Messiaen LM - Search Results

1

Re-evaluation of missense variant classifications in NF2.

Sadler KV, Rowlands CF, Smith PT, Hartley CL, Bowers NL, Roberts NY, Harris JL, Wallace AJ, Evans DG, Messiaen LM, Smith MJ. Sadler KV, et al. Among authors: messiaen lm. Hum Mutat. 2022 May;43(5):643-654. doi: 10.1002/humu.24370. Epub 2022 Apr 2. Hum Mutat. 2022. PMID: 35332608 Free PMC article.

2

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. Messiaen LM, et al. Hum Mutat. 2000;15(6):541-55. doi: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10862084

3

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K. Zatkova A, et al. Hum Mutat. 2004 Dec;24(6):491-501. doi: 10.1002/humu.20103. Hum Mutat. 2004. PMID: 15523642

4

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.

5

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.

Ganster C, Wernstedt A, Kehrer-Sawatzki H, Messiaen L, Schmidt K, Rahner N, Heinimann K, Fonatsch C, Zschocke J, Wimmer K. Ganster C, et al. Hum Mutat. 2010 May;31(5):552-60. doi: 10.1002/humu.21223. Hum Mutat. 2010. PMID: 20186689 Free PMC article.

6

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).

Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H. Messiaen L, et al. Hum Mutat. 2011 Feb;32(2):213-9. doi: 10.1002/humu.21418. Hum Mutat. 2011. PMID: 21280148

7

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L. Brems H, et al. Hum Mutat. 2012 Nov;33(11):1538-46. doi: 10.1002/humu.22152. Epub 2012 Aug 1. Hum Mutat. 2012. PMID: 22753041 Review.

8

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.

Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H. Bengesser K, et al. Hum Mutat. 2014 Feb;35(2):215-26. doi: 10.1002/humu.22473. Epub 2013 Dec 2. Hum Mutat. 2014. PMID: 24186807

9

Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene.

Hsiao MC, Piotrowski A, Alexander J, Callens T, Fu C, Mikhail FM, Claes KB, Messiaen L. Hsiao MC, et al. Hum Mutat. 2014 Jul;35(7):891-8. doi: 10.1002/humu.22569. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24760680

10

Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.

Kehrer-Sawatzki H, Bengesser K, Callens T, Mikhail F, Fu C, Hillmer M, Walker ME, Saal HM, Lacassie Y, Cooper DN, Messiaen L. Kehrer-Sawatzki H, et al. Hum Mutat. 2014 Dec;35(12):1469-75. doi: 10.1002/humu.22692. Hum Mutat. 2014. PMID: 25205021

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