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Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Molecular genetics & genomic medicine

Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB.
PMID: 27957503
Mol Genet Genomic Med. 2016 Jun 28;4(5):527-539. doi: 10.1002/mgg3.228. eCollection 2016 Sep.

BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...

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Dad S, Rendtorff ND, Tranebjærg L, et al. Usher syndrome in Denmark: mutation spectrum and some clinical observations. Mol Genet Genomic Med. 2016;4(5):527-539doi: 10.1002/mgg3.228.
Dad, S., Rendtorff, N. D., Tranebjærg, L., Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, �. �., Roux, A. F., Rosenberg, T., Jensen, H., & Møller, L. B. (2016). Usher syndrome in Denmark: mutation spectrum and some clinical observations. Molecular genetics & genomic medicine, 4(5), 527-539. https://doi.org/10.1002/mgg3.228
Dad, Shzeena, et al. "Usher syndrome in Denmark: mutation spectrum and some clinical observations." Molecular genetics & genomic medicine vol. 4,5 (2016): 527-539. doi: https://doi.org/10.1002/mgg3.228
Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB. Usher syndrome in Denmark: mutation spectrum and some clinical observations. Mol Genet Genomic Med. 2016 Jun 28;4(5):527-539. doi: 10.1002/mgg3.228. eCollection 2016 Sep. PMID: 27957503; PMCID: PMC5023938.
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.

European journal of human genetics : EJHG

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC, Berggren KF.
PMID: 25828867
Eur J Hum Genet. 2015 Apr 01; doi: 10.1038/ejhg.2015.56. Epub 2015 Apr 01.

No abstract available.

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Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet. 2015;doi: 10.1038/ejhg.2015.56.
Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L., van El, C. G., Cornel, M. C., & Berggren, K. F. (2015). Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. European journal of human genetics : EJHG, . https://doi.org/10.1038/ejhg.2015.56
Dondorp, Wybo, et al. "Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations." European journal of human genetics : EJHG vol. (2015). doi: https://doi.org/10.1038/ejhg.2015.56
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC, Berggren KF. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet. 2015 Apr 01; doi: 10.1038/ejhg.2015.56. Epub 2015 Apr 01. PMID: 25828867.
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Long-Read Sequencing to Unravel Complex Structural Variants of .

Frontiers in cell and developmental biology

Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E.
PMID: 33968938
Front Cell Dev Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021.

Inactivating variants as well as a missense variant in the centrosomal

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Ascari G, Rendtorff ND, De Bruyne M, et al. Long-Read Sequencing to Unravel Complex Structural Variants of . Front Cell Dev Biol. 2021;9:664317doi: 10.3389/fcell.2021.664317.
Ascari, G., Rendtorff, N. D., De Bruyne, M., De Zaeytijd, J., Van Lint, M., Bauwens, M., Van Heetvelde, M., Arno, G., Jacob, J., Creytens, D., Van Dorpe, J., Van Laethem, T., Rosseel, T., De Pooter, T., De Rijk, P., De Coster, W., Menten, B., Rey, A. D., Strazisar, M., Bertelsen, M., Tranebjaerg, L., & De Baere, E. (2021). Long-Read Sequencing to Unravel Complex Structural Variants of . Frontiers in cell and developmental biology, 9664317. https://doi.org/10.3389/fcell.2021.664317
Ascari, Giulia, et al. "Long-Read Sequencing to Unravel Complex Structural Variants of ." Frontiers in cell and developmental biology vol. 9 (2021): 664317. doi: https://doi.org/10.3389/fcell.2021.664317
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E. Long-Read Sequencing to Unravel Complex Structural Variants of . Front Cell Dev Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021. PMID: 33968938; PMCID: PMC8097100.
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Deciphering the premature mortality in PIGA-CDG - An untold story.

Epilepsy research

Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS.
PMID: 33508693
Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 09.

OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients have intellectual disability and global developmental...

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Bayat A, Kløvgaard M, Johannesen KM, et al. Deciphering the premature mortality in PIGA-CDG - An untold story. Epilepsy Res. 2020;170:106530doi: 10.1016/j.eplepsyres.2020.106530.
Bayat, A., Kløvgaard, M., Johannesen, K. M., Barakat, T. S., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, L., Tümer, Z., Rubboli, G., & Møller, R. S. (2021). Deciphering the premature mortality in PIGA-CDG - An untold story. Epilepsy research, 170106530. https://doi.org/10.1016/j.eplepsyres.2020.106530
Bayat, Allan, et al. "Deciphering the premature mortality in PIGA-CDG - An untold story." Epilepsy research vol. 170 (2021): 106530. doi: https://doi.org/10.1016/j.eplepsyres.2020.106530
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Deciphering the premature mortality in PIGA-CDG - An untold story. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 09. PMID: 33508693.
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A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.

