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Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2964, doi. 10.1002/ajmg.a.34302
By:
- Schönewolf-Greulich, Bitten;
- Ronan, Anne;
- Ravn, Kristine;
- Baekgaard, Peter;
- Lodahl, Marianne;
- Nielsen, Kate;
- Rendtorff, Nanna D.;
- Tranebjaerg, Lisbeth;
- Brøndum-Nielsen, Karen;
- Tümer, Zeynep
Publication type:
Article
Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations.
Published in:
Audiology & Neurotology, 2010, v. 15, n. 4, p. 211, doi. 10.1159/000255339
By:
- Topsakal, Vedat;
- Hilgert, Nele;
- Dinther, Joost van;
- Tranebjærg, Lisbeth;
- Rendtorff, Nanna D.;
- Zarowski, Andrzej;
- Offeciers, Erwin;
- Camp, Guy Van;
- De Heyning, Paul van
Publication type:
Article
Correction to: The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Published in:
2018
By:
- Tranebjærg, Lisbeth;
- Strenzke, Nicola;
- Lindholm, Sture;
- Rendtorff, Nanna D.;
- Poulsen, Hanne;
- Khandelia, Himanshu;
- Kopec, Wojciech;
- Lyngbye, Troels J. Brünnich;
- Hamel, Christian;
- Delettre, Cecile;
- Bocquet, Beatrice;
- Bille, Michael;
- Owen, Hanne H.;
- Bek, Toke;
- Jensen, Hanne;
- Østergaard, Karen;
- Möller, Claes;
- Luxon, Linda;
- Carr, Lucinda;
- Wilson, Louise
Publication type:
Correction Notice
The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Published in:
Human Genetics, 2018, v. 137, n. 2, p. 111, doi. 10.1007/s00439-017-1862-z
By:
- Tranebjærg, Lisbeth;
- Strenzke, Nicola;
- Lindholm, Sture;
- Rendtorff, Nanna D.;
- Poulsen, Hanne;
- Khandelia, Himanshu;
- Kopec, Wojciech;
- Lyngbye, Troels J. Brünnich;
- Hamel, Christian;
- Delettre, Cecile;
- Bocquet, Beatrice;
- Bille, Michael;
- Owen, Hanne H.;
- Bek, Toke;
- Jensen, Hanne;
- Østergaard, Karen;
- Möller, Claes;
- Luxon, Linda;
- Carr, Lucinda;
- Wilson, Louise
Publication type:
Article
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1646, doi. 10.1038/ejhg.2015.54
By:
- Dad, Shzeena;
- Rendtorff, Nanna D;
- Kann, Erik;
- Albrechtsen, Anders;
- Mehrjouy, Mana M;
- Bak, Mads;
- Tommerup, Niels;
- Tranebjærg, Lisbeth;
- Rosenberg, Thomas;
- Jensen, Hanne;
- Møller, Lisbeth B
Publication type:
Article
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.131
By:
- Dad, Shzeena;
- Rendtorff, Nanna D;
- Kann, Erik;
- Albrechtsen, Anders;
- Mehrjouy, Mana M;
- Bak, Mads;
- Tommerup, Niels;
- Tranebjærg, Lisbeth;
- Rosenberg, Thomas;
- Jensen, Hanne;
- Møller, Lisbeth B
Publication type:
Article
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1097, doi. 10.1038/sj.ejhg.5201670
By:
- Rendtorff, Nanna D.;
- Mei Zhu;
- Fagerheim, Toril;
- Antal, Torben L.;
- Jones, MaryPat;
- Teslovich, Tanya M.;
- Gillanders, Elizabeth M.;
- Barmada, Michael;
- Teig, Erik;
- Trent, Jeffrey M.;
- Friderici, Karen H.;
- Stephan, Dietrich A.;
- Tranebjærg, Lisbeth
Publication type:
Article
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
Published in:
2019
By:
- Mey, Kristianna;
- Muhamad, Ali A.;
- Tranebjærg, Lisbeth;
- Rendtorff, Nanna D.;
- Rasmussen, Stig H.;
- Bille, Michael;
- Cayé‐Thomasen, Per;
- Tranebjaerg, Lisbeth;
- Cayé-Thomasen, Per
Publication type:
journal article
The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non‐progressive infantile ataxia on chromosome 20q11‐q13.
