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Ludwine Messiaen
Ludwine Messiaen
Professor Genetics
Email verificata su uabmc.edu
Titolo
Citata da
Citata da
Anno
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
6352000
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), 1120-1126, 2007
4992007
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 …
M Upadhyaya, SM Huson, M Davies, N Thomas, N Chuzhanova, ...
The American Journal of Human Genetics 80 (1), 140-151, 2007
4152007
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
E Legius, L Messiaen, P Wolkenstein, P Pancza, RA Avery, Y Berman, ...
Genetics in Medicine 23 (8), 1506-1513, 2021
3682021
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
3302002
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
3172001
Elucidating Distinct Roles for NF1 in Melanomagenesis
O Maertens, B Johnson, P Hollstein, DT Frederick, ZA Cooper, ...
Cancer discovery 3 (3), 338-349, 2013
2992013
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
2912003
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
2742006
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), 182-187, 2014
2682014
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
2582004
NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome
M Hölzel, S Huang, J Koster, I Øra, A Lakeman, H Caron, W Nijkamp, ...
Cell 142 (2), 218-229, 2010
2252010
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
2152009
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ...
The American Journal of Human Genetics 102 (1), 69-87, 2018
1922018
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
1912013
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: genotype–phenotype …
K Rojnueangnit, J Xie, A Gomes, A Sharp, T Callens, Y Chen, Y Liu, ...
Human mutation 36 (11), 1052-1063, 2015
1882015
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
1782007
Quantification of splice variants using real-time PCR
II Vandenbroucke, J Vandesompele, AD Paepe, L Messiaen
Nucleic acids research 29 (13), e68-e68, 2001
1762001
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
1752009
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
1752006
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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