Ludwine Messiaen mainly investigates Genetics, Mutation, Exon, Neurofibromatosis and Gene. Ludwine Messiaen regularly links together related areas like Molecular biology in her Genetics studies. Her study in Molecular biology is interdisciplinary in nature, drawing from both Multiplex ligation-dependent probe amplification, Frameshift mutation and Breakpoint.
Her work deals with themes such as Carcinogenesis, Forkhead box L2, Blepharophimosis and Neurofibroma, which intersect with Mutation. Her Exon study incorporates themes from Open reading frame, Polymerase chain reaction and Mutation. Her research investigates the connection with Neurofibromatosis and areas like Legius syndrome which intersect with concerns in Phenotype.
Genetics, Neurofibromatosis, Gene, Pathology and Molecular biology are her primary areas of study. Her study in Mutation, Exon, Breakpoint, Missense mutation and Germline mutation is carried out as part of her studies in Genetics. Her Mutation research is multidisciplinary, incorporating perspectives in Neurofibromin 1 and Somatic cell.
Her Germline mutation study combines topics from a wide range of disciplines, such as Germline and Loss of heterozygosity. As a part of the same scientific family, Ludwine Messiaen mostly works in the field of Neurofibromatosis, focusing on Legius syndrome and, on occasion, Macrocephaly. Her specific area of interest is Gene, where Ludwine Messiaen studies Mutation testing.
Her primary scientific interests are in Neurofibromatosis, Genetics, Legius syndrome, Gene and Missense mutation. Her Neurofibromatosis research is multidisciplinary, relying on both Germline mutation, Pediatrics and Internal medicine. In general Genetics study, her work on Mutation, Copy-number variation and Neurofibromin 1 often relates to the realm of PRDM9 and Non-allelic homologous recombination, thereby connecting several areas of interest.
Her Legius syndrome research includes elements of Differential diagnosis, Dermatology and Noonan syndrome. In the subject of general Gene, her work in Genotype phenotype, Clinical phenotype and Allele is often linked to Correlation and Frame, thereby combining diverse domains of study. Her Missense mutation research integrates issues from EVH1 domain, Proband, Pulmonic stenosis, Spinal neurofibromas and Neurofibromatosis type I.
Her primary areas of study are Genetics, Neurofibromatosis, Missense mutation, Mutation and Neurofibromin 1. The study incorporates disciplines such as Germline mutation, Legius syndrome and Internal medicine, Noonan syndrome in addition to Neurofibromatosis. Her research in Noonan syndrome intersects with topics in Clinical phenotype, Gene and Neurofibroma.
Her biological study spans a wide range of topics, including Genetic disorder, Proband, Pulmonic stenosis, Spinal neurofibromas and Neurofibromatosis type I. Her Mutation research incorporates themes from Transcriptional regulation, HEK 293 cells, Haploinsufficiency, Cullin and Cell biology. The various areas that Ludwine Messiaen examines in her Neurofibromin 1 study include Cancer research, Genetically engineered, Disease, Loss of heterozygosity and Kinase.
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.
Human Mutation (2000)
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Hilde Brems;Magdalena Chmara;Magdalena Chmara;Mourad Sahbatou;Ellen Denayer.
Nature Genetics (2007)
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.
American Journal of Human Genetics (2007)
Evolution and expression of FOXL2
J Cocquet;E Pailhoux;F Jaubert;N Servel.
Journal of Medical Genetics (2002)
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.
Human Molecular Genetics (2001)
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
Elfride De Baere;Diane Beysen;Christine Oley;Birgit Lorenz.
American Journal of Human Genetics (2003)
Elucidating distinct roles for NF1 in melanomagenesis.
Ophélia Maertens;Bryan Johnson;Bryan Johnson;Pablo Hollstein;Pablo Hollstein;Dennie T. Frederick.
Cancer Discovery (2013)
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
Ophélia Maertens;Hans Prenen;Maria Debiec-Rychter;Agnieszka Wozniak.
Human Molecular Genetics (2006)
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.
Nature Genetics (2014)
Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Jill Yardley;Bart P Leroy;Niki Hart-Holden;Bart A Lafaut.
Investigative Ophthalmology & Visual Science (2004)
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