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Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
By:
- Trinh, Joanne;
- Lüth, Theresa;
- Schaake, Susen;
- Laabs, Björn-Hergen;
- Schlüter, Kathleen;
- Laβ, Joshua;
- Pozojevic, Jelena;
- Tse, Ronnie;
- König, Inke;
- Jamora, Roland Dominic;
- Rosales, Raymond L;
- Brüggemann, Norbert;
- Saranza, Gerard;
- Diesta, Cid Czarina E;
- Kaiser, Frank J;
- Depienne, Christel;
- Pearson, Christopher E;
- Westenberger, Ana;
- Klein, Christine
Publication type:
Article
Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2231, doi. 10.3390/ijms23042231
By:
- Pozojevic, Jelena;
- Algodon, Shela Marie;
- Cruz, Joseph Neos;
- Trinh, Joanne;
- Brüggemann, Norbert;
- Laß, Joshua;
- Grütz, Karen;
- Schaake, Susen;
- Tse, Ronnie;
- Yumiceba, Veronica;
- Kruse, Nathalie;
- Schulz, Kristin;
- Sreenivasan, Varun K. A.;
- Rosales, Raymond L.;
- Jamora, Roland Dominic G.;
- Diesta, Cid Czarina E.;
- Matschke, Jakob;
- Glatzel, Markus;
- Seibler, Philip;
- Händler, Kristian
Publication type:
Article
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Published in:
BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/8742939
By:
- Teresa-Rodrigo, María E.;
- Eckhold, Juliane;
- Puisac, Beatriz;
- Pozojevic, Jelena;
- Parenti, Ilaria;
- Baquero-Montoya, Carolina;
- Gil-Rodríguez, María C.;
- Braunholz, Diana;
- Dalski, Andreas;
- Hernández-Marcos, María;
- Ayerza, Ariadna;
- Bernal, María L.;
- Ramos, Feliciano J.;
- Wieczorek, Dagmar;
- Gillessen-Kaesbach, Gabriele;
- Pié, Juan;
- Kaiser, Frank J.
Publication type:
Article
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23491-4
By:
- Laabs, Björn-Hergen;
- Klein, Christine;
- Pozojevic, Jelena;
- Domingo, Aloysius;
- Brüggemann, Norbert;
- Grütz, Karen;
- Rosales, Raymond L.;
- Jamora, Roland Dominic;
- Saranza, Gerard;
- Diesta, Cid Czarina E.;
- Wittig, Michael;
- Schaake, Susen;
- Dulovic-Mahlow, Marija;
- Quismundo, Jana;
- Otto, Pia;
- Acuna, Patrick;
- Go, Criscely;
- Sharma, Nutan;
- Multhaupt-Buell, Trisha;
- Müller, Ulrich
Publication type:
Article
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
Published in:
PLoS Genetics, 2017, v. 13, n. 12, p. 1, doi. 10.1371/journal.pgen.1007137
By:
- Zuin, Jessica;
- Casa, Valentina;
- Pozojevic, Jelena;
- Kolovos, Petros;
- van den Hout, Mirjam C. G. N.;
- van Ijcken, Wilfred F. J.;
- Parenti, Ilaria;
- Braunholz, Diana;
- Baron, Yorann;
- Watrin, Erwan;
- Kaiser, Frank J.;
- Wendt, Kerstin S.
Publication type:
Article
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Published in:
Human Genetics, 2017, v. 136, n. 3, p. 307, doi. 10.1007/s00439-017-1758-y
By:
- Parenti, Ilaria;
- Teresa-Rodrigo, María;
- Pozojevic, Jelena;
- Ruiz Gil, Sara;
- Bader, Ingrid;
- Braunholz, Diana;
- Bramswig, Nuria;
- Gervasini, Cristina;
- Larizza, Lidia;
- Pfeiffer, Lutz;
- Ozkinay, Ferda;
- Ramos, Feliciano;
- Reiz, Benedikt;
- Rittinger, Olaf;
- Strom, Tim;
- Watrin, Erwan;
- Wendt, Kerstin;
- Wieczorek, Dagmar;
- Wollnik, Bernd;
- Baquero-Montoya, Carolina
Publication type:
Article
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Published in:
Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8
By:
- Bramswig, Nuria;
- Lüdecke, Hermann-Josef;
- Alanay, Yasemin;
- Albrecht, Beate;
- Barthelmie, Alexander;
- Boduroglu, Koray;
- Braunholz, Diana;
- Caliebe, Almuth;
- Chrzanowska, Krystyna;
- Czeschik, Johanna;
- Endele, Sabine;
- Graf, Elisabeth;
- Guillén-Navarro, Encarna;
- Kiper, Pelin;
- López-González, Vanesa;
- Parenti, Ilaria;
- Pozojevic, Jelena;
- Utine, Gulen;
- Wieland, Thomas;
- Kaiser, Frank
Publication type:
Article
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65439-w
By:
- Pozojevic, Jelena;
- Sivaprasad, Radhika;
- Laß, Joshua;
- Haarich, Franziska;
- Trinh, Joanne;
- Kakar, Naseebullah;
- Schulz, Kristin;
- Händler, Kristian;
- Verrijn Stuart, Annemarie A.;
- Giltay, Jacques C.;
- van Gassen, Koen L.;
- Caliebe, Almuth;
- Holterhus, Paul-Martin;
- Spielmann, Malte;
- Hornig, Nadine C.
Publication type:
Article
Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism.