Human genetics

Abdelfatah N, Mostafa AA, French CR, Doucette LP, Penney C, Lucas MB, Griffin A, Booth V, Rowley C, Besaw JE, Tranebjærg L, Rendtorff ND, Hodgkinson KA, Little LA, Agrawal S, Parnes L, Batten T, Moore S, Hu P, Pater JA, Houston J, Galutira D, Benteau T, MacDonald C, French D, O'Rielly DD, Stanton SG, Young TL.
PMID: 34633540
Hum Genet. 2021 Oct 11; doi: 10.1007/s00439-021-02381-1. Epub 2021 Oct 11.

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 mapped...

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Abdelfatah N, Mostafa AA, French CR, et al. A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene. Hum Genet. 2021;doi: 10.1007/s00439-021-02381-1.
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. (2021). A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene. Human genetics, . https://doi.org/10.1007/s00439-021-02381-1
Abdelfatah, Nelly, et al. "A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene." Human genetics vol. (2021). doi: https://doi.org/10.1007/s00439-021-02381-1
Abdelfatah N, Mostafa AA, French CR, Doucette LP, Penney C, Lucas MB, Griffin A, Booth V, Rowley C, Besaw JE, Tranebjærg L, Rendtorff ND, Hodgkinson KA, Little LA, Agrawal S, Parnes L, Batten T, Moore S, Hu P, Pater JA, Houston J, Galutira D, Benteau T, MacDonald C, French D, O'Rielly DD, Stanton SG, Young TL. A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene. Hum Genet. 2021 Oct 11; doi: 10.1007/s00439-021-02381-1. Epub 2021 Oct 11. PMID: 34633540.
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Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Human genetics

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, 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.
PMID: 29435658
Hum Genet. 2018 Mar;137(3):279-280. doi: 10.1007/s00439-018-1870-7.

The following information was inadvertently omitted in the original publication.

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Tranebjærg L, Strenzke N, Lindholm S, et al. Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Hum Genet. 2018;137(3):279-280doi: 10.1007/s00439-018-1870-7.
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). Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Human genetics, 137(3), 279-280. https://doi.org/10.1007/s00439-018-1870-7
Tranebjærg, Lisbeth, et al. "Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management." Human genetics vol. 137,3 (2018): 279-280. doi: https://doi.org/10.1007/s00439-018-1870-7
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, 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. Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Hum Genet. 2018 Mar;137(3):279-280. doi: 10.1007/s00439-018-1870-7. PMID: 29435658.
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Provision of genetic services in Europe: current practices and issues.

European journal of human genetics : EJHG

Godard B, Kääriäinen H, Kristoffersson U, Tranebjaerg L, Coviello D, Aymé S.
PMID: 14718937
Eur J Hum Genet. 2003 Dec;11:S13-48. doi: 10.1038/sj.ejhg.5201111.

This paper examines the professional and scientific views on the social, ethical and legal issues that impact on the provision of genetic services in Europe. Many aspects have been considered, such as the definition and the aims of genetic...

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Godard B, Kääriäinen H, Kristoffersson U, et al. Provision of genetic services in Europe: current practices and issues. Eur J Hum Genet. 2003;11:S13-48doi: 10.1038/sj.ejhg.5201111.
Godard, B., Kääriäinen, H., Kristoffersson, U., Tranebjaerg, L., Coviello, D., & Aymé, S. (2003). Provision of genetic services in Europe: current practices and issues. European journal of human genetics : EJHG, 11S13-48. https://doi.org/10.1038/sj.ejhg.5201111
Godard, Béatrice, et al. "Provision of genetic services in Europe: current practices and issues." European journal of human genetics : EJHG vol. 11 (2003): S13-48. doi: https://doi.org/10.1038/sj.ejhg.5201111
Godard B, Kääriäinen H, Kristoffersson U, Tranebjaerg L, Coviello D, Aymé S. Provision of genetic services in Europe: current practices and issues. Eur J Hum Genet. 2003 Dec;11:S13-48. doi: 10.1038/sj.ejhg.5201111. PMID: 14718937.
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

European journal of human genetics : EJHG

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC.
PMID: 26468681
Eur J Hum Genet. 2015 Nov;23(11):1592. doi: 10.1038/ejhg.2015.109.

No abstract available.

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Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23(11):1592doi: 10.1038/ejhg.2015.109.
Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L., van El, C. G., & Cornel, M. C. (2015). Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. European journal of human genetics : EJHG, 23(11), 1592. https://doi.org/10.1038/ejhg.2015.109
Dondorp, Wybo, et al. "Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening." European journal of human genetics : EJHG vol. 23,11 (2015): 1592. doi: https://doi.org/10.1038/ejhg.2015.109
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015 Nov;23(11):1592. doi: 10.1038/ejhg.2015.109. PMID: 26468681; PMCID: PMC4613480.
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Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

European journal of human genetics : EJHG

van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM.
PMID: 23819146
Eur J Hum Genet. 2013 Jun;21:S1-5.

