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

Identification of translocation products but not K-RAS mutations in memory B cells from patients with multiple myeloma

Autor: Thomas Rasmussen, Jacob Haaber, Inger Marie Dahl, Lene M. Knudsen, Gitte B. Kerndrup, Marianne Lodahl, Hans E. Johnsen, Michael Kuehl

Publikováno v: Haematologica, Vol 95, Iss 10 (2010)

Background Several laboratories have shown that cells with a memory B-cell phenotype can have the same clonotype as multiple myeloma tumor cells.Design and Methods The aim of this study was to determine whether some memory B cells have the same genet

Externí odkaz: https://doaj.org/article/8a1a99ad89d14204aef6192ee641e20f

The Global State of the Genetic Counseling Profession

Autor: Marianne Lodahl, Ramona Moldovan, Kunal Sanghavi, Jenna Scott, Deborah M. Lambert, Janice G. Edwards, Anna Middleton, Charlotta Ingvoldstad Malmgren, Ivan Macciocca, Eliza Courtney, Sook-Yee Yoon, Joanne Ngeow, Milena Paneque, Diana Scotcher, Lian-Hua Huang, Hyon J. Kim, Shelley Macaulay, Sahil Kejriwal, Juliana M. H. Lee, Paulina Araceli Lantigua-Cruz, Lamia Alsubaie, Emeline Davoine, Kristine Barlow-Stewart, Kate Gardiner, Christophe Cordier, Beppy Caanen, Åshild Lunde, Tina-Marié Wessels, Sonia Margarit, Yue Guan, Mary Ann R. Abacan, Kelly E. Ormond, Clara Serra Juhé, Alexandra J Obregón-Tito, Catherine Wicklund, Niby J. Elackatt, Shiri Shkedi-Rafid, Karen P. Powell

Publikováno v: Abacan, M, Alsubaie, L, Barlow-stewart, K, Caanen, B, Cordier, C, Courtney, E, Davoine, E, Edwards, J, Elackatt, N J, Gardiner, K, Guan, Y, Huang, L, Malmgren, C I, Kejriwal, S, Kim, H J, Lambert, D, Lantigua-cruz, P A, Lee, J M H, Lodahl, M, Lunde, Å, Macaulay, S, Macciocca, I, Margarit, S, Middleton, A, Moldovan, R, Ngeow, J, Obregon-tito, A J, Ormond, K E, Paneque, M, Powell, K, Sanghavi, K, Scotcher, D, Scott, J, Juhé, C S, Shkedi-rafid, S, Wessels, T, Yoon, S & Wicklund, C 2018, ' The Global State of the Genetic Counseling Profession ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-018-0252-x
Recercat. Dipósit de la Recerca de Catalunya
instname

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbee5da386693076b342301e65f343ed
http://hdl.handle.net/10230/37123

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

Autor: Hanna Arnesson, Lisbeth Tranebjærg, Anna-Carin Rehnman, Niklas Dahl, Ulla Wedén, Nanna Dahl Rendtorff, Joakim Klar, Marianne Lodahl, Carina Frykholm

Publikováno v: Gene. 563:10-16

Linkage to an interval overlapping the DFNA10 locus on chromosome 6q22-23 was found through genome wide linkage analysis in a seven-generation Swedish family segregating postlingual, autosomal dominant nonsyndromic sensorineural hearing impairment. A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa47e04e3cff645c0f303323e9f258fc
https://doi.org/10.1016/j.gene.2015.02.022

Mutation update on the CHD7 gene involved in CHARGE syndrome

Autor: Jeroen Schoots, Conny M. A. van Ravenswaaij-Arts, Marianne Lodahl, Jorieke E. H. Bergman, Lies H. Hoefsloot, Morris A. Swertz, Lisbeth Tranebjærg, Nicole Janssen, Robert M.W. Hofstra

Publikováno v: Human Mutation, 33(8), 1149-1160. Wiley-Liss Inc.

CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling. Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malform

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3be144e209fbff73dca479c2bdecbf96
https://hdl.handle.net/11370/5ffff28f-5b20-4eb9-bde6-ab1d601d93f1