עקוב אחר
Ludwine Messiaen
Ludwine Messiaen
Professor Genetics
כתובת אימייל מאומתת בדומיין uabmc.edu
כותרת
צוטט על ידי
צוטט על ידי
שנה
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
6432000
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
5082007
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
3912021
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
3322002
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
3202001
Elucidating Distinct Roles for NF1 in Melanomagenesis
O Maertens, B Johnson, P Hollstein, DT Frederick, ZA Cooper, ...
Cancer discovery 3 (3), 338-349, 2013
3012013
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
2932003
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
2772006
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
2702014
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
2612004
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
2272010
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
2162009
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
1962018
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
1922013
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
1902015
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
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
1772009
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
1762006
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
המערכת אינה יכולה לבצע את הפעולה כעת. נסה שוב מאוחר יותר.
מאמרים 1–20