Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Allan Thomas Højland"'
Autor:
Dan Dupont Hougaard, Danial Hofgaard Hestoy, Allan Thomas Højland, Michael Gaihede, Michael Bjørn Petersen
Publikováno v:
Journal of International Advanced Otology, Vol 15, Iss 2, Pp 296-303 (2019)
Externí odkaz:
https://doaj.org/article/c2371f56174e428b96da3424d1eea7b6
Autor:
Inger Norlyk Sheyanth, Allan Thomas Højland, Henrik Okkels, Ihab Lolas, Christian Thorup, Michael Bjørn Petersen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background CABP2‐related non‐syndromic hearing loss have only been reported in a few families worldwide (Iran, Turkey, Pakistan and Italy). The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe.
Externí odkaz:
https://doaj.org/article/eefdb2cf193240bb860cac6ea31109d0
Autor:
Guy Van Camp, Vedat Topsakal, Manou Sommen, Ingeborg Dhooge, Alexander M. Huber, Michael B. Petersen, Henricus P. M. Kunst, Diego Zanetti, Isabelle Schatteman, Isabelle Schrauwen, Allan Thomas Højland, Lisse J.M. Tavernier, Alexander Hoischen, Erik Fransen
Publikováno v:
Human Genetics, 141, 951-963
Human Genetics, 141(3-4), 951-963. Springer
Højland, A T, Tavernier, L J M, Schrauwen, I, Sommen, M, Topsakal, V, Schatteman, I, Dhooge, I, Huber, A, Zanetti, D, Kunst, H P M, Hoischen, A, Petersen, M B, Van Camp, G & Fransen, E 2022, ' A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis ', Human Genetics, vol. 141, no. 3-4, pp. 951–963 . https://doi.org/10.1007/s00439-021-02334-8
Human Genetics, 141, 3-4, pp. 951-963
Human genetics
Human Genetics, 141(3-4), 951-963. Springer
Højland, A T, Tavernier, L J M, Schrauwen, I, Sommen, M, Topsakal, V, Schatteman, I, Dhooge, I, Huber, A, Zanetti, D, Kunst, H P M, Hoischen, A, Petersen, M B, Van Camp, G & Fransen, E 2022, ' A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis ', Human Genetics, vol. 141, no. 3-4, pp. 951–963 . https://doi.org/10.1007/s00439-021-02334-8
Human Genetics, 141, 3-4, pp. 951-963
Human genetics
Contains fulltext : 251696.pdf (Publisher’s version ) (Closed access) In this study, we investigated the association of ACAN variants with otosclerosis, a frequent cause of hearing loss among young adults. We sequenced the coding, 5'-UTR and 3'-UTR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16177dd23b29772f7a0df8670031141b
http://hdl.handle.net/2066/251696
http://hdl.handle.net/2066/251696
Autor:
Henrik Okkels, Ihab Bishara Yousef Lolas, Christian Thorup, Michael B. Petersen, Allan Thomas Højland, Inger Norlyk Sheyanth
Publikováno v:
Sheyanth, I N, Højland, A T, Okkels, H, Lolas, I, Thorup, C & Petersen, M B 2021, ' First reported CABP2-related non-syndromic hearing loss in Northern Europe ', Molecular Genetics and Genomic Medicine, vol. 9, no. 4, e1639 . https://doi.org/10.1002/mgg3.1639
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Sheyanth, I N, Højland, A T, Okkels, H, Lolas, I, Thorup, C & Petersen, M B 2021, ' First reported CABP2-related non-syndromic hearing loss in Northern Europe ', Molecular Genetics & Genomic Medicine, vol. 9, no. 4, e1639 . https://doi.org/10.1002/mgg3.1639
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Sheyanth, I N, Højland, A T, Okkels, H, Lolas, I, Thorup, C & Petersen, M B 2021, ' First reported CABP2-related non-syndromic hearing loss in Northern Europe ', Molecular Genetics & Genomic Medicine, vol. 9, no. 4, e1639 . https://doi.org/10.1002/mgg3.1639
Background CABP2‐related non‐syndromic hearing loss have only been reported in a few families worldwide (Iran, Turkey, Pakistan and Italy). The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5483422565d4eb8b44ef0ebf8651165e
