| Year |
Citation |
Score |
| 2023 |
Pacot L, Masliah-Planchon J, Petcu A, Terris B, Gauthier Villars M, Lespinasse J, Wolkenstein P, Vincent-Salomon A, Vidaud D, Pasmant E. Breast cancer risk in -deleted patients. Journal of Medical Genetics. PMID 38154814 DOI: 10.1136/jmg-2023-109682 |
0.515 |
|
| 2023 |
Pacot L, Ye M, Nectoux J, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Orhant L, Vaucouleur N, Blanché H, Parfait B, Wolkenstein P, Vidaud M, Vidaud D, et al. Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions. The Journal of Molecular Diagnostics : Jmd. PMID 38008284 DOI: 10.1016/j.jmoldx.2023.11.005 |
0.691 |
|
| 2023 |
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, Bacq-Daian D, Laurendeau I, Briand-Suleau A, Deleuze JF, Margueron R, Vidaud M, Ferkal S, Parfait B, Vidaud D, et al. Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients. The British Journal of Dermatology. PMID 37831592 DOI: 10.1093/bjd/ljad390 |
0.638 |
|
| 2023 |
Guerrini-Rousseau L, Pasmant E, Muleris M, Abbou S, Adam-De-Beaumais T, Brugieres L, Cabaret O, Colas C, Cotteret S, Decq P, Dufour C, Guillerm E, Rouleau E, Varlet P, Zili S, ... Vidaud D, et al. Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency. Journal of Medical Genetics. PMID 37775264 DOI: 10.1136/jmg-2023-109235 |
0.669 |
|
| 2023 |
Pacot L, Chansavang A, Jacques S, Laurendeau I, Hadjadj D, Ferkal S, Wolkenstein P, Vidaud D, Pasmant E. Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1. European Journal of Human Genetics : Ejhg. PMID 36732663 DOI: 10.1038/s41431-023-01304-0 |
0.639 |
|
| 2022 |
Pacot L, Pelletier V, Chansavang A, Briand-Suleau A, Burin des Roziers C, Coustier A, Maillard T, Vaucouleur N, Orhant L, Barbance C, Lermine A, Hamzaoui N, Hadjadj D, Laurendeau I, El Khattabi L, ... ... Vidaud D, et al. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1. Human Genetics. PMID 35941319 DOI: 10.1007/s00439-022-02476-3 |
0.675 |
|
| 2021 |
Forde C, Burkitt-Wright E, Turnpenny PD, Haan E, Ealing J, Mansour S, Holder M, Lahiri N, Dixit A, Procter A, Pacot L, Vidaud D, Capri Y, Gerard M, Dollfus H, et al. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. European Journal of Human Genetics : Ejhg. PMID 34897289 DOI: 10.1038/s41431-021-01015-4 |
0.657 |
|
| 2021 |
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, et al. Severe Phenotype in Patients with Large Deletions of . Cancers. 13. PMID 34199217 DOI: 10.3390/cancers13122963 |
0.677 |
|
| 2020 |
Lobón-Iglesias MJ, Laurendeau I, Guerrini-Rousseau L, Tauziède-Espariat A, Briand-Suleau A, Varlet P, Vidaud D, Vidaud M, Brugieres L, Grill J, Pasmant E. NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation. Neuro-Oncology Advances. 2: i98-i106. PMID 32642735 DOI: 10.1093/noajnl/vdz054 |
0.66 |
|
| 2019 |
Pacot L, Burin des Roziers C, Laurendeau I, Briand-Suleau A, Coustier A, Mayard T, Tlemsani C, Faivre L, Thomas Q, Rodriguez D, Blesson S, Dollfus H, Muller YG, Parfait B, Vidaud M, ... ... Vidaud D, et al. One Mutation may Conceal Another. Genes. 10. PMID 31443423 DOI: 10.3390/Genes10090633 |
0.699 |
|
| 2019 |
Tlemsani C, Pécuchet N, Gruber A, Laurendeau I, Danel C, Riquet M, Le Pimpec-Barthes F, Fabre E, Mansuet-Lupo A, Damotte D, Alifano M, Luscan A, Rousseau B, Vidaud D, Varin J, et al. NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas. Cancer Medicine. PMID 31199580 DOI: 10.1002/Cam4.2175 |
0.696 |
|
| 2019 |
