Ludwine Messiaen
Ludwine Messiaen
Professor Genetics
Verified email at uabmc.edu
TitleCited byYear
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
LM Messiaen, T Callens, G Mortier, D Beysen, I Vandenbroucke, ...
Human mutation 15 (6), 541-555, 2000
4812000
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype
H Brems, M Chmara, M Sahbatou, E Denayer, K Taniguchi, R Kato, ...
Nature genetics 39 (9), 1120, 2007
3892007
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 NF1á…
M Upadhyaya, SM Huson, M Davies, N Thomas, N Chuzhanova, ...
The American Journal of Human Genetics 80 (1), 140-151, 2007
2852007
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation
E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ...
Human molecular genetics 10 (15), 1591-1600, 2001
2752001
Evolution and expression of FOXL2
J Cocquet, E Pailhoux, F Jaubert, N Servel, X Xia, M Pannetier, ...
Journal of medical genetics 39 (12), 916-921, 2002
2652002
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
E De Baere, D Beysen, C Oley, B Lorenz, J Cocquet, P De Sutter, ...
The American Journal of Human Genetics 72 (2), 478-487, 2003
2492003
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
O Maertens, H Prenen, M Debiec-Rychter, A Wozniak, R Sciot, P Pauwels, ...
Human molecular genetics 15 (6), 1015-1023, 2006
2202006
Elucidating distinct roles for NF1 in melanomagenesis
O Maertens, B Johnson, P Hollstein, DT Frederick, ZA Cooper, ...
Cancer discovery 3 (3), 338-349, 2013
1792013
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, ...
Investigative ophthalmology & visual science 45 (10), 3683-3689, 2004
1702004
NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome
M H÷lzel, S Huang, J Koster, I ěra, A Lakeman, H Caron, W Nijkamp, ...
Cell 142 (2), 218-229, 2010
1662010
Clinical and mutational spectrum of neurofibromatosis type 1–like syndrome
L Messiaen, S Yao, H Brems, T Callens, A Sathienkijkanchai, E Denayer, ...
Jama 302 (19), 2111-2118, 2009
1502009
Quantification of splice variants using real-time PCR
II Vandenbroucke, J Vandesompele, AD Paepe, L Messiaen
Nucleic acids research 29 (13), e68-e68, 2001
1502001
Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition
A Baeyens, H Thierens, K Claes, B Poppe, L Messiaen, L De Ridder, ...
British journal of cancer 87 (12), 1379, 2002
1392002
Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis
LT McGillicuddy, JA Fromm, PE Hollstein, S Kubek, R Beroukhim, ...
Cancer cell 16 (1), 44-54, 2009
1382009
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
O Maertens, S De Schepper, J Vandesompele, H Brems, I Heyns, ...
The American Journal of Human Genetics 81 (2), 243-251, 2007
1382007
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
A Piotrowski, J Xie, YF Liu, AB Poplawski, AR Gomes, P Madanecki, C Fu, ...
Nature genetics 46 (2), 182, 2014
1372014
Double inactivation of NF1 in tibial pseudarthrosis
DA Stevenson, H Zhou, S Ashrafi, LM Messiaen, JC Carey, JL D’Astous, ...
The American journal of human genetics 79 (1), 143-148, 2006
1362006
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome
D Beysen, J Raes, BP Leroy, A Lucassen, JRW Yates, J Clayton-Smith, ...
The American Journal of Human Genetics 77 (2), 205-218, 2005
1352005
Spectrum of single‐and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
K Wimmer, S Yao, K Claes, H Kehrer‐Sawatzki, S Tinschert, T De Raedt, ...
Genes, Chromosomes and Cancer 45 (3), 265-276, 2006
1302006
Update from the 2011 International Schwannomatosis Workshop: from genetics to diagnostic criteria
SR Plotkin, JO Blakeley, DG Evans, CO Hanemann, TJM Hulsebos, ...
American Journal of Medical Genetics Part A 161 (3), 405-416, 2013
1182013
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