المؤلفون: Fatima, Ambrin, Abdullah, Uzma, Farooq, Muhammad, Ali, Zafar, Mang, Yuan, Mehrjouy, Mana M., Tommerup, Niels, Baig, Shahid M.

المصدر: Fatima , A , Abdullah , U , Farooq , M , Ali , Z , Mang , Y , Mehrjouy , M M , Tommerup , N & Baig , S M 2022 , ' Rare pathogenic variants in genes of glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families ' , European Journal of Human Genetics , vol. 30 , no. SUPPL 1 , P09.052.A , pp. 276-276 . https://doi.org/10.1038/s41431-021-01026-1Test

الإتاحة: https://doi.org/10.1038/s41431-021-01026-1Test
https://curis.ku.dk/portal/da/publications/rare-pathogenic-variants-in-genes-of-glutamatergic-neurotransmission-pathway-segregate-with-schizophrenia-in-pakistani-familiesTest(a9609017-91e4-406d-9756-42b38a4291a6).html

المؤلفون: Lowther, Chelsea, Mehrjouy, Mana M, Collins, Ryan L, Bak, Mads C, Dudchenko, Olga, Brand, Harrison, Dong, Zirui, Rasmussen, Malene B, Gu, Huiya, Weisz, David, Nazaryan-Petersen, Lusine, Fjorder, Amanda S, Mang, Yuan, Lind-Thomsen, Allan, Mendez, Juan M M, Calle, Xabier, Chopra, Anuja, Hansen, Claus, Bugge, Merete, Broekema, Roeland V, Varilo, Teppo, Luukkonen, Tiia, Engelen, John, Vianna-Morgante, Angela M, Fonseca, Ana Carolina S, Mazzeu, Juliana F, Dornelles-Wawruk, Halinna, Abe, Kikue T, Vermeesch, Joris R, Van Den Bogaert, Kris, Schinzel, Albert

المصدر: Lowther, Chelsea; Mehrjouy, Mana M; Collins, Ryan L; Bak, Mads C; Dudchenko, Olga; Brand, Harrison; Dong, Zirui; Rasmussen, Malene B; Gu, Huiya; Weisz, David; Nazaryan-Petersen, Lusine; Fjorder, Amanda S; Mang, Yuan; Lind-Thomsen, Allan; Mendez, Juan M M; Calle, Xabier; Chopra, Anuja; Hansen, Claus; Bugge, Merete; Broekema, Roeland V; Varilo, Teppo; Luukkonen, Tiia; Engelen, John; Vianna-Morgante, Angela M; Fonseca, Ana Carolina S; Mazzeu, Juliana F; Dornelles-Wawruk, Halinna; Abe, Kikue T; Vermeesch, Joris R; Van Den Bogaert, Kris; Schinzel, Albert; et al (2022). Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders. medRxiv 22270795, Cold ....

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/232581/1/2022.02.15.22270795v1.full.pdfTest; urn:issn:0959-535X

الإتاحة: https://doi.org/10.5167/uzh-23258110.1101/2022.02.15.22270795Test
https://www.zora.uzh.ch/id/eprint/232581Test/
https://www.zora.uzh.ch/id/eprint/232581/1/2022.02.15.22270795v1.full.pdfTest

المؤلفون: Fatima, Ambrin, Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Mehrjouy, Mana M., Asif, Maria, Ali, Zafar, Tommerup, Niels, Baig, Shahid M.

المصدر: Fatima , A , Abdullah , U , Farooq , M , Mang , Y , Mehrjouy , M M , Asif , M , Ali , Z , Tommerup , N & Baig , S M 2021 , ' Article rare pathogenic variants in genes implicated in glutamatergic neurotransmission pathway segregate with schizophrenia in pakistani families ' , Genes , vol. 12 , no. 12 , 1899 . https://doi.org/10.3390/genes12121899Test

مصطلحات موضوعية: Duplication, Familial schizophrenia, Glutamatergic neurotransmission, Rare variants

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3390/genes12121899Test
https://curis.ku.dk/portal/da/publications/article-rare-pathogenic-variants-in-genes-implicated-in-glutamatergic-neurotransmission-pathway-segregate-with-schizophrenia-in-pakistani-familiesTest(7e4d050f-0214-4209-a63c-a0b9c1210da4).html
https://curis.ku.dk/ws/files/286512669/genes_12_01899.pdfTest