Published in:
Medizinische Genetik, 2022, v. 34, n. 2, p. 97, doi. 10.1515/medgen-2022-2135
By:
- Pozojevic, Jelena;
- von Holt, Björn-Hergen;
- Westenberger, Ana
Publication type:
Article
X-linked dystonia-parkinsonism: over and above a repeat disorder.
Published in:
Medizinische Genetik, 2021, v. 33, n. 4, p. 319, doi. 10.1515/medgen-2021-2105
By:
- Pozojevic, Jelena;
- Cruz, Joseph Neos;
- Westenberger, Ana
Publication type:
Article
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 4, p. 565, doi. 10.1111/epi.13669
By:
- Symonds, Joseph D.;
- Joss, Shelagh;
- Metcalfe, Kay A.;
- Somarathi, Suresh;
- Cruden, Jamie;
- Devlin, Anita M.;
- Donaldson, Alan;
- DiDonato, Nataliya;
- Fitzpatrick, David;
- Kaiser, Frank J.;
- Lampe, Anne K.;
- Lees, Melissa M.;
- McLellan, Ailsa;
- Montgomery, Tara;
- Mundada, Vivek;
- Nairn, Lesley;
- Sarkar, Ajoy;
- Schallner, Jens;
- Pozojevic, Jelena;
- Parenti, Ilaria
Publication type:
Article
Single-Cell Sequencing in Neurodegenerative Disorders.
Published in:
Molecular Diagnosis & Therapy, 2023, v. 27, n. 5, p. 553, doi. 10.1007/s40291-023-00668-9
By:
- Pozojevic, Jelena;
- Spielmann, Malte
Publication type:
Article
First Case of Parkinsonian‐Pyramidal Syndrome Associated with a TBK1 Mutation.
Published in:
Movement Disorders, 2021, v. 36, n. 2, p. 523, doi. 10.1002/mds.28405
By:
- Santos‐García, Diego;
- Pozojevic, Jelena;
- Deus Fonticoba, Teresa;
- Kurtis, Mónica;
- Gamez, Josep;
- Klein, Christine;
- Monje, Mariana H.G.;
- Westenberger, Ana
Publication type:
Article
DNA Methylation as a Potential Molecular Mechanism in X‐linked Dystonia‐Parkinsonism.
Published in:
Movement Disorders, 2020, v. 35, n. 12, p. 2220, doi. 10.1002/mds.28239
By:
- Krause, Christin;
- Schaake, Susen;
- Grütz, Karen;
- Sievert, Helen;
- Reyes, Charles Jourdan;
- König, Inke R.;
- Laabs, Björn‐Hergen;
- Jamora, Roland Dominic;
- Rosales, Raymond L.;
- Diesta, Cid Czarina E.;
- Pozojevic, Jelena;
- Gemoll, Timo;
- Westenberger, Ana;
- Kaiser, Frank J.;
- Klein, Christine;
- Kirchner, Henriette
Publication type:
Article
Comparative single-cell analysis of the adult heart and coronary vasculature.
Published in:
Mammalian Genome, 2023, v. 34, n. 2, p. 276, doi. 10.1007/s00335-022-09968-7
By:
- Balachandran, Saranya;
- Pozojevic, Jelena;
- Sreenivasan, Varun K. A.;
- Spielmann, Malte
Publication type:
Article
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 279, doi. 10.1002/humu.22755
By:
- Braunholz, Diana;
- Obieglo, Carolin;
- Parenti, Ilaria;
- Pozojevic, Jelena;
- Eckhold, Juliane;
- Reiz, Benedikt;
- Brænne, Ingrid;
- Wendt, Kerstin S.;
- Watrin, Erwan;
- Vodopiutz, Julia;
- Rieder, Harald;
- Gillessen‐Kaesbach, Gabriele;
- Kaiser, Frank J.
Publication type:
Article
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics.
Published in:
Human Mutation, 2015, v. 36, n. 1, p. 26, doi. 10.1002/humu.22685
By:
- Braunholz, Diana;
- Obieglo, Carolin;
- Parenti, Ilaria;
- Pozojevic, Jelena;
- Eckhold, Juliane;
- Reiz, Benedikt;
- Brænne, Ingrid;
- Wendt, Kerstin S.;
- Watrin, Erwan;
- Vodopiutz, Julia;
- Rieder, Harald;
- Gillessen‐Kaesbach, Gabriele;
- Kaiser, Frank J.
Publication type:
Article
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Published in:
Genes, 2022, v. 13, n. 1, p. 126, doi. 10.3390/genes13010126
By:
- Lüth, Theresa;
- Laβ, Joshua;
- Schaake, Susen;
- Wohlers, Inken;
- Pozojevic, Jelena;
- Jamora, Roland Dominic G.;
- Rosales, Raymond L.;
- Brüggemann, Norbert;
- Saranza, Gerard;
- Diesta, Cid Czarina E.;
- Schlüter, Kathleen;
- Tse, Ronnie;
- Reyes, Charles Jourdan;
- Brand, Max;
- Busch, Hauke;
- Klein, Christine;
- Westenberger, Ana;
- Trinh, Joanne
Publication type:
Article
The importance of genetic testing for dystonia patients and translational research.
Published in:
Journal of Neural Transmission, 2021, v. 128, n. 4, p. 473, doi. 10.1007/s00702-021-02329-9
By:
- Pozojevic, Jelena;
- Beetz, Christian;
- Westenberger, Ana
Publication type:
Article

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