Eric, Pasmant: search on Z-Library

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1

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

Sabbagh, Audrey, Pasmant, Eric, Imbard, Apolline, Luscan, Armelle, Soares, Magali, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanné-Chantelot, Christine,

Journal:

Year:

2013

Language:

english

File:

PDF, 668 KB

english, 2013

2

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population

Romanet, Pauline, Mohamed, Amira, Giraud, Sophie, Odou, Marie-Françoise, North, Marie-Odile, Pertuit, Morgane, Pasmant, Eric, Coppin, Lucie, Guien, Céline, Calender, Alain, Borson-Chazot, Françoise, B

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2019

Language:

english

File:

PDF, 1.03 MB

english, 2019

3

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 2.42 MB

english, 2016

4

Review and update of SPRED1 mutations causing legius syndrome

Hilde Brems, Eric Pasmant, Rick Van Minkelen, Katharina Wimmer, Meena Upadhyaya, Eric Legius, Ludwine Messiaen

Journal:

Year:

2012

Language:

english

File:

PDF, 333 KB

english, 2012

5

BRCA2 Loss-of-Function and High Sensitivity to Cisplatin-Based Chemotherapy in a Patient With a Pleomorphic Soft Tissue Sarcoma: Effect of Genomic Medicine

Tlemsani, Camille, Pasmant, Eric, Boudou-Rouquette, Pascaline, Bellesoeur, Audrey, Even, Julien, Larousserie, Frédérique, Reyes, Cécile, Gentien, David, Alexandre, Jérôme, Vidaud, Michel, Anract, Phil

Journal:

The American Journal of the Medical Sciences

Year:

2018

Language:

english

File:

PDF, 1.09 MB

english, 2018

6

Altérations du PRC2 au sein des tumeurs malignes associées à la neurofibromatose de type 1 : des cellules de Schwann sans aucun complexe !

Luscan, Armelle, Vidaud, Dominique, Ortonne, Nicolas, Wolkenstein, Pierre, Vidaud, Michel, Pasmant, Éric

Journal:

médecine/sciences

Year:

2014

Language:

french

File:

PDF, 655 KB

french, 2014

7

ANRIL ou l’étrange histoire d’un grand ARN non codant

Pasmant, Éric, Laurendeau, Ingrid, Sabbagh, Audrey, Parfait, Béatrice, Vidaud, Michel, Vidaud, Dominique, Bièche, Ivan

Journal:

médecine/sciences

Year:

2010

Language:

french

File:

PDF, 214 KB

french, 2010

8

Proteome analysis of formalin‐fixed paraffin‐embedded colorectal adenomas reveals the heterogeneous nature of traditional serrated adenomas compared to other colorectal adenomas

Sohier, Pierre, Sanson, Romain, Leduc, Marjorie, Audebourg, Anne, Broussard, Cédric, Salnot, Virginie, Just, Pierre‐Alexandre, Pasmant, Eric, Mayeux, Patrick, Guillonneau, François, Romagnolo, Béatric

Journal:

The Journal of Pathology

Year:

2019

Language:

english

File:

PDF, 3.60 MB

english, 2019

9

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Eric Pasmant, Audrey Sabbagh, Gill Spurlock, Ingrid Laurendeau, Elisa Grillo, Marie-José Hamel, Ludovic Martin, Sébastien Barbarot, Bruno Leheup, Diana Rodriguez, Didier Lacombe, Hélène Dollfus, Laure

Journal:

Year:

2010

File:

PDF, 197 KB

2010

10

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, Eric Pasmant, Armelle Luscan, Ingrid Laurendeau…

Journal:

Year:

2013

Language:

english

File:

PDF, 416 KB

english, 2013

11

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population

Romanet, Pauline, Mohamed, Amira, Giraud, Sophie, Odou, Marie-Françoise, North, Marie-Odile, Pertuit, Morgane, Pasmant, Eric, Coppin, Lucie, Guien, Céline, Calender, Alain, Borson-Chazot, Françoise, B

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2019

File:

PDF, 1.03 MB

2019

12

VKORC1 and CYP2C9 genetic polymorphisms in hepatic or portal vein thrombosis

Eric Pasmant, Charlotte de Beauvoir, Aurélie Plessier, Julien Labreuche, Annie Bezeaud

