Ludwine Messiaen

Overview

Best Publications

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

  Ludwine M. Messiaen;Tom Callens;Geert Mortier;Diane Beysen

  614
  Citations

• Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

  Hilde Brems;Magdalena Chmara;Magdalena Chmara;Mourad Sahbatou;Ellen Denayer

  525
  Citations

• Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

  E Legius;L Messiaen;P Wolkenstein;P Pancza

  468
  Citations

• 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

  M. Upadhyaya;S. M. Huson;M. Davies;N. Thomas

  440
  Citations

• Evolution and expression of FOXL2

  J Cocquet;E Pailhoux;F Jaubert;N Servel

  327
  Citations

• Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

  Elfride De Baere;Michael J. Dixon;Kent W. Small;Ethylin W. Jabs

  326
  Citations

• FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

  Elfride De Baere;Diane Beysen;Christine Oley;Birgit Lorenz

  288
  Citations

• Elucidating distinct roles for NF1 in melanomagenesis.

  Ophélia Maertens;Bryan Johnson;Bryan Johnson;Pablo Hollstein;Pablo Hollstein;Dennie T. Frederick

  285
  Citations

• Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

  Arkadiusz Piotrowski;Arkadiusz Piotrowski;Jing Xie;Ying F Liu;Andrzej B Poplawski

  278
  Citations

• Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients

  Ophélia Maertens;Hans Prenen;Maria Debiec-Rychter;Agnieszka Wozniak

  263
  Citations

• Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

  Jill Yardley;Bart P Leroy;Niki Hart-Holden;Bart A Lafaut

  248
  Citations

• NF1 Is a Tumor Suppressor in Neuroblastoma that Determines Retinoic Acid Response and Disease Outcome

  Michael Hölzel;Sidong Huang;Jan Koster;Ingrid Øra

  218
  Citations

• Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

  Ludwine Messiaen;Suxia Yao;Hilde Brems;Tom Callens

  217
  Citations

• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

  Kitiwan Rojnueangnit;Kitiwan Rojnueangnit;Jing Xie;Alicia Gomes;Angela Sharp

  198
  Citations

• Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

  Magdalena Koczkowska;Yunjia Chen;Tom Callens;Alicia Gomes

  195
  Citations

• Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

  Scott Randall Plotkin;Jaishri O. Blakeley;D. Gareth Evans;C. Oliver Hanemann

  188
  Citations

• Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

  Ophélia Maertens;Sofie De Schepper;Jo Vandesompele;Hilde Brems

  181
  Citations

• Quantification of splice variants using real-time PCR

  Ina I. Vandenbroucke;Jo Vandesompele;Anne De Paepe;Ludwine Messiaen

  176
  Citations

• Proteasomal and Genetic Inactivation of the NF1 Tumor Suppressor in Gliomagenesis

  Lauren T. McGillicuddy;Lauren T. McGillicuddy;Jody A. Fromm;Jody A. Fromm;Pablo E. Hollstein;Pablo E. Hollstein;Sara Kubek

  175
  Citations

• Double Inactivation of NF1 in Tibial Pseudarthrosis

  David A. Stevenson;David A. Stevenson;Holly Zhou;Shadi Ashrafi;Ludwine M. Messiaen

  174
  Citations