

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