OpenURL Connection Search

Select item for more details and to access through your institution.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Published in:
PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007780
By:
- Nazaryan-Petersen, Lusine;
- Eisfeldt, Jesper;
- Pettersson, Maria;
- Lundin, Johanna;
- Nilsson, Daniel;
- Wincent, Josephine;
- Lieden, Agne;
- Lovmar, Lovisa;
- Ottosson, Jesper;
- Gacic, Jelena;
- Mäkitie, Outi;
- Nordgren, Ann;
- Vezzi, Francesco;
- Wirta, Valtteri;
- Käller, Max;
- Hjortshøj, Tina Duelund;
- Jespersgaard, Cathrine;
- Houssari, Rayan;
- Pignata, Laura;
- Bak, Mads
Publication type:
Article
Chromothripsis and DNA Repair Disorders.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 613, doi. 10.3390/jcm9030613
By:
- Nazaryan-Petersen, Lusine;
- Bjerregaard, Victoria Alexandra;
- Nielsen, Finn Cilius;
- Tommerup, Niels;
- Tümer, Zeynep
Publication type:
Article
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-18040-y
By:
- Rendtorff, Nanna Dahl;
- Karstensen, Helena Gásdal;
- Lodahl, Marianne;
- Tolmie, John;
- McWilliam, Catherine;
- Bak, Mads;
- Tommerup, Niels;
- Nazaryan-Petersen, Lusine;
- Kunst, Henricus;
- Wong, Melanie;
- Joss, Shelagh;
- Carelli, Valerio;
- Tranebjærg, Lisbeth
Publication type:
Article
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.906328
By:
- Mørup, Sara Bohnstedt;
- Nazaryan-Petersen, Lusine;
- Gabrielaite, Migle;
- Reekie, Joanne;
- Marquart, Hanne V.;
- Hartling, Hans Jakob;
- Marvig, Rasmus L.;
- Katzenstein, Terese L.;
- Masmas, Tania N.;
- Lundgren, Jens;
- Murray, Daniel D.;
- Helleberg, Marie;
- Borgwardt, Line
Publication type:
Article
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.906328
By:
- Mørup, Sara Bohnstedt;
- Nazaryan-Petersen, Lusine;
- Gabrielaite, Migle;
- Reekie, Joanne;
- Marquart, Hanne V.;
- Hartling, Hans Jakob;
- Marvig, Rasmus L.;
- Katzenstein, Terese L.;
- Masmas, Tania N.;
- Lundgren, Jens;
- Murray, Daniel D.;
- Helleberg, Marie;
- Borgwardt, Line
Publication type:
Article
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 3, p. 338, doi. 10.1038/ejhg.2013.147
By:
- Nazaryan, Lusine;
- Stefanou, Eunice G;
- Hansen, Claus;
- Kosyakova, Nadezda;
- Bak, Mads;
- Sharkey, Freddie H;
- Mantziou, Theodora;
- Papanastasiou, Anastasios D;
- Velissariou, Voula;
- Liehr, Thomas;
- Syrrou, Maria;
- Tommerup, Niels
Publication type:
Article
A novel DOCK2 variant in siblings with severe combined immunodeficiency.
Published in:
Scandinavian Journal of Immunology, 2023, v. 97, n. 3, p. 1, doi. 10.1111/sji.13243
By:
- Bruusgaard‐Mouritsen, Maria Anna;
- Masmas, Tania;
- Borgwardt, Line;
- Nazaryan‐Petersen, Lusine;
- Heilmann, Carsten;
- Madsen, Hans O.;
- Vibeke Marquart, Hanne
Publication type:
Article
Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1057, doi. 10.1002/humu.23775
By:
- Nazaryan‐Petersen, Lusine;
- Oliveira, Inês R.;
- Mehrjouy, Mana M.;
- Mendez, Juan M. M.;
- Bak, Mads;
- Bugge, Merete;
- Kalscheuer, Vera M.;
- Bache, Iben;
- Hancks, Dustin C.;
- Tommerup, Niels
Publication type:
Article
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Published in:
Human Mutation, 2019, v. 40, n. 2, p. 193, doi. 10.1002/humu.23683
By:
- Kurtas, Nehir Edibe;
- Xumerle, Luciano;
- Leonardelli, Lorena;
- Delledonne, Massimo;
- Brusco, Alfredo;
- Chrzanowska, Krystyna;
- Schinzel, Albert;
- Larizza, Daniela;
- Guerneri, Silvana;
- Natacci, Federica;
- Bonaglia, Maria Clara;
- Reho, Paolo;
- Manolakos, Emmanouil;
- Mattina, Teresa;
- Soli, Fiorenza;
- Provenzano, Aldesia;
- Al‐Rikabi, Ahmed H.;
- Errichiello, Edoardo;
- Nazaryan‐Petersen, Lusine;
- Giglio, Sabrina
Publication type:
Article
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.
Published in:
Human Mutation, 2018, v. 39, n. 5, p. 709, doi. 10.1002/humu.23408
By:
- Slamova, Zuzana;
- Nazaryan‐Petersen, Lusine;
- Mehrjouy, Mana M.;
- Drabova, Jana;
- Hancarova, Miroslava;
- Marikova, Tatana;
- Novotna, Drahuse;
- Vlckova, Marketa;
- Vlckova, Zdenka;
- Bak, Mads;
- Zemanova, Zuzana;
- Tommerup, Niels;
- Sedlacek, Zdenek
Publication type:
Article
Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 385, doi. 10.1002/humu.22953
By:
- Nazaryan‐Petersen, Lusine;
- Bertelsen, Birgitte;
- Bak, Mads;
- Jønson, Lars;
- Tommerup, Niels;
- Hancks, Dustin C;
- Tümer, Zeynep
Publication type:
Article
THE IMPACT OF AGE AND EDUCATION ON SELF-MEDICATION OF COMMON COLD AND COUGH - AN ARMENIAN EXPERIENCE.
Published in:
Farmacia, 2023, v. 71, n. 3, p. 617, doi. 10.31925/farmacia.2023.3.21
By:
- BARSEGHYAN, ANUSH;
- NAZARYAN, LUSINE;
- SIMONYAN, MARTA
Publication type:
Article
Evaluating consumer self-medication practices, pharmaceutical care services, and pharmacy selection: a quantitative study.
Published in:
BMC Health Services Research, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12913-023-10471-1
By:
- Nazaryan, Lusine;
- Barseghyan, Anush;
- Rayisyan, Maria;
- Beglaryan, Margarit;
- Simonyan, Marta
Publication type:
Article

Found: 13