Journal:

Thrombosis Research

Year:

2010

Language:

english

File:

PDF, 107 KB

english, 2010

13

Differential Expression of CCN1 / CYR61 , CCN3/NOV , CCN4/WISP1 , and CCN5/WISP2 in Neurofibromatosis Type 1 Tumorigenesis

Pasmant, Eric, Ortonne, Nicolas, Rittiè, Laure, Laurendeau, Ingrid, Lèvy, Pascale, Lazar, Vladimir, Parfait, Bèatrice, Leroy, Karen, Dessen, Philippe, Valeyrie-Allanore, Laurence, Perbal, Bernard, Wol

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2010

Language:

english

File:

PDF, 692 KB

english, 2010

14

A severe neonatal presentation of factor II deficiency

Eric Pasmant, Bénédicte Dumont, Jean-Jacques Lacapere, Marie-Dominique Dautzenberg, Annie Bezeaud

Journal:

European Journal of Haematology

Year:

2011

Language:

english

File:

PDF, 97 KB

english, 2011

15

McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation – a case report

Gaujoux, Sébastien, Pasmant, Eric, Silve, Caroline, Mehsen-Cetre, Nadia, Coriat, Romain, Rouquette, Alexandre, Douset, Bertrand, Prat, Frédéric, Leroy, Karen

Journal:

Year:

2019

File:

PDF, 519 KB

2019

16

Prognostic value of a newly identified MALAT1 alternatively spliced transcript in breast cancer

Meseure, Didier, Vacher, Sophie, Lallemand, François, Alsibai, Kinan Drak, Hatem, Rana, Chemlali, Walid, Nicolas, Andre, De Koning, Leanne, Pasmant, Eric, Callens, Celine, Lidereau, Rosette, Morillon,

Journal:

British Journal of Cancer

Year:

2016

Language:

english

File:

PDF, 676 KB

english, 2016

17

Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options

Tlemsani, Camille, Leroy, Karen, Gimenez-Roqueplo, Anne-Paule, Mansuet-Lupo, Audrey, Pasmant, Eric, Larousserie, Frederique, Boudou-Rouquette, Pascaline, Vidaud, Michel, Cadranel, Jacques, Blons, Hele

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 851 KB

english, 2018

18

The NRF2 transcriptional target NQO1 has low mRNA levels in TP53-mutated endometrial carcinomas

Beinse, Guillaume, Just, Pierre-Alexandre, Rance, Bastien, Izac, Brigitte, Letourneur, Franck, Saidu, Nathaniel Edward Bennett, Chouzenoux, Sandrine, Nicco, Carole, Goldwasser, François, Pasmant, Eric

Journal:

Year:

2019

Language:

english

File:

PDF, 2.83 MB

english, 2019

19

Relevance of MPNST cell lines as models for NF1 associated-tumors

Pasmant, Eric, Luscan, Armelle, Varin, Jennifer, Laurendeau, Ingrid, Parfait, BÃ©atrice, Vidaud, Dominique

Journal:

Journal of Neuro-Oncology

Year:

2013

Language:

english

File:

PDF, 294 KB

english, 2013

20

NF1 single and multi-exons copy number variations in neurofibromatosis type 1

Imbard, Apolline, Pasmant, Eric, Sabbagh, Audrey, Luscan, Armelle, Soares, Magali, Goussard, Philippe, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanne-Ch

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 239 KB

english, 2015

21

Identification of Genes Potentially Involved in the Increased Risk of Malignancy in NF1-Microdeleted Patients

Pasmant, Eric, Masliah-Planchon, Julien, Lévy, Pascale, Laurendeau, Ingrid, Ortonne, Nicolas, Parfait, Béatrice, Valeyrie-Allanore, Laurence, Leroy, Karen, Wolkenstein, Pierre, Vidaud, Michel, Vidaud,

Journal:

Molecular Medicine

Year:

2011

Language:

english

File:

PDF, 1.87 MB

english, 2011

22

Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View

Pasmant, Eric, Vidaud, Dominique

Journal:

Year:

2016

Language:

english

File:

PDF, 147 KB

english, 2016

23

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family

Eric Pasmant, Jeanne Amiel, Diana Rodriguez, Michel Vidaud, Dominique Vidaud, Béatrice Parfait

