Lodahl M - Search Results

1

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Janssen N, et al. Among authors: lodahl m. Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22461308 Review.

2

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND. Rasmussen MB, et al. Among authors: lodahl m. Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2. Hum Genet. 2016. PMID: 26839112

3

The Global State of the Genetic Counseling Profession.

Abacan M, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, Davoine E, Edwards J, Elackatt NJ, Gardiner K, Guan Y, Huang LH, Malmgren CI, Kejriwal S, Kim HJ, Lambert D, Lantigua-Cruz PA, Lee JMH, Lodahl M, Lunde Å, Macaulay S, Macciocca I, Margarit S, Middleton A, Moldovan R, Ngeow J, Obregon-Tito AJ, Ormond KE, Paneque M, Powell K, Sanghavi K, Scotcher D, Scott J, Juhé CS, Shkedi-Rafid S, Wessels TM, Yoon SY, Wicklund C. Abacan M, et al. Among authors: lodahl m. Eur J Hum Genet. 2019 Feb;27(2):183-197. doi: 10.1038/s41431-018-0252-x. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291341 Free PMC article. Review.

4

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.

Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z. Schönewolf-Greulich B, et al. Among authors: lodahl m. Am J Med Genet A. 2011 Dec;155A(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052739

5

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L. Rendtorff ND, et al. Among authors: lodahl m. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. Am J Med Genet A. 2011. PMID: 21538838 Free PMC article.

6

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

Frykholm C, Klar J, Arnesson H, Rehnman AC, Lodahl M, Wedén U, Dahl N, Tranebjærg L, Rendtorff ND. Frykholm C, et al. Among authors: lodahl m. Gene. 2015 May 25;563(1):10-6. doi: 10.1016/j.gene.2015.02.022. Epub 2015 Feb 11. Gene. 2015. PMID: 25681523

7

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.

Homøe P, Koch A, Rendtorff ND, Lodahl M, Andersen T, Andersen S, Eiberg H, Nielsen IM, Tranebjærg L. Homøe P, et al. Among authors: lodahl m. Int J Audiol. 2012 Jun;51(6):433-6. doi: 10.3109/14992027.2012.660575. Epub 2012 Feb 27. Int J Audiol. 2012. PMID: 22369226

8

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

Rasmussen T, Haaber J, Dahl IM, Knudsen LM, Kerndrup GB, Lodahl M, Johnsen HE, Kuehl M. Rasmussen T, et al. Among authors: lodahl m. Haematologica. 2010 Oct;95(10):1730-7. doi: 10.3324/haematol.2010.024778. Epub 2010 May 29. Haematologica. 2010. PMID: 20511669 Free PMC article.

9

Identification of ID-1 as a potential target gene of MMSET in multiple myeloma.

Hudlebusch HR, Theilgaard-Mönch K, Lodahl M, Johnsen HE, Rasmussen T. Hudlebusch HR, et al. Among authors: lodahl m. Br J Haematol. 2005 Sep;130(5):700-8. doi: 10.1111/j.1365-2141.2005.05664.x. Br J Haematol. 2005. PMID: 16115125

10

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.

Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff ND, Olesen HV, Sommerlund M. Koppelhus U, et al. Among authors: lodahl m. Clin Exp Dermatol. 2011 Mar;36(2):142-8. doi: 10.1111/j.1365-2230.2010.03936.x. Epub 2010 Sep 16. Clin Exp Dermatol. 2011. PMID: 20846357

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