Sabbagh A, Pacot L, Parfait B, Boland-Auge A, Bacq-Daian D, Laurendeau I, Ferkal S, Briand A, Allanore L, Deleuze J, Vidaud M, Vidaud D, Pasmant E, Wolkenstein P. La première étude d’association génome entier dans la neurofibromatose de type 1 : vers l’identification des modificateurs génétiques de l’expression clinique de la maladie Annales De Dermatologie Et De VéNéRéOlogie. 146: A111-A112. DOI: 10.1016/J.Annder.2019.09.121 |
0.623 |
|
| 2018 |
D'Angelo F, Ceccarelli M, Tala, Garofano L, Zhang J, Frattini V, Caruso FP, Lewis G, Alfaro KD, Bauchet L, Berzero G, Cachia D, Cangiano M, Capelle L, de Groot J, ... ... Vidaud D, et al. The molecular landscape of glioma in patients with Neurofibromatosis 1. Nature Medicine. PMID 30531922 DOI: 10.1038/S41591-018-0263-8 |
0.509 |
|
| 2018 |
Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, Girodon E, Vidaud D, Leturcq F, Costa C, Letourneur F, Anselem O, Tsatsaris V, Goffinet F, Viot G, et al. Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR. Clinical Chemistry and Laboratory Medicine. 56: 728-738. PMID 29613853 DOI: 10.1515/Cclm-2017-0689 |
0.346 |
|
| 2018 |
Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. Neuro-Oncology. PMID 29409008 DOI: 10.1093/Neuonc/Noy009 |
0.629 |
|
| 2018 |
Tlemsani C, Pecuchet N, Gruber A, Mansuet-Lupo A, Damotte D, Alifano M, Varin J, Laurendeau I, Luscan A, Rousseau B, Parfait B, Bieche I, Briand A, Terris B, Blons H, ... ... Vidaud D, et al. Abstract 5511: Characterization of molecular and functional consequences of somatic NF1 mutations in non-small cell lung cancers Cancer Research. 78: 5511-5511. DOI: 10.1158/1538-7445.Am2018-5511 |
0.479 |
|
| 2017 |
Remillieux M, Durand C, Sartelet H, Piolat C, Bourgeois E, Pommier P, Hameury F, Dieterich K, Vidaud D, Perret C. [Type 1 neurofibromatosis: Onset of two tumors before the age of 5years]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie. PMID 28870819 DOI: 10.1016/j.arcped.2017.08.009 |
0.307 |
|
| 2017 |
Sohier P, Luscan A, Lloyd A, Ashelford K, Laurendeau I, Briand-Suleau A, Vidaud D, Ortonne N, Pasmant E, Upadhyaya M. Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors. Genes, Chromosomes & Cancer. PMID 28124441 DOI: 10.1002/Gcc.22446 |
0.715 |
|
| 2017 |
Sabbagh A, Parfait B, Boland-Auge A, Bacq-Daian D, Ferkal S, Allanore L, Pasmant E, Deleuze J, Vidaud M, Vidaud D, Wolkenstein P. La première étude d’association génome entier dans la neurofibromatose de type 1 : vers l’identification de gènes modificateurs Annales De Dermatologie Et De VéNéRéOlogie. 144: S94. DOI: 10.1016/J.Annder.2017.09.101 |
0.599 |
|
| 2016 |
Gilbert-Dussardier B, Briand-Suleau A, Laurendeau I, Bilan F, Cavé H, Verloes A, Vidaud M, Vidaud D, Pasmant E. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities. Orphanet Journal of Rare Diseases. 11: 101. PMID 27450488 DOI: 10.1186/S13023-016-0479-Y |
0.68 |
|
| 2016 |
Pasmant E, Vidaud D. Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View. Ebiomedicine. 7: 21-2. PMID 27322453 DOI: 10.1016/J.Ebiom.2016.04.036 |
0.701 |
|
| 2016 |
Tlemsani C, Luscan A, Leulliot N, Bieth E, Afenjar A, Baujat G, Doco-Fenzy M, Goldenberg A, Lacombe D, Lambert L, Odent S, Pasche J, Sigaudy S, Buffet A, Violle-Poirsier C, ... ... Vidaud D, et al. SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. Journal of Medical Genetics. PMID 27317772 DOI: 10.1136/Jmedgenet-2015-103638 |
0.643 |
|
| 2015 |