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

24

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

De Raedt, Thomas, Beert, Eline, Pasmant, Eric, Luscan, Armelle, Brems, Hilde, Ortonne, Nicolas, Helin, Kristian, Hornick, Jason L., Mautner, Victor, Kehrer-Sawatzki, Hildegard, Clapp, Wade, Bradner, J

Journal:

Year:

2014

Language:

english

File:

PDF, 3.63 MB

english, 2014

25

Synovial Sarcomas Do Not Show H3K27 Trimethylation Loss Using Immunohistochemistry

Pasmant, Eric, Sohier, Pierre, Larousserie, Frédérique

Journal:

American Journal of Surgical Pathology

Year:

2017

Language:

english

File:

PDF, 284 KB

english, 2017

26

Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing

de Mestier, Louis, Pasmant, Eric, Fleury, Clémence, Brixi, Hedia, Sohier, Pierre, Féron, Thomas, Diebold, Marie-Danièle, Clauser, Eric, Cadiot, Guillaume

Journal:

Digestive and Liver Disease

Year:

2016

Language:

english

File:

PDF, 1.45 MB

english, 2016

27

Chaperoning 5S RNA assembly

Madru, Clément, Lebaron, Simon, Blaud, Magali, Delbos, Lila, Pipoli, Juliana, Pasmant, Eric, Réty, Stéphane, Leulliot, Nicolas

Journal:

Genes & Development

Year:

2015

Language:

english

File:

PDF, 755 KB

english, 2015

28

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

Louvrier, Camille, Pasmant, Eric, Briand-Suleau, Audrey, Cohen, Joëlle, Nitschké, Patrick, Nectoux, Juliette, Orhant, Lucie, Zordan, Cécile, Goizet, Cyril, Goutagny, Stéphane, Lallemand, Dominique, Vi

Journal:

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

29

Primary giant cell tumor of the common bile duct: No mutation H3F3A found

Beaufrère, Aurélie, Larousserie, Frédérique, Dokmak, Safi, Pasmant, Eric, Selves, Janick, Cazals-Hatem, Dominique

Journal:

Pathology International

Year:

2017

Language:

english

File:

PDF, 543 KB

english, 2017

30

BRAF inhibitor resistance of melanoma cells triggers increased susceptibility to natural killer cell-mediated lysis

Frazao, Alexandra, Rethacker, Louise, Jeudy, GÃ©raldine, Colombo, Marina, Pasmant, Eric, Avril, Marie-FranÃ§oise, Toubert, Antoine, Moins-Teisserenc, Helene, Roelens, Marie, Dalac, Sophie, Maubec, Eve

Journal:

Journal for ImmunoTherapy of Cancer

Year:

2020

File:

PDF, 2.96 MB

2020

31

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Pasmant, Eric, Parfait, Béatrice, Luscan, Armelle, Goussard, Philippe, Briand-Suleau, Audrey, Laurendeau, Ingrid, Fouveaut, Corinne, Leroy, Chrystel, Montadert, Annelore, Wolkenstein, Pierre, Vidaud,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 636 KB

english, 2015

32

Detection and Characterization of NF1 Microdeletions by Custom High Resolution Array CGH

Pasmant, Eric, Sabbagh, Audrey, Masliah-Planchon, Julien, Haddad, Véronique, Hamel, Marie-José, Laurendeau, Ingrid, Soulier, Jean, Parfait, Béatrice, Wolkenstein, Pierre, Bièche, Ivan, Vidaud, Michel,

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 364 KB

english, 2009

33

High specificity and sensitivity of NRAS Q61R immunohistochemistry (IHC) in melanomas

Just, Pierre-Alexandre, Pouliquen, Christelle, Audebourg, Anne, Laurent-Roussel, Sara, Carlotti, Agnès, Dupin, Nicolas, Vacher-Lavenu, Marie-Cécile, Vidaud, Michel, Terris, Benoît, Pasmant, Eric

Journal:

Journal of the American Academy of Dermatology

Year:

2016

Language:

english

File:

PDF, 450 KB

english, 2016

34

A Humanized Mouse Model to Study Type 1 Diabetes

Sandrine, Luce, Sophie, Guinoiseau, Alexis, Gadault, Franck, Letourneur, Bertrand, Blondeau, Patrick, Nitschke, Eric, Pasmant, Michel, Vidaud, François, Lemonnier, Christian, Boitard

