Mana M Mehrjouy
Mana M Mehrjouy
Mehrjouy MM
Bekræftet mail på sund.ku.dk
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A germline chromothripsis event stably segregating in 11 individuals through three generations
B Bertelsen, L Nazaryan-Petersen, W Sun, MM Mehrjouy, G Xie, W Chen, ...
Genetics in Medicine 18 (5), 494-500, 2016
392016
Shaping the landscape of the Escherichia coli chromosome: replication-transcription encounters in cells with an ectopic replication origin
D Ivanova, T Taylor, SL Smith, JU Dimude, AL Upton, MM Mehrjouy, ...
Nucleic acids research 43 (16), 7865-7877, 2015
372015
Accurate breakpoint mapping in apparently balanced translocation families with discordant phenotypes using whole genome mate-pair sequencing
C Aristidou, C Koufaris, A Theodosiou, M Bak, MM Mehrjouy, F Behjati, ...
PloS one 12 (1), e0169935, 2017
252017
Risks and recommendations in prenatally detected de novo balanced chromosomal rearrangements from assessment of long-term outcomes
C Halgren, NM Nielsen, L Nazaryan-Petersen, A Silahtaroglu, RL Collins, ...
The American Journal of Human Genetics 102 (6), 1090-1103, 2018
192018
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
Z Slamova, L Nazaryan‐Petersen, MM Mehrjouy, J Drabova, ...
Human mutation 39 (5), 709-716, 2018
172018
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
G Rudolf, G Lesca, MM Mehrjouy, A Labalme, M Salmi, I Bache, ...
European Journal of Human Genetics 24 (12), 1761-1770, 2016
152016
De novo unbalanced translocations have a complex history/aetiology
MC Bonaglia, NE Kurtas, E Errichiello, S Bertuzzo, S Beri, MM Mehrjouy, ...
Human Genetics 137 (10), 817-829, 2018
122018
Partial USH2A deletions contribute to Usher syndrome in Denmark
S Dad, ND Rendtorff, E Kann, A Albrechtsen, MM Mehrjouy, M Bak, ...
European Journal of Human Genetics 23 (12), 1646-1651, 2015
122015
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
C Aristidou, A Theodosiou, M Bak, MM Mehrjouy, E Constantinou, ...
PloS one 13 (10), e0205298, 2018
112018
Regulatory variants of FOXG1 in the context of its topological domain organisation
MM Mehrjouy, ACS Fonseca, N Ehmke, G Paskulin, A Novelli, ...
European Journal of Human Genetics 26 (2), 186-196, 2018
112018
Prenatal screening for aneuploidies using QF-PCR and karyotyping: A comprehensive study in Iranian population
P Rostami, S Valizadegan, M Ghalandary, MM Mehrjouy, GE Nia, ...
Archives of Iranian medicine 18 (5), 0-0, 2015
102015
Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement
C Aristidou, A Theodosiou, A Ketoni, M Bak, MM Mehrjouy, N Tommerup, ...
Molecular Cytogenetics 11 (1), 1-8, 2018
72018
Breakpoint mapping and haplotype analysis of translocation t (1; 12)(q43; q21. 1) in two apparently independent families with vascular phenotypes
TM Luukkonen, MM Mehrjouy, M Pöyhönen, AK Anttonen, P Lahermo, ...
Molecular genetics & genomic medicine 6 (1), 56-68, 2018
52018
Haploinsufficiency of ARHGAP42 is associated with hypertension
AS Fjorder, MB Rasmussen, MM Mehrjouy, L Nazaryan-Petersen, ...
European Journal of Human Genetics 27 (8), 1296-1303, 2019
42019
Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencing
JM Łopacińska-Jørgensen, JN Pedersen, M Bak, MM Mehrjouy, ...
Scientific reports 7 (1), 1-10, 2017
32017
Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome
L Nazaryan‐Petersen, IR Oliveira, MM Mehrjouy, JMM Mendez, M Bak, ...
Human mutation 40 (8), 1057-1062, 2019
22019
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome
I Bache, K Wadt, MM Mehrjouy, M Rossing, O Østrup, A Byrjalsen, ...
Blood cancer journal 10 (3), 1-4, 2020
12020
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes
A Byrjalsen, TVO Hansen, UK Stoltze, MM Mehrjouy, NM Barnkob, ...
PLoS genetics 16 (12), e1009231, 2020
2020
Nationwide Germline Whole Genome Sequencing of 198 Consecutive Pediatric Cancer Patients Reveals a High Incidence of Cancer Prone Syndromes
A Byrjalsen, T Hansen, U Stoltze, M Mehrjouy, N Barnkob, L Hjalgrim, ...
Pediatric Blood & Cancer 67 (Suppl. 4), S323, 2020
2020
Multigenic involvement of the semaphorin-plexin pathway in Moebius syndrome by a germline chromothriptic rearrangement
L Nazaryan-Petersen, I Rodrigues de Oliveira, MM Mehrjouy, JM Mendez, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1481-1481, 2019
2019
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Artikler 1–20