Pasmant E, Vidaud D, Ballerini P. RAS MAPK inhibitors deregulation in leukemia. Oncoscience. 2: 930-1. PMID 26909356 DOI: 10.18632/oncoscience.274 |
0.506 |
|
| 2015 |
Caye A, Strullu M, Guidez F, Cassinat B, Gazal S, Fenneteau O, Lainey E, Nouri K, Nakhaei-Rad S, Dvorsky R, Lachenaud J, Pereira S, Vivent J, Verger E, Vidaud D, et al. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. Nature Genetics. 47: 1334-40. PMID 26457648 DOI: 10.1038/Ng.3420 |
0.366 |
|
| 2015 |
Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, ... ... Vidaud D, et al. Diagnosis of Constitutional Mismatch Repair-deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. Gastroenterology. PMID 26116798 DOI: 10.1053/J.Gastro.2015.06.013 |
0.402 |
|
| 2015 |
Pasmant E, Louvrier C, Luscan A, Cohen J, Laurendeau I, Vidaud M, Vidaud D, Goutagny S, Kalamarides M, Parfait B. Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. Neuro-Chirurgie. 64: 335-341. PMID 26073919 DOI: 10.1016/J.Neuchi.2015.01.004 |
0.71 |
|
| 2015 |
Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanne-Chantelot C, Vidaud D, Wolkenstein P, et al. NF1 single and multi-exons copy number variations in neurofibromatosis type 1. Journal of Human Genetics. 60: 221-4. PMID 25631097 DOI: 10.1038/Jhg.2015.6 |
0.724 |
|
| 2015 |
Pasmant E, Parfait B, Luscan A, Goussard P, Briand-Suleau A, Laurendeau I, Fouveaut C, Leroy C, Montadert A, Wolkenstein P, Vidaud M, Vidaud D. Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? European Journal of Human Genetics : Ejhg. 23: 596-601. PMID 25074460 DOI: 10.1038/Ejhg.2014.145 |
0.716 |
|
| 2015 |
Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, ... ... Vidaud D, et al. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia. Oncogene. 34: 631-8. PMID 24469042 DOI: 10.1038/Onc.2013.587 |
0.682 |
|
| 2015 |
Sbidian E, Zehou O, Valeyrie-Allanore L, Viallette C, Ferkal S, Parfait B, Vidaud M, Vidaud D, Pasmant E, Sabbagh A, Wolkenstein P. Corrélation phénotype/génotype dans la neurofibromatose 1 : apport d’une classification phénotypique sans hypothèse a priori Annales De Dermatologie Et De VéNéRéOlogie. 142: S426. DOI: 10.1016/J.Annder.2015.10.014 |
0.638 |
|
| 2014 |
Van-Gils J, Harambat J, Jubert C, Vidaud D, Llanas B, Perel Y, Lacombe D, Goizet C. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link? European Journal of Medical Genetics. 57: 639-42. PMID 25234363 DOI: 10.1016/J.Ejmg.2014.09.001 |
0.489 |
|
| 2014 |
Luscan A, Vidaud D, Ortonne N, Wolkenstein P, Vidaud M, Pasmant E. [PRC2 alterations in NF1-associated malignant peripheral nerve sheath tumors: schwann cells with no complex]. Medecine Sciences : M/S. 30: 733-5. PMID 25174745 DOI: 10.1051/Medsci/20143008006 |
0.634 |
|
| 2014 |
Luscan A, Shackleford G, Masliah-Planchon J, Laurendeau I, Ortonne N, Varin J, Lallemand F, Leroy K, Dumaine V, Hivelin M, Borderie D, De Raedt T, Valeyrie-Allanore L, Larousserie F, Terris B, ... ... Vidaud D, et al. The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 20: 358-71. PMID 24218515 DOI: 10.1158/1078-0432.Ccr-13-0780 |
0.641 |
|
| 2013 |
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Human Mutation. 34: 1510-8. PMID 23913538 DOI: 10.1002/Humu.22392 |
0.72 |
|
| 2013 |
Masliah-Planchon J, Pasmant E, Luscan A, Laurendeau I, Ortonne N, Hivelin M, Varin J, Valeyrie-Allanore L, Dumaine V, Lantieri L, Leroy K, Parfait B, Wolkenstein P, Vidaud M, Vidaud D, et al. MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis. Bmc Genomics. 14: 473. PMID 23848554 DOI: 10.1186/1471-2164-14-473 |