المؤلفون: Byrjalsen, Anna, Hansen, Thomas V O, Stoltze, Ulrik K, Mehrjouy, Mana M, Barnkob, Nanna Moeller, Hjalgrim, Lisa L, Mathiasen, René, Lautrup, Charlotte K, Gregersen, Pernille A, Hasle, Henrik, Wehner, Peder S, Tuckuviene, Ruta, Sackett, Peter Wad, Laspiur, Adrian O, Rossing, Maria, Marvig, Rasmus L, Tommerup, Niels, Olsen, Tina Elisabeth, Scheie, David, Gupta, Ramneek, Gerdes, Anne-Marie, Schmiegelow, Kjeld, Wadt, Karin

المصدر: Byrjalsen , A , Hansen , T V O , Stoltze , U K , Mehrjouy , M M , Barnkob , N M , Hjalgrim , L L , Mathiasen , R , Lautrup , C K , Gregersen , P A , Hasle , H , Wehner , P S , Tuckuviene , R , Sackett , P W , Laspiur , A O , Rossing , M , Marvig , R L , Tommerup , N , Olsen , T E , Scheie , D , Gupta , R , Gerdes , A-M , Schmiegelow , ....

الإتاحة: https://doi.org/10.1371/journal.pgen.1009231Test
https://pure.au.dk/portal/da/publications/nationwide-germline-whole-genome-sequencing-of-198-consecutive-pediatric-cancer-patients-reveals-a-high-incidence-of-cancer-prone-syndromesTest(88d75fd9-0bbb-4393-90e2-17a35762f61e).html

المؤلفون: Bache, Iben, Wadt, Karin, Mehrjouy, Mana M., Rossing, Maria, Østrup, Olga, Byrjalsen, Anna, Tommerup, Niels, Metzner, Marlen, Vyas, Paresh, Schmiegelow, Kjeld, Lausen, Birgitte, Andersen, Mette K.

المصدر: Bache , I , Wadt , K , Mehrjouy , M M , Rossing , M , Østrup , O , Byrjalsen , A , Tommerup , N , Metzner , M , Vyas , P , Schmiegelow , K , Lausen , B & Andersen , M K 2020 , ' A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome ' , Blood Cancer Journal , vol. 10 , no. 3 , 27 . https://doi.org/10.1038/s41408-020-0293-6Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41408-020-0293-6Test
https://curis.ku.dk/portal/da/publications/a-shared-somatic-translocation-involving-cux1-in-monozygotic-twins-as-an-early-driver-of-amkl-in-down-syndromeTest(b6d46f56-0b99-46f3-a866-1f500e4a97bc).html
https://curis.ku.dk/ws/files/237666301/s41408_020_0293_6.pdfTest

المؤلفون: 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

المصدر: Fjorder , A S , Rasmussen , M B , Mehrjouy , M M , Nazaryan-Petersen , L , Hansen , C , Bak , M , Grarup , N , Nørremølle , A , Larsen , L A , Vestergaard , H , Hansen , T , Tommerup , N & Bache , I 2019 , ' Haploinsufficiency of ARHGAP42 is associated with hypertension ' , European Journal of Human Genetics , vol. 27 , no. 8 , pp. 1296-1303 . https://doi.org/10.1038/s41431-019-0382-9Test

الإتاحة: https://doi.org/10.1038/s41431-019-0382-9Test
https://curis.ku.dk/portal/da/publications/haploinsufficiency-of-arhgap42-is-associated-with-hypertensionTest(6e8c6baf-d0ef-485e-b4d4-ab5f023d54a8).html
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777610/pdf/41431_2019_Article_382.pdfTest

