Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants

Autor: Herlin, Laura Krogh, Herlin, Morten Krogh, Blechingberg, Jenny, Rønholt, Kirsten, Graversen, Lise, Schmidt, Sigrun A.J., Jørgensen, Mette Warming, Hellfritzsch, Michel Bach, Hald, Jannie Dahl, Beck-Nielsen, Signe Sparre, Gjørup, Hans, Andersen, Brian Nauheimer, Gregersen, Pernille Axél, Sommerlund, Mette

Publikováno v: In European Journal of Medical Genetics June 2024 69

Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2

Autor: Markholt, Sara, Andreasen, Lotte, Bjerre, Jesper, Gregersen, Pernille Axél, Andersen, Brian Nauheimer

Publikováno v: In European Journal of Medical Genetics February 2023 66(2)

Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark

Autor: Møller, Rikke S, Zhao, Liwei, Shoaff, Jessica R., Duno, Morten, Andersen, Brian Nauheimer, Nguyen, Viet, Fang, Terry C., Kupelian, Varant, Thorén, Robyn

Publikováno v: Møller, R S, Zhao, L, Shoaff, J R, Duno, M, Andersen, B N, Nguyen, V, Fang, T C, Kupelian, V & Thorén, R 2022, ' Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark ', Molecular Genetics and Metabolism, vol. 33, 100924 . https://doi.org/10.1016/j.ymgmr.2022.100924

ObjectiveTo estimate the incidence of Aicardi-Goutières syndrome (AGS) and potassium sodium-activated channel subfamily T member 1 (KCNT1)-related epilepsy in Denmark and to characterize the patients diagnosed with AGS and KCNT1-related epilepsy.Bac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::16c47aeec5fd0563f670144198885cd4
https://pure.au.dk/portal/da/publications/incidence-of-aicardigoutieres-syndrome-and-kcnt1related-epilepsy-in-denmark(aba3c289-988a-4258-a252-eaf8ad656e76).html

Udredning, opfølgning og behandling af tuberøs sklerose-kompleks

Autor: Reinhard, Mark, Sunde, Lone, Madsen, Mia Gebauer, Andersen, Brian Nauheimer, Bendstrup, Elisabeth, Sommerlund, Mette, Gjørup, Hans, Larsen, Dorte Ancher, Møller, Hans Ulrik, Nielsen, Dorte Guldbrand, Mortensen, Ulrik Markus, Handrup, Mette Møller, Aagaard, Niels Kristian Muff, Cortnum, Søren, Khatir, Dinah Sherzad, Bayat, Michael, Andersen, Gratien, Stausbøl-Grøn, Brian, Christensen, Jakob

Publikováno v: Reinhard, M, Sunde, L, Madsen, M G, Andersen, B N, Bendstrup, E, Sommerlund, M, Gjørup, H, Larsen, D A, Møller, H U, Nielsen, D G, Mortensen, U M, Handrup, M M, Aagaard, N K M, Cortnum, S, Khatir, D S, Bayat, M, Andersen, G, Stausbøl-Grøn, B & Christensen, J 2020, ' Udredning, opfølgning og behandling af tuberøs sklerose-kompleks ', Ugeskrift for Laeger, bind 181, nr. 14, s. 2-7 .
Reinhard, M, Sunde, L, Madsen, M G, Andersen, B N, Bendstrup, E, Sommerlund, M, Gjørup, H, Larsen, D A, Møller, H U, Nielsen, D G, Mortensen, U M, Handrup, M M, Aagaard, N K M, Cortnum, S, Khatir, D S, Bayat, M, Andersen, G, Stausbøl-Grøn, B & Christensen, J 2019, ' Udredning, opfølgning og behandling af tuberøs sklerose-kompleks ', Ugeskrift for Læger, bind 181, nr. 45, V05190293 . < https://ugeskriftet.dk/videnskab/udredning-opfolgning-og-behandling-af-tuberos-sklerose-kompleks >

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with highly varying disease manifestations, many of which cause extensive morbidity. There are international consensus criteria for the diagnosis, monitoring and treatment of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7200770c99efca928bf3df65d4c259eb
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Novel TRPV4-mutation causing severe metatropic dysplasia

Autor: Andersen, Brian Nauheimer, Haagerup, Annette, Graversen, Lise, Petersen, Karin Kastberg, Gudmundsdottir, Gudrun, Vogel, Ida, Gregersen, Pernille A

Publikováno v: Andersen, B N, Haagerup, A, Graversen, L, Petersen, K K, Gudmundsdottir, G, Vogel, I & Gregersen, P A 2017, ' Novel TRPV4-mutation causing severe metatropic dysplasia ', ESHG 2017: European Society of Human Genetics Annual Meeting, Copenhagen, Denmark, 27/05/2017-30/05/2017 .

Background Metatropic dysplasia is a skeletal dysplasia characterized by craniofacial dysmorphia (frontal bossing and midface hypoplasia), thorax abnormalities (short ribs and development of severe scoliosis/kyphosis) and short limbs (metaphyseal abn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::b055a3e0c28f922834be4ca811efae05
https://pure.au.dk/portal/da/publications/novel-trpv4mutation-causing-severe-metatropic-dysplasia(aabd06ea-b521-487c-ba7a-d9ead6ab084f).html