0.671 |
|
| 2013 |
Pasmant E, Luscan A, Varin J, Laurendeau I, Parfait B, Vidaud D. Relevance of MPNST cell lines as models for NF1 associated-tumors. Journal of Neuro-Oncology. 114: 353-5. PMID 23807074 DOI: 10.1007/S11060-013-1185-4 |
0.628 |
|
| 2013 |
Santoro C, Malan V, Bertoli M, Boddaert N, Vidaud D, Lyonnet S. Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009. Clinical Dysmorphology. 22: 42-3. PMID 23207425 DOI: 10.1097/Mcd.0B013E32835B8Ea4 |
0.389 |
|
| 2012 |
Burnichon N, Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, Favier J, Gimenez-Roqueplo AP. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Human Molecular Genetics. 21: 5397-405. PMID 22962301 DOI: 10.1093/Hmg/Dds374 |
0.718 |
|
| 2012 |
Pasmant E, Vidaud M, Vidaud D, Wolkenstein P. Neurofibromatosis type 1: from genotype to phenotype. Journal of Medical Genetics. 49: 483-9. PMID 22889851 DOI: 10.1136/Jmedgenet-2012-100978 |
0.722 |
|
| 2012 |
Pasmant E, Amiel J, Rodriguez D, Vidaud M, Vidaud D, Parfait B. Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. American Journal of Medical Genetics. Part A. 158: 2290-1. PMID 22847776 DOI: 10.1002/Ajmg.A.35496 |
0.703 |
|
| 2012 |
Pasmant E, Goussard P, Baranes L, Laurendeau I, Quentin S, Ponsot P, Consigny Y, Farges O, Condat B, Vidaud D, Vidaud M, Chen JM, Parfait B. First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. European Journal of Human Genetics : Ejhg. 20: 277-82. PMID 21989363 DOI: 10.1038/Ejhg.2011.186 |
0.668 |
|
| 2011 |
Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, Laurendeau I, Melin L, Ferkal S, Hernandez L, Leroy K, Valeyrie-Allanore L, Parfait B, Vidaud D, Bièche I, Lantieri L, Wolkenstein P, et al. Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. Journal of the National Cancer Institute. 103: 1713-22. PMID 22034633 DOI: 10.1093/Jnci/Djr416 |
0.686 |
|
| 2011 |
Carbonnelle-Puscian A, Vidal V, Laurendeau I, Valeyrie-Allanore L, Vidaud D, Bièche I, Leroy K, Lantieri L, Wolkenstein P, Schedl A, Ortonne N. SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog. Human Pathology. 42: 434-43. PMID 21193222 DOI: 10.1016/J.Humpath.2010.02.020 |
0.346 |
|
| 2011 |
Pasmant E, Masliah-Planchon J, Lévy P, Laurendeau I, Ortonne N, Parfait B, Valeyrie-Allanore L, Leroy K, Wolkenstein P, Vidaud M, Vidaud D, Bièche I. Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients. Molecular Medicine (Cambridge, Mass.). 17: 79-87. PMID 20844836 DOI: 10.2119/Molmed.2010.00079 |
0.69 |
|
| 2011 |
Pasmant E, Vidaud D, Harrison M, Upadhyaya M. Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors Journal of Neuro-Oncology. 102: 341-346. PMID 20686819 DOI: 10.1007/S11060-010-0328-0 |
0.72 |
|
| 2010 |
Pasmant E, Laurendeau I, Sabbagh A, Parfait B, Vidaud M, Vidaud D, Bièche I. [The amazing story of ANRIL, a long non-coding RNA]. Medecine Sciences : M/S. 26: 564-6. PMID 20619150 DOI: 10.1051/Medsci/2010266-7564 |
0.535 |
|
| 2010 |
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, ... ... Vidaud D, et al. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Human Mutation. 31: E1506-18. PMID 20513137 DOI: 10.1002/Humu.21271 |
0.726 |
|
| 2010 |
Pasmant E, Ortonne N, Rittié L, Laurendeau I, Lévy P, Lazar V, Parfait B, Leroy K, Dessen P, Valeyrie-Allanore L, Perbal B, Wolkenstein P, Vidaud M, Vidaud D, Bièche I. Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis. Journal of Neuropathology and Experimental Neurology. 69: 60-9. PMID 20010302 DOI: 10.1097/Nen.0B013E3181C79Bff |
