smf886 smf886

smf886 smf886

Postdoc


Publication year:
  1. 2019
  2. Published

    Haploinsufficiency of ARHGAP42 is associated with hypertension. / Fjorder, Amanda S.; Rasmussen, Malene B.; Mehrjouy, Mana M.; Nazaryan-Petersen, Lusine; Hansen, Claus; Bak, Mads; Grarup, Niels; Nørremølle, Anne; Larsen, Lars A.; Vestergaard, Henrik; Hansen, Torben; Tommerup, Niels; Bache, Iben.

    In: European Journal of Human Genetics, Vol. 27, No. 8, 2019, p. 1296-1303.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. E-pub ahead of print

    Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. / 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.

    In: Human Mutation, 2019.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Accepted/In press

    Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. / Midro, Alina T.; Tommerup, Niels; Borys, Jan; Panasiuk, Barbara; Kosztyła-Hojna, Bożena; Zalewska, Renata; Konstantynowicz, Jerzy; Łebkowska, Urszula; Cooper, Lance; Scherer, Steven E.; Mehrjouy, Manna M.; Liu, Qian; Skowroński, Rafał; Stankiewicz, Paweł.

    In: Clinical Genetics, Vol. 95, No. 4, 2019, p. 534-536.

    Research output: Contribution to journalLetterResearchpeer-review

  5. 2018
  6. Published
  7. Published

    Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes. / Luukkonen, Tiia Maria; Mehrjouy, Mana M; Pöyhönen, Minna; Anttonen, Anna-Kaisa; Lahermo, Päivi; Ellonen, Pekka; Paulin, Lars; Tommerup, Niels; Palotie, Aarno; Varilo, Teppo.

    In: Molecular genetics & genomic medicine, Vol. 6, No. 1, 2018, p. 56-68.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement. / Aristidou, Constantia; Theodosiou, Athina; Ketoni, Andria; Bak, Mads; Mehrjouy, Mana M.; Tommerup, Niels; Sismani, Carolina.

    In: Molecular Cytogenetics, Vol. 11, 34, 2018.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    De novo unbalanced translocations have a complex history/aetiology. / Bonaglia, Maria Clara; Kurtas, Nehir Edibe; Errichiello, Edoardo; Bertuzzo, Sara; Beri, Silvana; Mehrjouy, Mana M.; Provenzano, Aldesia; Vergani, Debora; Pecile, Vanna; Novara, Francesca; Reho, Paolo; Di Giacomo, Marilena Carmela; Discepoli, Giancarlo; Giorda, Roberto; Aldred, Micheala A.; Santos-Rebouças, Cíntia Barros; Goncalves, Andressa Pereira; Abuelo, Diane N.; Giglio, Sabrina; Ricca, Ivana; Franchi, Fabrizia; Patsalis, Philippos; Sismani, Carolina; Morí, María Angeles; Nevado, Julián; Tommerup, Niels; Zuffardi, Orsetta.

    In: Human Genetics, Vol. 137, No. 10, 2018, p. 817-829.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. / Aristidou, Constantia; Theodosiou, Athina; Bak, Mads; Mehrjouy, Mana M.; Constantinou, Efthymia; Alexandrou, Angelos; Papaevripidou, Ioannis; Christophidou-Anastasiadou, Violetta; Skordis, Nicos; Kitsiou-Tzeli, Sophia; Tommerup, Niels; Sismani, Carolina.

    In: PLOS ONE, Vol. 13, No. 10, e0205298, 2018.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Regulatory variants of FOXG1 in the context of its topological domain organisation. / Mehrjouy, Mana M; Fonseca, Ana Carolina S; Ehmke, Nadja; Paskulin, Giorgio; Novelli, Antonio; Benedicenti, Francesco; Mencarelli, Maria Antonietta; Renieri, Alessandra; Busa, Tiffany; Missirian, Chantal; Hansen, Claus; Abe, Kikue Terada; Speck-Martins, Carlos Eduardo; Vianna-Morgante, Angela M; Bak, Mads; Tommerup, Niels.

    In: European Journal of Human Genetics, Vol. 26, No. 2, 2018, p. 186–196.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. / Halgren, Christina; Nielsen, Nete M.; Nazaryan-Petersen, Lusine; Silahtaroglu, Asli; Collins, Ryan L.; Lowther, Chelsea; Kjaergaard, Susanne; Frisch, Morten; Kirchhoff, Maria; Brøndum-Nielsen, Karen; Lind-Thomsen, Allan; Mang, Yuan; El-Schich, Zahra; Boring, Claire A.; Mehrjouy, Mana M.; Jensen, Peter K.A.; Fagerberg, Christina; Krogh, Lotte N.; Hansen, Jan; Bryndorf, Thue; Hansen, Claus; Talkowski, Michael E.; Bak, Mads; Tommerup, Niels; Bache, Iben.

    In: American Journal of Human Genetics, Vol. 102, No. 6, 2018, p. 1090-1103.

    Research output: Contribution to journalJournal articleResearchpeer-review

Previous 1 2 3 Next

ID: 67566475