No abstract available.

Cite
van El CG, Cornel MC, Borry P, et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:S1-5
van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., Howard, H. C., Cambon-Thomsen, A., Knoppers, B. M., Meijers-Heijboer, H., Scheffer, H., Tranebjaerg, L., Dondorp, W., de Wert, G. M. (2013). Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. European journal of human genetics : EJHG, 21S1-5.
van El, Carla G, et al. "Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics." European journal of human genetics : EJHG vol. 21 (2013): S1-5.
van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013 Jun;21:S1-5. PMID: 23819146; PMCID: PMC3660957.
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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Genetics in medicine : official journal of the American College of Medical Genetics

Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM.
PMID: 32934366
Genet Med. 2021 Jan;23(1):237. doi: 10.1038/s41436-020-00969-y.

No abstract available.

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Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, et al. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Genet Med. 2021;23(1):237doi: 10.1038/s41436-020-00969-y.
Beauregard-Lacroix, E., Pacheco-Cuellar, G., Ajeawung, N. F., Tardif, J., Dieterich, K., Dabir, T., Vind-Kezunovic, D., White, S. M., Zadori, D., Castiglioni, C., Tranebjærg, L., Tørring, P. M., Blair, E., Wisniewska, M., Camurri, M. V., van Bever, Y., Molidperee, S., Taylor, J., Dionne-Laporte, A., Sisodiya, S. M., Hennekam, R. C. M., & Campeau, P. M. (2021). Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Genetics in medicine : official journal of the American College of Medical Genetics, 23(1), 237. https://doi.org/10.1038/s41436-020-00969-y
Beauregard-Lacroix, Eliane, et al. "Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant." Genetics in medicine : official journal of the American College of Medical Genetics vol. 23,1 (2021): 237. doi: https://doi.org/10.1038/s41436-020-00969-y
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Genet Med. 2021 Jan;23(1):237. doi: 10.1038/s41436-020-00969-y. PMID: 32934366.
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Partial USH2A deletions contribute to Usher syndrome in Denmark.

European journal of human genetics : EJHG

Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB.
PMID: 26559128
Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.131.

No abstract available.

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Dad S, Rendtorff ND, Kann E, et al. Partial USH2A deletions contribute to Usher syndrome in Denmark. Eur J Hum Genet. 2015;23(12):1750doi: 10.1038/ejhg.2015.131.
Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H., & Møller, L. B. (2015). Partial USH2A deletions contribute to Usher syndrome in Denmark. European journal of human genetics : EJHG, 23(12), 1750. https://doi.org/10.1038/ejhg.2015.131
Dad, Shzeena, et al. "Partial USH2A deletions contribute to Usher syndrome in Denmark." European journal of human genetics : EJHG vol. 23,12 (2015): 1750. doi: https://doi.org/10.1038/ejhg.2015.131
Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Partial USH2A deletions contribute to Usher syndrome in Denmark. Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.131. PMID: 26559128; PMCID: PMC4795201.
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Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.

Human genetics

McTiernan N, Tranebjærg L, Bjørheim AS, Hogue JS, Wilson WG, Schmidt B, Boerrigter MM, Nybo ML, Smeland MF, Tümer Z, Arnesen T.
PMID: 35039925
Hum Genet. 2022 Jan 17; doi: 10.1007/s00439-021-02427-4. Epub 2022 Jan 17.

NAA10 is the catalytic subunit of the N-terminal acetyltransferase complex, NatA, which is responsible for N-terminal acetylation of nearly half the human proteome. Since 2011, at least 21 different NAA10 missense variants have been reported as pathogenic in humans....

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McTiernan N, Tranebjærg L, Bjørheim AS, et al. Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation. Hum Genet. 2022;doi: 10.1007/s00439-021-02427-4.
McTiernan, N., Tranebjærg, L., Bjørheim, A. S., Hogue, J. S., Wilson, W. G., Schmidt, B., Boerrigter, M. M., Nybo, M. L., Smeland, M. F., Tümer, Z., & Arnesen, T. (2022). Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation. Human genetics, . https://doi.org/10.1007/s00439-021-02427-4
McTiernan, Nina, et al. "Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation." Human genetics vol. (2022). doi: https://doi.org/10.1007/s00439-021-02427-4
McTiernan N, Tranebjærg L, Bjørheim AS, Hogue JS, Wilson WG, Schmidt B, Boerrigter MM, Nybo ML, Smeland MF, Tümer Z, Arnesen T. Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation. Hum Genet. 2022 Jan 17; doi: 10.1007/s00439-021-02427-4. Epub 2022 Jan 17. PMID: 35039925.
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