0.679 |
|
| 2009 |
Pasmant E, Sabbagh A, Masliah-Planchon J, Haddad V, Hamel MJ, Laurendeau I, Soulier J, Parfait B, Wolkenstein P, Bièche I, Vidaud M, Vidaud D. Detection and characterization of NF1 microdeletions by custom high resolution array CGH Journal of Molecular Diagnostics. 11: 524-529. PMID 19767589 DOI: 10.2353/Jmoldx.2009.090064 |
0.691 |
|
| 2009 |
Pasmant E, Ballerini P, Lapillonne H, Perot C, Vidaud D, Leverger G, Landman-Parker J. SPRED1 disorder and predisposition to leukemia in children. Blood. 114: 1131. PMID 19643996 DOI: 10.1182/Blood-2009-04-218503 |
0.59 |
|
| 2009 |
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Human Molecular Genetics. 18: 2768-78. PMID 19417008 DOI: 10.1093/Hmg/Ddp212 |
0.675 |
|
| 2009 |
Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, et al. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. Journal of Medical Genetics. 46: 425-30. PMID 19366998 DOI: 10.1136/Jmg.2008.065243 |
0.703 |
|
| 2009 |
Hammel P, Soufir N, Lévy P, Colas C, Coulet F, Guého A, Riffaut A, Maire F, Rebours V, Hentic-Dhomé O, Aubert A, Soubrier F, Grandchamp B, Vidaud D, Guého A, et al. CO.61 Cancer du pancréas familial (CaPaFa) : prévalence des mutations des gènes CDKN2A, CDK4 et BRCA2 et résultats préliminaires du dépistage par imagerie des sujets apparentés GastroentéRologie Clinique Et Biologique. 33: A127. DOI: 10.1016/S0399-8320(09)72849-0 |
0.307 |
|
| 2008 |
Asselah T, Bièche I, Laurendeau I, Martinot-Peignoux M, Paradis V, Vidaud D, Valla DC, Bedossa P, Marcellin P, Vidaud M. Significant gene expression differences in histologically "Normal" liver biopsies: Implications for control tissue. Hepatology (Baltimore, Md.). 48: 953-62. PMID 18726958 DOI: 10.1002/Hep.22411 |
0.316 |
|
| 2008 |
Pasmant E, de Saint-Trivier A, Laurendeau I, Dieux-Coeslier A, Parfait B, Vidaud M, Vidaud D, Bièche I. Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient. European Journal of Human Genetics : Ejhg. 16: 1459-66. PMID 18648396 DOI: 10.1038/Ejhg.2008.134 |
0.669 |
|
| 2008 |
Nahon P, Sutton A, Rufat P, Ziol M, Thabut G, Schischmanoff PO, Vidaud D, Charnaux N, Couvert P, Ganne-Carrie N, Trinchet JC, Gattegno L, Beaugrand M. Liver iron, HFE gene mutations, and hepatocellular carcinoma occurrence in patients with cirrhosis. Gastroenterology. 134: 102-10. PMID 18061182 DOI: 10.1053/J.Gastro.2007.10.038 |
0.301 |
|
| 2007 |
Pasmant E, Laurendeau I, Héron D, Vidaud M, Vidaud D, Bièche I. Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. Cancer Research. 67: 3963-9. PMID 17440112 DOI: 10.1158/0008-5472.Can-06-2004 |
0.626 |
|
| 2007 |
Lévy P, Ripoche H, Laurendeau I, Lazar V, Ortonne N, Parfait B, Leroy K, Wechsler J, Salmon I, Wolkenstein P, Dessen P, Vidaud M, Vidaud D, Bièche I. Microarray-based identification of tenascin C and tenascin XB, genes possibly involved in tumorigenesis associated with neurofibromatosis type 1. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 13: 398-407. PMID 17202312 DOI: 10.1158/1078-0432.Ccr-06-0182 |
0.463 |
|
| 2005 |
Hanna N, Parfait B, Vidaud D, Vidaud M. [Mutation mechanisms and their consequences]. Medecine Sciences : M/S. 21: 969-80. PMID 16274649 DOI: 10.1051/Medsci/20052111969 |
0.391 |
|
| 2005 |
Lee WH, Raas-Rotschild A, Miteva MA, Bolasco G, Rein A, Gillis D, Vidaud D, Vidaud M, Villoutreix BO, Parfait B. Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications. Proteins. 58: 7-13. PMID 15521065 DOI: 10.1002/Prot.20296 |
