Výsledky vyhledávání - "Nanna Dahl Rendtorff"

Akademický článek

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Autor: Nanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, John Tolmie, Catherine McWilliam, Mads Bak, Niels Tommerup, Lusine Nazaryan-Petersen, Henricus Kunst, Melanie Wong, Shelagh Joss, Valerio Carelli, Lisbeth Tranebjærg

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)

Abstract Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MTS is caused by pathogenic varia

Externí odkaz: https://doaj.org/article/d858861486ad4cac98948aef499b9026

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Identification and analysis of deletion breakpoints in four Mohr-Tranebj AE rg syndrome (MTS) patients

Publikováno v: Scientific Reports, 12, 1
Rendtorff, N D, Karstensen, H G, Lodahl, M, Tolmie, J, McWilliam, C, Bak, M, Tommerup, N, Nazaryan-Petersen, L, Kunst, H, Wong, M, Joss, S, Carelli, V & Tranebjærg, L 2022, ' Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients ', Scientific Reports, vol. 12, 14959 . https://doi.org/10.1038/s41598-022-18040-y
Scientific Reports, 12
Scientific Reports, 12(1):14959. Nature Publishing Group

Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MTS is caused by pathogenic variants in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42417b48510bc37f1dea033c3361877

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Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome

Autor: Nanna Dahl Rendtorff, Øivind Nilssen, Pernille Mathiesen Tørring, Marika F. Moldenæs, Lone Sandbjerg Hindbæk, Lisbeth Tranebjærg

Publikováno v: Moldenæs, M F, Rendtorff, N D, Hindbæk, L S, Tørring, P M, Nilssen, Ø & Tranebjærg, L 2021, ' Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome ', European Journal of Medical Genetics, vol. 64, no. 9, 104265 . https://doi.org/10.1016/j.ejmg.2021.104265

The SRY-related HMG box gene 10 (SOX10), located on 22q13.1, encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate and differentiation. SOX10 is one of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a5f8b73c9b80a737751145219db75a4
https://hdl.handle.net/10037/22718

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Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

Autor: Michael Bille, Ali A. Muhamad, Stig Hebbelstrup Rye Rasmussen, Nanna Dahl Rendtorff, Per Cayé-Thomasen, Kristianna Mey, Lisbeth Tranebjærg

Publikováno v: The Laryngoscope. 129:2574-2579

OBJECTIVE To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with Pendred syndrome (PS) or nonsyndromic enlarged vestibular aqueduct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c2251dea8b7bbb2d8ae1820f1e36524
https://doi.org/10.1002/lary.27319

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A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

Publikováno v: Abdelfatah, N, Mostafa, A A, French, C R, Doucette, L P, Penney, C, Lucas, M B, Griffin, A, Booth, V, Rowley, C, Besaw, J E, Tranebjærg, L, Rendtorff, N D, Hodgkinson, K A, Little, L A, Agrawal, S, Parnes, L, Batten, T, Moore, S, Hu, P, Pater, J A, Houston, J, Galutira, D, Benteau, T, MacDonald, C, French, D, O’Rielly, D D, Stanton, S G & Young, T L 2022, ' A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene ', Human Genetics, vol. 141, pp. 965–979 . https://doi.org/10.1007/s00439-021-02381-1

Otosclerosis is a bone disorder of the otic capsule and common form of late-onset hearing impairment. Considered a complex disease, little is known about its pathogenesis. Over the past 20 years, ten autosomal dominant loci (OTSC1-10) have been mappe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf6cfb0bb7f5d5a0bba921775b726b4
https://pubmed.ncbi.nlm.nih.gov/34633540

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

Publikováno v: Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111-127 . https://doi.org/10.1007/s00439-017-1862-z
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩
Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111–127 . https://doi.org/10.1007/s00439-017-1862-z

International audience; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G\textgreaterA, p.Glu818Lys, in AT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7426660fc4d077dcb8ac340d07464985
https://doi.org/10.1007/s00439-017-1862-z

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Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Autor: Andreas Puschmann, Sorina Gorcenco, Nanna Dahl Rendtorff, Frans P.M. Cremers, Sten Andréasson, Frédéric M. Vaz, Anna Maria Tracewska-Siemiatkowska, Lisbeth Tranebjærg, Claes Möller, Jenő Kicsi, Emil Ygland, Ulrika Kjellström

Publikováno v: Parkinsonism & related disorders, 61, 245-247. Elsevier BV
Parkinsonism & Related Disorders, 61, 245-247
Parkinsonism & Related Disorders, 61, pp. 245-247

Contains fulltext : 206709.pdf (Publisher’s version ) (Closed access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::490a2bc126f5015f4d55c58fa0357eb3
https://doi.org/10.1016/j.parkreldis.2018.10.017

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A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

Autor: Tina Munjal, Isabelle Roux, Keiji Honda, Davide Risso, Andrew J. Griffith, Jessica S. Ratay, Julie A. Muskett, E. Michael Gertz, Lisbeth Tranebjærg, Robert J. Morell, Parna Chattaraj, Thomas B. Friedman, Nanna Dahl Rendtorff, Alejandro A. Schäffer

Publikováno v: Journal of Medical Genetics. 54:665-673

Background Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the SLC26A4 gene are often detected in Caucasians with EV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d955836cce9bbfd6d005b0a2f67981a
https://doi.org/10.1136/jmedgenet-2017-104721

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Functional assessment of variants associated with Wolfram syndrome

Autor: Nanna Dahl Rendtorff, Detlef Bockenhauer, Semra Çetinkaya, Sebahat Yilmaz, Erdal Kurnaz, Zehra Aycan, Maria Bitner-Glindzicz, Melissa Riachi, Lisbeth Tranebjærg, Khalid Hussain

Publikováno v: Riachi, M, Yilmaz, S, Kurnaz, E, Aycan, Z, Çetinkaya, S, Tranebjærg, L, Rendtorff, N D, Bitner-Glindzicz, M, Bockenhauer, D & Hussain, K 2019, ' Functional assessment of variants associated with Wolfram syndrome ', Human Molecular Genetics, vol. 28, no. 22, pp. 3815-3824 . https://doi.org/10.1093/hmg/ddz212

Wolfram syndrome (WS) is a heterogeneous multisystem neurodegenerative disorder with two allelic variations in addition to a separate subtype known as WS type 2. The wide phenotypic spectrum of WS includes diabetes mellitus and optic atrophy which is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7556741dfe0d19403f3eaeccc1e633
https://curis.ku.dk/portal/da/publications/functional-assessment-of-variants-associated-with-wolfram-syndrome(cc03cf53-8d48-4ace-80a1-e6d515b75243).html

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