Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Jesper Graakjaer"'
Autor:
Helle Bogetofte, Pia Jensen, Justyna Okarmus, Sissel Ida Schmidt, Mikkel Agger, Matias Ryding, Peter Nørregaard, Christina Fenger, Xianmin Zeng, Jesper Graakjær, Brent James Ryan, Richard Wade-Martins, Martin Røssel Larsen, Morten Meyer
Publikováno v:
Neurobiology of Disease, Vol 132, Iss , Pp - (2019)
Mutations in parkin, encoded by the PARK2 gene, causes early-onset familial Parkinson's disease (PD), but dysfunctional parkin has also been implicated in sporadic PD. By combining human isogenic induced pluripotent stem cells (iPSCs) with and withou
Externí odkaz:
https://doaj.org/article/e98e9afd23534172af5a503933362700
Autor:
Lotte Hatt, Mads M Aagaard, Cathrine Bach, Jesper Graakjaer, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen
Publikováno v:
PLoS ONE, Vol 11, Iss 8, p e0160319 (2016)
Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape
Externí odkaz:
https://doaj.org/article/11acaa8328cd4a7793775c2bffe36fa5
Autor:
Lotte Hatt, Mads M Aagaard, Jesper Graakjaer, Cathrine Bach, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0128918 (2015)
Epigenetic markers for cell free fetal DNA in the maternal blood circulation are highly interesting in the field of non-invasive prenatal testing since such markers will offer a possibility to quantify the amount of fetal DNA derived from different c
Externí odkaz:
https://doaj.org/article/faa1741ddebd40e0b83acd641b05cba8
Autor:
Mathilde Nizon, Jessica Kianmahd, Rebecca Signer, Jesper Graakjaer, Fabiola Quintero-Rivera, Dea Svaneby, Julian A. Martinez-Agosto, Celeste Eno
Publikováno v:
American Journal of Medical Genetics Part A. 185:1519-1524
Three unrelated patients with similar microdeletions of chromosome 14q32.11 with shared phenotypes including language and developmental delay, and four overlapping genes -CALM1, TTC7B, PSMC1, and RPS6KA5 have been presented. All four genes are expres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5aada09560ccee5ab01b6b35b5bd194d
https://doi.org/10.1002/ajmg.a.62117
https://doi.org/10.1002/ajmg.a.62117
Publikováno v:
Bergmann, K, Gregersen, P A, Graakjær, J, Tareen, A & Sommerlund, M 2021, ' Incontinentia pigmenti hos en nyfødt dreng ', Ugeskrift for Laeger, bind 183, nr. 22, V03210247 . < https://ugeskriftet.dk/videnskab/incontinentia-pigmenti-hos-en-nyfodt-dreng >
Aarhus University
Bergmann, K, Gregersen, P A, Graakjær, J, Tareen, A & Sommerlund, M 2021, ' Incontinentia pigmenti in a newborn boy ', Ugeskrift for Laeger, vol. 183, no. 25 .
Aarhus University
Bergmann, K, Gregersen, P A, Graakjær, J, Tareen, A & Sommerlund, M 2021, ' Incontinentia pigmenti in a newborn boy ', Ugeskrift for Laeger, vol. 183, no. 25 .
Incontinentia pigmenti is an uncommon X-linked dominant neurocutaneous ectodermal dysplasia. The disorder is usually lethal in males in utero, although it may occasionally occur in males with somatic mosaicsism or Klinefelter syndrome. This is a case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::24769594fdf8a4832cbe91cff92d5546
https://ugeskriftet.dk/videnskab/incontinentia-pigmenti-hos-en-nyfodt-dreng
https://ugeskriftet.dk/videnskab/incontinentia-pigmenti-hos-en-nyfodt-dreng
Autor:
Astrid Christine Petersen, Dorte L Lildballe, Naja Becher, Pauline Bogaard, Else Marie Vestergaard, Niels Uldbjerg, Ida Charlotte Bay Lund, Jesper Graakjaer, Ida Vogel
Publikováno v:
Lund, I C B, Becher, N, Graakjaer, J, Lildballe, D L, Uldbjerg, N, Bogaard, P, Petersen, A, Vestergaard, E M & Vogel, I 2021, ' Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy ', Prenatal Diagnosis, vol. 41, no. 6, pp. 668-680 . https://doi.org/10.1002/pd.5938
Lund, I C B, Becher, N, Graakjaer, J, Lildballe, D, Uldbjerg, N, Bogaard, P, Petersen, A, Vestergaard, E M & Vogel, I 2022, ' Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy ', European Journal of Human Genetics, vol. 30, no. Suppl. 1, pp. 103 .
Lund, I C B, Becher, N, Graakjaer, J, Lildballe, D, Uldbjerg, N, Bogaard, P, Petersen, A, Vestergaard, E M & Vogel, I 2022, ' Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy ', European Journal of Human Genetics, vol. 30, no. Suppl. 1, pp. 103 .