0.319 |
|
| 2005 |
Bellanne-chantelot C, Parfait B, Pinson S, Leroy G, Goussard P, Blachier C, Rodriguez D, Barbarot S, Combemale P, Guillot B, Vidaud D, Wolkenstein P. C31 - Analyse mutationnelle exhaustive du gène NF1 : étude de 162 malades non apparentés Annales De Dermatologie Et De Venereologie. 132: 21. DOI: 10.1016/S0151-9638(05)79652-6 |
0.353 |
|
| 2004 |
Lévy P, Vidaud D, Leroy K, Laurendeau I, Wechsler J, Bolasco G, Parfait B, Wolkenstein P, Vidaud M, Bièche I. Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR. Molecular Cancer. 3: 20. PMID 15255999 DOI: 10.1186/1476-4598-3-20 |
0.417 |
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| 2004 |
Lévy P, Bièche I, Leroy K, Parfait B, Wechsler J, Laurendeau I, Wolkenstein P, Vidaud M, Vidaud D. Molecular profiles of neurofibromatosis type 1-associated plexiform neurofibromas: identification of a gene expression signature of poor prognosis. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 10: 3763-71. PMID 15173083 DOI: 10.1158/1078-0432.Ccr-03-0712 |
0.491 |
|
| 2003 |
Keyeux G, Rodas C, Bienvenu T, Garavito P, Vidaud D, Sanchez D, Kaplan JC, Aristizábal G. CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs. Human Mutation. 22: 259. PMID 12938099 DOI: 10.1002/Humu.9173 |
0.383 |
|
| 2003 |
Bièche I, Manceau V, Curmi PA, Laurendeau I, Lachkar S, Leroy K, Vidaud D, Sobel A, Maucuer A. Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human. Brain Research. Molecular Brain Research. 114: 55-64. PMID 12782393 DOI: 10.1016/S0169-328X(03)00132-3 |
0.351 |
|
| 2003 |
De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. Elevated risk for MPNST in NF1 microdeletion patients. American Journal of Human Genetics. 72: 1288-92. PMID 12660952 DOI: 10.1086/374821 |
0.463 |
|
| 2002 |
Bahuau M, Pelet A, Vidaud D, Lamireau T, LeBail B, Munnich A, Vidaud M, Lyonnet S, Lacombe D. GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. Journal of Medical Genetics. 38: 638-43. PMID 11565554 DOI: 10.1136/Jmg.38.9.638 |
0.47 |
|
| 2001 |
Fang LJ, Vidaud D, Vidaud M, Thirion JP. Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene Human Mutation. 18: 549-550. PMID 11748857 DOI: 10.1002/Humu.1241 |
0.45 |
|
| 2001 |
Fang LJ, Simard MJ, Vidaud D, Assouline B, Lemieux B, Vidaud M, Chabot B, Thirion JP. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition Journal of Molecular Biology. 307: 1261-1270. PMID 11292340 DOI: 10.1006/Jmbi.2001.4561 |
0.371 |
|
| 2001 |
Bièche I, Franc B, Vidaud D, Vidaud M, Lidereau R. Analyses of MYC, ERBB2, and CCND1 genes in benign and malignant thyroid follicular cell tumors by real-time polymerase chain reaction. Thyroid : Official Journal of the American Thyroid Association. 11: 147-52. PMID 11288983 DOI: 10.1089/105072501300042802 |
0.342 |
|
| 2000 |
Parfait B, Giovangrandi Y, Asheuer M, Laurendeau I, Olivi M, Vodovar N, Vidaud D, Vidaud M, Bièche I. Human TIP49b/RUVBL2 gene: genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3. Annales De Genetique. 43: 69-74. PMID 10998447 DOI: 10.1016/S0003-3995(00)01016-9 |
0.324 |
|
| 2000 |
Girodon-Boulandet E, Pantel J, Cazeneuve C, Gijn MV, Vidaud D, Lemay S, Martin J, Zeller J, Revuz J, Goossens M, Amselem S, Wolkenstein P. NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. Human Mutation. 16: 274-5. PMID 10980545 DOI: 10.1002/1098-1004(200009)16:3<274::Aid-Humu21>3.0.Co;2-F |
