Eric Pasmant

Summary

Country: France

Publications

  1. doi Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    Eur J Hum Genet 16:1459-66. 2008
  2. ncbi SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
    E Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    J Med Genet 46:425-30. 2009
  3. pmc Detection and characterization of NF1 microdeletions by custom high resolution array CGH
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, 4 avenue de l Observatoire, 75006 Paris, France
    J Mol Diagn 11:524-9. 2009
  4. doi Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    J Neuropathol Exp Neurol 69:60-9. 2010
  5. ncbi NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, 4 av de l Observatoire, 75006, Paris, France
    Hum Mutat 31:E1506-18. 2010
  6. doi Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Sorbonne Paris Cité, Faculte des Sciences Pharmaceutiques et Biologiques, 4 avenue de l Observatoire, Paris, France
    J Natl Cancer Inst 103:1713-22. 2011
  7. pmc Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients
    Eric Pasmant
    Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    Mol Med 17:79-87. 2011
  8. ncbi NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience
    Audrey Sabbagh
    UMR745 INSERM, PRES Sorbonne Paris Cité, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France IRD, UMR216, Mère et Enfant Face aux Infections Tropicales, Paris, France PRES Sorbonne Paris Cité, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    Hum Mutat 34:1510-8. 2013
  9. pmc Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
    Audrey Sabbagh
    Faculte des Sciences Pharmaceutiques et Biologiques, UMR745 INSERM, Universite Paris Descartes, Paris 75006, France
    Hum Mol Genet 18:2768-78. 2009
  10. doi Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma
    Nelly Burnichon
    INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France
    Hum Mol Genet 21:5397-405. 2012

Detail Information

Publications17

  1. doi Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    Eur J Hum Genet 16:1459-66. 2008
    ..This transcript, and/or haploinsufficiency of one or several deleted genes, could explain the clinical severity of the syndrome in this patient...
  2. ncbi SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
    E Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    J Med Genet 46:425-30. 2009
    ....
  3. pmc Detection and characterization of NF1 microdeletions by custom high resolution array CGH
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, 4 avenue de l Observatoire, 75006 Paris, France
    J Mol Diagn 11:524-9. 2009
    ....
  4. doi Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    J Neuropathol Exp Neurol 69:60-9. 2010
    ..Some of the genes identified, particularly CCN1, might be useful diagnostic or prognostic markers or form the basis for novel therapeutic strategies...
  5. ncbi NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, 4 av de l Observatoire, 75006, Paris, France
    Hum Mutat 31:E1506-18. 2010
    ..High-resolution array-CGH identified a new recurrent approximately 1.0 Mb microdeletion type, designated as type-3, with breakpoints in the paralogous regions middle NF1-REP-b and distal NF1-REP-c...
  6. doi Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Sorbonne Paris Cité, Faculte des Sciences Pharmaceutiques et Biologiques, 4 avenue de l Observatoire, Paris, France
    J Natl Cancer Inst 103:1713-22. 2011
    ..Genetic factors unrelated to the NF1 locus are thought to influence the number of plexiform neurofibromas (PNFs) in patients with NF1, but no factors have been identified to date...
  7. pmc Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients
    Eric Pasmant
    Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    Mol Med 17:79-87. 2011
    ..This study points to the involvement of several genes (particularly RNF135 and CENTA2) in the increased risk of malignancy observed in NF1-microdeleted patients...
  8. ncbi NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience
    Audrey Sabbagh
    UMR745 INSERM, PRES Sorbonne Paris Cité, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France IRD, UMR216, Mère et Enfant Face aux Infections Tropicales, Paris, France PRES Sorbonne Paris Cité, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    Hum Mutat 34:1510-8. 2013
    ..The association analysis of these mutation types with 12 common NF1 clinical features confirmed a weak contribution of the allelic heterogeneity of the NF1 mutation to the NF1 variable expressivity. ..
  9. pmc Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
    Audrey Sabbagh
    Faculte des Sciences Pharmaceutiques et Biologiques, UMR745 INSERM, Universite Paris Descartes, Paris 75006, France
    Hum Mol Genet 18:2768-78. 2009
    ..Taken together, our results provided evidence that genetic modifiers, unlinked to the NF1 locus, contribute to the variable expressivity of the disease...
  10. doi Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma
    Nelly Burnichon
    INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France
    Hum Mol Genet 21:5397-405. 2012
    ..These new findings suggest that NF1 loss of function is a frequent event in the tumorigenesis of sporadic pheochromocytoma and strengthen the new concept of molecular-based targeted therapy for pheochromocytoma or paraganglioma...
  11. pmc MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis
    Julien Masliah-Planchon
    UMR745 INSERM, Universite Paris Descartes, Sorbonne Paris Cité, Faculte des Sciences Pharmaceutiques et Biologiques, 4 avenue de l Observatoire, 75006 Paris, France
    BMC Genomics 14:473. 2013
    ..The hallmarks of NF1 are the development of peripheral nerve sheath tumors either benign (dermal and plexiform neurofibromas) or malignant (MPNSTs)...
  12. doi Neurofibromatosis type 1: from genotype to phenotype
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Sorbonne Paris Cité, Faculte des Sciences Pharmaceutiques et Biologiques, 4 avenue de l Observatoire, Paris 75006, France
    J Med Genet 49:483-9. 2012
    ..This phenotypic variability may be due to both modifier genes and environmental factors. Recent targeted strategies have identified several interesting candidate modifier genes...
  13. doi Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family
    Eric Pasmant
    Service de Biochimie et de Génétique Moléculaire, Hopital Cochin AP HP, Paris, UMR745 INSERM, Universite Paris Descartes, Sorbonne Paris Cité, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    Am J Med Genet A 158:2290-1. 2012
    ..Both de novo mutations were potentially of paternal origin, given the advanced paternal age at the time of conception...
  14. doi Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, 75006 Paris, France
    J Neurooncol 102:341-6. 2011
    ..As NF1 patients with such germline NF1 deletions do exhibit increased risk of developing MPNST, these present findings emphasize the likely role of at least some of these NF1 flanking genes in MPNST pathobiology...
  15. doi ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, 4 avenue de l Observatoire, 75006, Paris, France
    FASEB J 25:444-8. 2011
    ..Many GWAS have identified trait-associated SNPs that felt in noncoding genomic regions. It is conceivable to anticipate that long, noncoding RNAs will map to many of these "gene deserts."..
  16. pmc Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome
    Caroline Nava
    Department of Genetics, AP HP, Hopital Robert Debre, Paris, France
    J Med Genet 44:763-71. 2007
    ..Although some associated features appear to be characteristic of a specific gene, no simple rule exists to distinguish NS from CFC easily...
  17. pmc First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis
    Eric Pasmant
    Service de Biochimie et de Génétique Moléculaire, Hopital Beaujon, Clichy, France
    Eur J Hum Genet 20:277-82. 2012
    ..Further comparative studies of patients with well-characterized genotypes (including deletions) and phenotypes will help determine whether ABCB4 mutation types influence clinical outcomes...