المؤلفون: 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

المصدر: Nazaryan-Petersen , L , Oliveira , I R , Mehrjouy , M M , Mendez , J M M , Bak , M , Bugge , M , Kalscheuer , V M , Bache , I , Hancks , D C & Tommerup , N 2019 , ' Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome ' , Human Mutation , vol. 40 , no. 8 , pp. 1057-1062 . https://doi.org/10.1002/humu.23775Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/humu.23775Test
https://curis.ku.dk/portal/da/publications/multigenic-truncation-of-the-semaphorinplexin-pathway-by-a-germline-chromothriptic-rearrangement-associated-with-moebius-syndromeTest(29c18150-e230-4061-9cd8-167edf01a058).html
https://curis.ku.dk/ws/files/250864060/Multigenic_truncation_of_the_semaphorin_plexin_pathway_by_a.pdfTest

المؤلفون: Mehrjouy, Mana M., Bak, Mads, Lupianez, Dario G., Heinrich, Verena, Vermeesch, Joris, Schinzel, Albert, Schonewolf-Greulich, Bitten, Bache, Iben, Mundlos, Stefan, Tommerup, Niels

المصدر: Mehrjouy , M M , Bak , M , Lupianez , D G , Heinrich , V , Vermeesch , J , Schinzel , A , Schonewolf-Greulich , B , Bache , I , Mundlos , S & Tommerup , N 2017 , ' Enhancer swapping dual loss and gains of enhancers by balanced translocations and inversions between highly conserved regulatory domains ' , Molecular Cytogenetics , vol. 10 , no. S1 , pp. 68 . https://doi.org/10.1186/S13039-017-0319-3Test

الإتاحة: https://doi.org/10.1186/S13039-017-0319-3Test
https://curis.ku.dk/portal/da/publications/enhancer-swapping-dual-loss-and-gains-of-enhancers-by-balanced-translocations-and-inversions-between-highly-conserved-regulatory-domainsTest(9240b6d2-a3a9-4e92-8c00-a71776674fc5).html

المؤلفون: Luukkonen, Tiia Maria, Mehrjouy, Mana M., Pöyhönen, Minna, Anttonen, Anna-Kaisa, Lahermo, Päivi, Ellonen, Pekka, Paulin, Lars, Tommerup, Niels, Palotie, Aarno, Varilo, Teppo

المساهمون: Institute for Molecular Medicine Finland, University of Helsinki, Medicum, Department of Medical and Clinical Genetics, Clinicum, HUSLAB, Institute of Biotechnology, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: 3111 Biomedicine, 1182 Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: Luukkonen , T M , Mehrjouy , M M , Pöyhönen , M , Anttonen , A-K , Lahermo , P , Ellonen , P , Paulin , L , Tommerup , N , Palotie , A & Varilo , T 2018 , ' Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes ' , Molecular Genetics & Genomic Medicine , vol. 6 , no. 1 , pp. 56-68 . https://doi.org/10.1002/mgg3.346Test; ORCID: /0000-0003-2037-2744/work/46650052; ORCID: /0000-0002-5839-8854/work/43955693; ORCID: /0000-0001-6072-0489/work/52863072; ORCID: /0000-0002-2527-5874/work/97266209; 85042375311; a638101d-4fbe-4265-8ed8-c5642ebda3d2; http://hdl.handle.net/10138/234402Test; 000426075800007

الإتاحة: http://hdl.handle.net/10138/234402Test

المؤلفون: 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

المصدر: Halgren , C , Nielsen , N M , Nazaryan-Petersen , L , Silahtaroglu , A , Collins , R L , Lowther , C , Kjaergaard , S , Frisch , M , Kirchhoff , M , Brøndum-Nielsen , K , Lind-Thomsen , A , Mang , Y , El-Schich , Z , Boring , C A , Mehrjouy , M M , Jensen , P K A , Fagerberg , C , Krogh , L N , Hansen , J , Bryndorf , T , Hansen , C , Talkowski , M E , Bak , M ....

مصطلحات موضوعية: balanced chromosomal rearrangement, clinical recommendations, de novo, inversion, long-term follow-up, mate-pair mapping, morbidity risk, neurodevelopmental/-psychiatric disorders, prenatal diagnosis, reciprocal translocation

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.005Test
https://pure.au.dk/portal/da/publications/risks-and-recommendations-in-prenatally-detected-de-novo-balanced-chromosomal-rearrangements-from-assessment-of-longterm-outcomesTest(3ac989e6-79b4-422c-ae3c-b9533476dd29).html
http://www.scopus.com/inward/record.url?scp=85047187634&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992120/pdf/main.pdfTest