0.445 |
|
| 2000 |
Costa J, Vidaud D, Laurendeau I, Vidaud M, Fressinaud E, Moisan J, David A, Meyer D, Lavergne J. Somatic mosaicism and compound heterozygosity in female hemophilia B Blood. 96: 1585-1587. DOI: 10.1182/Blood.V96.4.1585 |
0.407 |
|
| 2000 |
Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M. Prenatal Detection by Real-Time Quantitative PCR and Characterization of a New CFTR Deletion, 3600+15kbdel5.3kb (or CFTRdele19) Clinical Chemistry. 46: 1417-1420. DOI: 10.1093/Clinchem/46.9.1417 |
0.341 |
|
| 1999 |
Bièche I, Onody P, Laurendeau I, Olivi M, Vidaud D, Lidereau R, Vidaud M. Real-Time Reverse Transcription-PCR Assay for Future Management of ERBB2-based Clinical Applications Clinical Chemistry. 45: 1148-1156. DOI: 10.1093/Clinchem/45.8.1148 |
0.322 |
|
| 1999 |
Laurendeau I, Bahuau M, Vodovar N, Larramendy C, Olivi M, Bieche I, Vidaud M, Vidaud D. TaqMan PCR-based Gene Dosage Assay for Predictive Testing in Individuals from a Cancer Family with INK4 Locus Haploinsufficiency Clinical Chemistry. 45: 982-986. DOI: 10.1093/Clinchem/45.7.982 |
0.356 |
|
| 1998 |
Bièche I, Olivi M, Champème MH, Vidaud D, Lidereau R, Vidaud M. Novel approach to quantitative polymerase chain reaction using real-time detection: application to the detection of gene amplification in breast cancer. International Journal of Cancer. 78: 661-6. PMID 9808539 DOI: 10.1002/(Sici)1097-0215(19981123)78:5<661::Aid-Ijc22>3.0.Co;2-I |
0.317 |
|
| 1998 |
Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Récan D, Lakhdar H, Vidaud M, Vidaud D. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. American Journal of Medical Genetics. 75: 265-72. PMID 9475595 DOI: 10.1002/(Sici)1096-8628(19980123)75:3<265::Aid-Ajmg8>3.0.Co;2-P |
0.535 |
|
| 1997 |
Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. American Journal of Medical Genetics. 66: 347-55. PMID 8985499 DOI: 10.1002/(Sici)1096-8628(19961218)66:3<347::Aid-Ajmg20>3.0.Co;2-L |
0.466 |
|
| 1997 |
Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivill X. Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Human Genetics. 98: 696-9. PMID 8931703 DOI: 10.1007/S004390050287 |
0.497 |
|
| 1996 |
Bretagne S, Assouline B, Vidaud D, Houin R, Vidaud M. Echinococcus multilocularis: microsatellite polymorphism in U1 snRNA genes. Experimental Parasitology. 82: 324-8. PMID 8631384 DOI: 10.1006/Expr.1996.0040 |
0.303 |
|
| 1995 |
Vidaud D. Molecular basis of neurofibromatosis type 1 in France: identification and characterization of mutations in the NF1 gene Journal of the European Academy of Dermatology and Venereology. 5: S54. DOI: 10.1016/0926-9959(95)95954-Y |
0.408 |
|
| 1994 |
Vidaud D, Vidaud M, Bahnak BR, Siguret V, Gispert Sanchez S, Laurian Y, Meyer D, Goossens M, Lavergne JM. Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene. European Journal of Human Genetics : Ejhg. 1: 30-6. PMID 8069649 DOI: 10.1159/000472385 |
0.305 |
|
| 1993 |
Vidaud D, Tartary M, Costa JM, Bahnak BR, Gispert-Sanchez S, Fressinaud E, Gazengel C, Meyer D, Goossens M, Lavergne JM. Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling. Human Genetics. 91: 241-4. PMID 8478007 DOI: 10.1007/Bf00218264 |
0.351 |
|
| 1989 |
Attree O, Vidaud D, Vidaud M, Amselem S, Lavergne JM, Goossens M. Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior. Genomics. 4: 266-72. PMID 2714791 DOI: 10.1016/0888-7543(89)90330-3 |
0.371 |
|
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