Journal:

Year:

2018

Language:

english

File:

PDF, 3.88 MB

english, 2018

35

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

Pasmant, Eric, Goussard, Philippe, Baranes, Laetitia, Laurendeau, Ingrid, Quentin, Samuel, Ponsot, Philippe, Consigny, Yann, Farges, Olivier, Condat, Bertrand, Vidaud, Dominique, Vidaud, Michel, Chen,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 613 KB

english, 2012

36

Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression

Mandati, Vinay, Del Maestro, Laurence, Dingli, Florent, Lombard, Bérangère, Loew, Damarys, Molinie, Nicolas, Romero, Stephane, Bouvard, Daniel, Louvard, Daniel, Gautreau, Alexis M., Pasmant, Eric, Lal

Journal:

Journal of Biological Chemistry

Year:

2019

Language:

english

File:

PDF, 2.85 MB

english, 2019

37

Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomas

Just, Pierre-Alexandre, Audebourg, Anne, Pasmant, Eric, Clauser, Eric, Carlotti, Agnès, Laurent, Sara, Avril, Marie-Françoise, Vacher-Lavenu, Marie-Cécile, Vidaud, Michel, Terris, Benoît

Journal:

Human Pathology

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

38

Different sized somaticNF1locus rearrangements in neurofibromatosis

Eric Pasmant, Dominique Vidaud, Marcus Harrison, Meena Upadhyaya

Journal:

Journal of Neuro-Oncology

Year:

2011

Language:

english

File:

PDF, 395 KB

english, 2011

39

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient

de Saint-Trivier, Aurélie, Laurendeau, Ingrid, Dieux-Coeslier, Anne, Parfait, Béatrice, Vidaud, Michel, Vidaud, Dominique, Bièche, Ivan, Pasmant, Eric

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 285 KB

english, 2008

40

Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern

Just, Pierre-Alexandre, Letourneur, Franck, Pouliquen, Christelle, Dome, Florence, Audebourg, Anne, Biquet, Philippe, Vidaud, Michel, Terris, Benoit, Sibony, Mathilde, Pasmant, Eric

Journal:

Genes, Chromosomes and Cancer

Year:

2016

Language:

english

File:

PDF, 486 KB

english, 2016

41

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors

Sohier, Pierre, Luscan, Armelle, Lloyd, Angharad, Ashelford, Kevin, Laurendeau, Ingrid, Briand-Suleau, Audrey, Vidaud, Dominique, Ortonne, Nicolas, Pasmant, Eric, Upadhyaya, Meena

Journal:

Genes, Chromosomes and Cancer

Year:

2017

Language:

english

File:

PDF, 722 KB

english, 2017

42

Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma

Garinet, Simon, Nectoux, Juliette, Neou, Mario, Pasmant, Eric, Jouinot, Anne, Sibony, Mathilde, Orhant, Lucie, Pipoli da Fonseca, Juliana, Hecale-Perlemoine, Karine, Bricaire, Leopoldine, Groussin, Li

Journal:

Endocrine Related Cancer

Year:

2017

Language:

english

File:

PDF, 459 KB

english, 2017

43

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions

Antje M. Zickler, Stephanie Hampp, Ludwine Messiaen, Kathrin Bengesser, Tanja Mussotter, Angelika C. Roehl, Katharina Wimmer, Victor-Felix Mautner, Lan Kluwe, Meena Upadhyaya, Eric Pasmant, Nadia Chuz

Journal:

Year:

2012

Language:

english

File:

PDF, 399 KB

english, 2012

44

Unraveling the genetic predisposition of ribavirin-induced anaemia

Tarik Asselah, Eric Pasmant, Saïd Lyoumi

Journal:

Journal of Hepatology

Year:

2010

Language:

english

File:

PDF, 331 KB

english, 2010

45

COVID-19: discovery, diagnostics and drug development

Asselah, Tarik, Durantel, David, Pasmant, Eric, Lau, George, Schinazi, Raymond F.

Journal:

Journal of Hepatology

Year:

2020

File:

PDF, 8.78 MB

2020

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