https://vbn.aau.dk/ws/files/413505643/Sheyanth_et_al._2021_First_reported_CABP2_related_non_syndromic_hearing_loss_in_Northern_Europe.pdf
https://vbn.aau.dk/ws/files/413505643/Sheyanth_et_al._2021_First_reported_CABP2_related_non_syndromic_hearing_loss_in_Northern_Europe.pdf
Autor:
Danial Hofgaard Hestoy, Allan Thomas Højland, Dan Dupont Hougaard, Michael Gailhede, Michael B. Petersen
Publikováno v:
Journal of International Advanced Otology, Vol 15, Iss 2, Pp 296-303 (2019)
Hougaard, D D, Hestoy, D H, Højland, A T, Gaihede, M & Petersen, M B 2019, ' Audiological and Vestibular Findings in Subjects with MELAS Syndrome ', The Journal of International Advanced Otology, vol. 15, no. 2, pp. 296-303 . https://doi.org/10.5152/iao.2019.5913
Hougaard, D D, Hestoy, D H, Højland, A T, Gaihede, M & Petersen, M B 2019, ' Audiological and Vestibular Findings in Subjects with MELAS Syndrome ', The Journal of International Advanced Otology, vol. 15, no. 2, pp. 296-303 . https://doi.org/10.5152/iao.2019.5913
OBJECTIVES: The mitochondrial DNA (mtDNA) point mutation m.3243A>G is known to express the following two syndromes among others: Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like epis
Autor:
Helena Gásdal Karstensen, Kresten Lindorff-Larsen, Nanna Dahl Rendtorff, Lone Sandbjerg Hindbæk, Allan Thomas Højland, Niels H Birkebaek, Rasmus Hartmann-Petersen, Lisbeth Tranebjærg, Roberto Colombo, Amelie Stein, Michael B. Petersen
Publikováno v:
Karstensen, H G, Rendtorff, N D, Hindbæk, L S, Colombo, R, Stein, A, Birkebæk, N H, Hartmann-Petersen, R, Lindorff-Larsen, K, Højland, A T, Petersen, M B & Tranebjærg, L 2020, ' Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome ', European Journal of Medical Genetics, vol. 63, no. 3, 103733 . https://doi.org/10.1016/j.ejmg.2019.103733
Karstensen, H G, Rendtorff, N D, Hindbæk, L S, Colombo, R, Stein, A, Birkebæk, N H, Hartmann-Petersen, R, Lindorff-Larsen, K, Højland, A T, Petersen, M B & Tranebjærg, L 2020, ' Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome ', European Journal of Medical Genetics, vol. 63, no. 3, 103733, pp. 103733 . https://doi.org/10.1016/j.ejmg.2019.103733
Karstensen, H G, Rendtorff, N D, Hindbæk, L S, Colombo, R, Stein, A, Birkebæk, N H, Hartmann-Petersen, R, Lindorff-Larsen, K, Højland, A T, Petersen, M B & Tranebjærg, L 2020, ' Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome ', European Journal of Medical Genetics, vol. 63, no. 3, 103733, pp. 103733 . https://doi.org/10.1016/j.ejmg.2019.103733
Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency. Here we report three novel families, compound heterozygous for missense variants in HARS2
Autor:
Michael B. Petersen, Anja Ernst, Henrik Krarup, Troels Jb Lyngbye, Tine Høg Sørensen, Vang Quy Le, Allan Thomas Højland, Inge Søkilde Pedersen, Lise Lotte Bjerregaard, Ninna Marturin Gammelager
Publikováno v:
Molecular Syndromology. 6:181-186
The family presented with 4 boys, 2 sets of brothers, with unexplained intellectual disability. Numerous analyses had been conducted over more than a decade, without reaching a final clinical or molecular diagnosis. According to the pedigree, an X-li
Autor:
Danjal Hofgaard Hestoy, Dan Dupont Hougaard, Allan Thomas Højland, Michael Gaihede, Michael Bjørn Petersen
Publikováno v:
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, ' Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G ', European Human Genetics Conference 2017 (ESHG), København, Denmark, 27/05/2017-30/05/2017 .
Aalborg University
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G . in XIV Årsmøde i Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi . pp. 40, Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi, Nyborg, Denmark, 20/04/2017 .
