Møller LB - Search Results

1

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Among authors: moller lb. Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2. Sci Rep. 2019. PMID: 30718709 Free PMC article.

2

Mutation spectrum of ATP7A, the gene defective in Menkes disease.

Tümer Z, Møller LB, Horn N. Tümer Z, et al. Among authors: moller lb. Adv Exp Med Biol. 1999;448:83-95. doi: 10.1007/978-1-4615-4859-1_7. Adv Exp Med Biol. 1999. PMID: 10079817 Review.

3

Møller LB, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N. Møller LB, et al. Am J Hum Genet. 2000 Apr;66(4):1211-20. doi: 10.1086/302857. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739752 Free PMC article.

4

X-linked recessive Menkes disease: identification of partial gene deletions in affected males.

Poulsen L, Horn N, Heilstrup H, Lund C, Tümer Z, Møller LB. Poulsen L, et al. Among authors: moller lb. Clin Genet. 2002 Dec;62(6):449-57. doi: 10.1034/j.1399-0004.2002.620605.x. Clin Genet. 2002. PMID: 12485192

5

X-linked Menkes disease: first documented report of germ-line mosaicism.

Poulsen L, Møller LB, Plunkett K, Belmont J, Tümer Z, Horn N. Poulsen L, et al. Among authors: moller lb. Genet Test. 2004 Fall;8(3):286-91. doi: 10.1089/gte.2004.8.286. Genet Test. 2004. PMID: 15727253

6

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

Møller LB, Bukrinsky JT, Mølgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N. Møller LB, et al. Hum Mutat. 2005 Aug;26(2):84-93. doi: 10.1002/humu.20190. Hum Mutat. 2005. PMID: 15981243

7

Menkes disease.

Tümer Z, Møller LB. Tümer Z, et al. Among authors: moller lb. Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888294 Free PMC article. Review.

8

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Dad S, Østergaard E, Thykjaer T, Albrectsen A, Ravn K, Rosenberg T, Møller LB. Dad S, et al. Among authors: moller lb. Clin Genet. 2010 Oct;78(4):388-97. doi: 10.1111/j.1399-0004.2010.01393.x. Clin Genet. 2010. PMID: 20236115

9

Splice site mutations in the ATP7A gene.

Skjørringe T, Tümer Z, Møller LB. Skjørringe T, et al. Among authors: moller lb. PLoS One. 2011 Apr 11;6(4):e18599. doi: 10.1371/journal.pone.0018599. PLoS One. 2011. PMID: 21494555 Free PMC article.

10

Clinical expression of Menkes disease in females with normal karyotype.

Møller LB, Lenartowicz M, Zabot MT, Josiane A, Burglen L, Bennett C, Riconda D, Fisher R, Janssens S, Mohammed S, Ausems M, Tümer Z, Horn N, Jensen TG. Møller LB, et al. Orphanet J Rare Dis. 2012 Jan 22;7:6. doi: 10.1186/1750-1172-7-6. Orphanet J Rare Dis. 2012. PMID: 22264391 Free PMC article.

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