Published in:
Developmental Dynamics, 2007, v. 236, n. 3, p. 843, doi. 10.1002/dvdy.21064
By:
- Jennifer S. Bennetts;
- Nanna D. Rendtorff;
- Fiona Simpson;
- Lisbeth Tranebjaerg;
- Carol Wicking
Publication type:
Article
Pump blood processing, salvage and re-transfusion improves hemoglobin levels after coronary artery bypass grafting, but affects coagulative and fibrinolytic systems.
Published in:
Perfusion, 2012, v. 27, n. 4, p. 270, doi. 10.1177/0267659112442236
By:
- Scrascia, G;
- Rotunno, C;
- Nanna, D;
- Rociola, R;
- Guida, P;
- Rubino, G;
- de Luca Tupputi Schinosa, L;
- Paparella, D
Publication type:
Article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970
By:
- Rendtorff, Nanna D.;
- Lodahl, Marianne;
- Boulahbel, Houda;
- Johansen, Ida R.;
- Pandya, Arti;
- Welch, Katherine O.;
- Norris, Virginia W.;
- Arnos, Kathleen S.;
- Bitner-Glindzicz, Maria;
- Emery, Sarah B.;
- Mets, Marilyn B.;
- Fagerheim, Toril;
- Eriksson, Kristina;
- Hansen, Lars;
- Bruhn, Helene;
- Möller, Claes;
- Lindholm, Sture;
- Ensgaard, Stefan;
- Lesperance, Marci M.;
- Tranebjaerg, Lisbeth
Publication type:
Article
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
Published in:
PLoS Genetics, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.pgen.1005386
By:
- Nyegaard, Mette;
- Rendtorff, Nanna D.;
- Nielsen, Morten S.;
- Corydon, Thomas J.;
- Demontis, Ditte;
- Starnawska, Anna;
- Hedemand, Anne;
- Buniello, Annalisa;
- Niola, Francesco;
- Overgaard, Michael T.;
- Leal, Suzanne M.;
- Ahmad, Wasim;
- Wikman, Friedrik P.;
- Petersen, Kirsten B.;
- Crüger, Dorthe G.;
- Oostrik, Jaap;
- Kremer, Hannie;
- Tommerup, Niels;
- Frödin, Morten;
- Steel, Karen P.
Publication type:
Article
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1251, doi. 10.1002/humu.22106
By:
- Bergman, Jorieke E.H.;
- Janssen, Nicole;
- van der Sloot, Almer M.;
- de Walle, Hermien E.K.;
- Schoots, Jeroen;
- Rendtorff, Nanna D.;
- Tranebjærg, Lisbeth;
- Hoefsloot, Lies H.;
- van Ravenswaaij-Arts, Conny M.A.;
- Hofstra, Robert M.W.
Publication type:
Article
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/ TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Published in:
Human Mutation, 2005, v. 26, n. 4, p. 374, doi. 10.1002/humu.20227
By:
- Rendtorff, Nanna D.;
- Bjerregaard, Bolette;
- Frödin, Morten;
- Kjaergaard, Susanne;
- Hove, Hanne;
- Skovby, Flemming;
- Brøndum-Nielsen, Karen;
- Schwartz, Marianne
Publication type:
Article
Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Published in:
Genes, 2022, v. 13, n. 1, p. 149, doi. 10.3390/genes13010149
By:
- Domínguez-Ruiz, María;
- Rodríguez-Ballesteros, Montserrat;
- Gandía, Marta;
- Gómez-Rosas, Elena;
- Villamar, Manuela;
- Scimemi, Pietro;
- Mancini, Patrizia;
- Rendtorff, Nanna D.;
- Moreno-Pelayo, Miguel A.;
- Tranebjaerg, Lisbeth;
- Medà, Carme;
- Santarelli, Rosamaria;
- del Castillo, Ignacio
Publication type:
Article
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Published in:
Movement Disorders, 2012, v. 27, n. 8, p. 1034, doi. 10.1002/mds.25033
By:
- Ha, Ainhi D.;
- Parratt, Kaitlyn L.;
- Rendtorff, Nanna D.;
- Lodahl, Marianne;
- Ng, Karl;
- Rowe, Dominic B.;
- Sue, Carolyn M.;
- Hayes, Michael W.;
- Tranebjærg, Lisbeth;
- Fung, Victor S.C.
Publication type:
Article

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