Aalborg University
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G . in XIV Årsmøde i Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi . pp. 40, Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi, Nyborg, Denmark, 20/04/2017 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e42edcea7712a2e66a3308cd46a61e5f
https://vbn.aau.dk/ws/files/265793158/Abstract_ESHG_2017.pdf
https://vbn.aau.dk/ws/files/265793158/Abstract_ESHG_2017.pdf
Publikováno v:
Herlin, M, Højland, A T & Petersen, M B 2014, ' Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome : A case report and review of the literature ', American Journal of Medical Genetics. Part A, vol. 164, no. 9, pp. 2276-2286 . https://doi.org/10.1002/ajmg.a.36652
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder of still unknown etiology, characterized by uterovaginal agenesis and can be associated with renal, skeletal and cardiac malformations. Most cases are sporadic. We report on a f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b2a73e6a775902d3f2b4d67cbad2b4
https://pure.au.dk/portal/da/publications/familial-occurrence-of-mayerrokitanskykusterhauser-syndrome(0384cca2-4c70-4e48-b2ad-f0b0e81f1ec8).html
https://pure.au.dk/portal/da/publications/familial-occurrence-of-mayerrokitanskykusterhauser-syndrome(0384cca2-4c70-4e48-b2ad-f0b0e81f1ec8).html
Autor:
Morten Herlin, Søren Peter Jonstrup, Allan Thomas Højland, Inge Søkilde Pedersen, Poul Henning Madsen, Anja Ernst, Henrik Okkels, Vang Le-Quy, Henrik Krarup, Michael Bjørn Petersen
Publikováno v:
Aarhus University
Herlin, M, Jonstrup, S P, Højland, A T, Pedersen, I S, Madsen, P H, Ernst, A, Okkels, H, Le, V, Krarup, H & Petersen, M B 2013, ' Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing ', ASHG, American Society of Human Genetics, Boston, United States, 22/10/2013-26/10/2013 . < http://abstracts.ashg.org/cgi-bin/2013/ashg13s.pl >
Aalborg University
Herlin, M, Jonstrup, S P, Højland, A T, Pedersen, I S, Madsen, P H, Ernst, A, Okkels, H, Le, V Q, Krarup, H & Petersen, M B 2013, ' Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing ', ASHG, annual meeting, Boston, USA, 22/10/2013-26/10/2013 .
Herlin, M, Jonstrup, S P, Højland, A T, Pedersen, I S, Madsen, P H, Ernst, A, Okkels, H, Le, V, Krarup, H & Petersen, M B 2013, ' Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing. ', Annual Meeting of the American Society of Human Genetics, Boston, MA, United States, 22/10/2013-26/10/2013 .
Herlin, M, Jonstrup, S P, Højland, A T, Pedersen, I S, Madsen, P H, Ernst, A, Okkels, H, Le, V, Krarup, H & Petersen, M B 2013, ' Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing ', ASHG, American Society of Human Genetics, Boston, United States, 22/10/2013-26/10/2013 . < http://abstracts.ashg.org/cgi-bin/2013/ashg13s.pl >
Aalborg University
Herlin, M, Jonstrup, S P, Højland, A T, Pedersen, I S, Madsen, P H, Ernst, A, Okkels, H, Le, V Q, Krarup, H & Petersen, M B 2013, ' Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing ', ASHG, annual meeting, Boston, USA, 22/10/2013-26/10/2013 .
Herlin, M, Jonstrup, S P, Højland, A T, Pedersen, I S, Madsen, P H, Ernst, A, Okkels, H, Le, V, Krarup, H & Petersen, M B 2013, ' Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing. ', Annual Meeting of the American Society of Human Genetics, Boston, MA, United States, 22/10/2013-26/10/2013 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1aae8a9d7be1a35344e6cf9a4ec845d2
https://pure.au.dk/portal/en/publications/investigations-on-the-molecular-genetic-etiology-of-mayerrokitanskykusterhauser-syndrome-in-two-cousins-using-exome-sequencing(64441b7a-f7ce-4750-88c6-6453798c07f2).html
https://pure.au.dk/portal/en/publications/investigations-on-the-molecular-genetic-etiology-of-mayerrokitanskykusterhauser-syndrome-in-two-cousins-using-exome-sequencing(64441b7a-f7ce-4750-88c6-6453798c07f2).html