OBJECTIVE: To compare mosaicisms in prenatal chorionic villus samples (CVSs) with corresponding postpartum placental samples.METHOD: We collected placentas from 15 consecutive cases of mosaicism detected in CVSs and obtained five standardized samples
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e252d453157af09cd87a616a7fdb5be6
https://findresearcher.sdu.dk:8443/ws/files/182490423/pd.5938.pdf
https://findresearcher.sdu.dk:8443/ws/files/182490423/pd.5938.pdf
Autor:
Boye L. Jensen, Christina Fagerberg, Charlotte Brasch-Andersen, Tina S Goharian, Jesper Graakjaer, Mads Nybo
Publikováno v:
Goharian, T S, Fagerberg, C R, Jensen, B L, Graakjaer, J, Brasch-Andersen, C & Nybo, M 2019, ' Prostaglandin E 2-EP 3 receptor subtype gene deletion in mother and son impairs platelet aggregation ', British Journal of Haematology, vol. 184, no. 5, pp. 851-853 . https://doi.org/10.1111/bjh.15196
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fad735c21a6ae38c6c878cb42fcf92b
https://findresearcher.sdu.dk:8443/ws/files/170612748/bjh.15196.pdf
https://findresearcher.sdu.dk:8443/ws/files/170612748/bjh.15196.pdf
Publikováno v:
Markholt, S, Graakjaer, J, Thim, S B, Høst, B & Skytte, A-B 2017, ' A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2 ', Clinical Case Reports, vol. 5, no. 7, pp. 1136-1140 . https://doi.org/10.1002/ccr3.1004
Skytte, A-B, Markholt, S, Høst, B, Graakjær, J & Thim, S E B 2017, ' A case of penta X syndrome caused by nondisjunction inmaternal meiosis 1 and 2 ' Clinical Case Report .
Clinical Case Reports
Skytte, A-B, Markholt, S, Høst, B, Graakjær, J & Thim, S E B 2017, ' A case of penta X syndrome caused by nondisjunction inmaternal meiosis 1 and 2 ', Clinical Case Report, bind 5, nr. 5, s. 1136-1140 . https://doi.org/10.1002/ccr3.1004
Skytte, A-B, Markholt, S, Høst, B, Graakjær, J & Thim, S E B 2017, ' A case of penta X syndrome caused by nondisjunction inmaternal meiosis 1 and 2 ' Clinical Case Report .
Clinical Case Reports
Skytte, A-B, Markholt, S, Høst, B, Graakjær, J & Thim, S E B 2017, ' A case of penta X syndrome caused by nondisjunction inmaternal meiosis 1 and 2 ', Clinical Case Report, bind 5, nr. 5, s. 1136-1140 . https://doi.org/10.1002/ccr3.1004
Key Clinical Message The prenatal abnormalities in patients with penta X syndrome appear late in pregnancy and are nonspecific. In contrast, the postnatal phenotype is well described although new findings are still revealed. Penta X syndrome is a res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ea06b691c055963fc8108a3e5a2577
https://findresearcher.sdu.dk:8443/ws/files/140887026/A_case_of_penta_X_syndrome_caused_by_nondisjunction_in_maternal_meiosis_1_and_2.pdf
https://findresearcher.sdu.dk:8443/ws/files/140887026/A_case_of_penta_X_syndrome_caused_by_nondisjunction_in_maternal_meiosis_1_and_2.pdf
Autor:
Maria Rasmussen, Lone Sunde, Olav Bjørn Petersen, Charlotte Brasch-Andersen, Dea Svaneby, Jesper Graakjaer, Maria Kibaek, Else Marie Vestergaard, Yanko Petkov, Christina Fagerberg, Iben Bache
Publikováno v:
Rasmussen, M, Vestergaard, E M, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibæk, M, Svaneby, D, Petersen, O B, Brasch-Andersen, C & Sunde, L 2016, ' 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature ', American Journal of Medical Genetics. Part A, vol. 170, no. 11, pp. 2934-2942 . https://doi.org/10.1002/ajmg.a.37848
Rasmussen, M, Vestergaard, E M, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibaek, M, Svaneby, D, Petersen, O B, Brasch-Andersen, C & Sunde, L 2016, ' 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. ', American Journal of Medical Genetics. Part A, vol. 170, no. 11, pp. 2934-2942 . https://doi.org/10.1002/ajmg.a.37848
Rasmussen, M, Vestergaard, E M, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibaek, M, Svaneby, D, Petersen, O B, Brasch-Andersen, C & Sunde, L 2016, ' 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. ', American Journal of Medical Genetics. Part A, vol. 170, no. 11, pp. 2934-2942 . https://doi.org/10.1002/ajmg.a.37848
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large natio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3878ac84b948cb54ada11aa5f4b53d29
https://portal.findresearcher.sdu.dk/da/publications/71469516-a0e8-40fb-ac78-201d77bf51ff
https://portal.findresearcher.sdu.dk/da/publications/71469516-a0e8-40fb-ac78-201d77bf51ff
Publikováno v:
Ostergaard, J R, Graakjær, J, Brandt, C & Birkebæk, N H 2012, ' Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment ', European Journal of Medical Genetics, vol. 55, pp. 22-26 . https://doi.org/10.1016/j.ejmg.2011.09.004
Recently, a 17p13.3 microdeletion syndrome characterized by significant postnatal growth retardation, mild to moderate mental retardation and facial dysmorphic manifestations has been delineated to a small region within the area of the Miller-Dieker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6772f59dcfc376228cf1a745d17924b
https://doi.org/10.1016/j.ejmg.2011.09.004
https://doi.org/10.1016/j.ejmg.2011.09.004