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1

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, BÃ©nÃ©dicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-BenoÃ®t, Carmignac, Virginie, Garret, Philippine, Bessis

Journal:

Nature Genetics

Year:

2020

File:

PDF, 507 KB

2020

2

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, D

Journal:

Nature Genetics

Year:

2019

File:

PDF, 649 KB

2019

3

Une pancréatite auto-immune à IgG4 simulant un adénocarcinome : à propos d’un cas

Courcet, Emilie, Beltjens, Françoise, Charon-Barra, Céline, Guy, France, Orry, David, Ghiringhelli, François, Arnould, Laurent

Journal:

Annales de Pathologie

Year:

2015

File:

PDF, 1.55 MB

2015

4

Synthesis, Structure, and Physical Properties of Tetraalkylammonium Bis(5,6-dihydro-1,4-dithiin-2,3-diselenolato)nickelate, (R4N)[Ni(ddds)2] (R = Me, Et, and nBu), and Neutral Complex [Ni(ddds)2]2

Hideki Fujiwara, Emiko Ojima, Hayao Kobayashi, Thierry Courcet, Isabelle Malfant, Patrick Cassoux

Journal:

European Journal of Inorganic Chemistry

Year:

1998

Language:

english

File:

PDF, 483 KB

english, 1998

5

The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability

Mehawej, Cybel, Courcet, Jean-Benoît, Baujat, Geneviève, Mouy, Richard, Gérard, Marion, Landru, Isabelle, Gosselin, Morgane, Koehrer, Philippe, Mousson, Christiane, Breton, Sylvain, Quartier, Pierre,

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 192 KB

english, 2013

6

Preparation, X-ray crystal structure, electrical and optical properties of a new BETS charge transfer salt : κ-(BETS)4,Cu2Cl6

T. Courcet, I. Malfant, H. Gomitzka, P. Cassoux, H. Kobayashi

Journal:

Synthetic Metals

Year:

1999

Language:

english

File:

PDF, 194 KB

english, 1999

7

Torque anisotropy in λ-(BEDT-TSF)2FeCl4

J.I. Oh, M.J. Naughton, T. Courcet, I. Malfant, P. Cassoux, M. Tokumoto, H. Akutsu, H. Kobayashi, A. Kobayashi

Journal:

Synthetic Metals

Year:

1999

Language:

english

File:

PDF, 405 KB

english, 1999

8

BEDT-TTF derivatives with one and two dioxane rings and their conductive salts

A.I. Kotov, L.I. Buravov, S.V. Konovalikhin, O.A. Dyachenko, E.B. Yagubskii, I. Malfant, T. Courcet, P. Cassoux, J. Akimoto, K. Honda, M. Mizuno

Journal:

Synthetic Metals

Year:

1999

Language:

english

File:

PDF, 166 KB

english, 1999

9

Mutations activatrices de mTOR en mosaïque dans l’hypomélanose d’Ito avec mégalencéphalie

Vabres, P., Parker, V., Courcet, J.-B., St-Onge, J., Duffourd, Y., Rodriguez, D., Mignot, C., Knox, R., Boland, A., Olaso, R., Delepine, M., Darmency-Stamboul, V., Vincent-Delorme, C., Catteau, B., Gu

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2015

Language:

french

File:

PDF, 80 KB

french, 2015

10

Bis(ethylenedithio)tetraselenafulvalene: short-cut synthesis, X-ray crystal structure and π-electron density distribution

Courcet, Thierry, Malfant, Isabelle, Pokhodnia, Konstantin, Cassoux, Patrick

Journal:

New Journal of Chemistry

Year:

1998

Language:

english

File:

PDF, 254 KB

english, 1998

11

Structure and properties of BETS salts: κ-(BETS)8(Cu2Cl6)(CuCl4), θ-(BETS)2(CuCl2) and (BETS)2(CuCl4)

Isabelle Malfant, Thierry Courcet, Christophe Faulmann, Patrick Cassoux, Heinz Gornitzka, Fabien Granier, Marie-Liesse Doublet, Philippe Guionneau, Judith A.K Howard, Natalyia D Kushch, Akiko Kobayash

Journal:

Comptes Rendus de l'Académie des Sciences - Series IIC - Chemistry

Year:

2001

File:

PDF, 710 KB

2001

12

Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome

Courcet, Jean-Benoît, Faivre, Laurence, Michot, Caroline, Burguet, Antoine, Perez-Martin, Stéphanie, Alix, Eudeline, Amiel, Jeanne, Baumann, Clarisse, Cordier, Marie-Pierre, Cormier-Daire, Valérie, De

Journal:

The Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 248 KB

english, 2013

13

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Kuentz, Paul, St-Onge, Judith, Duffourd, Yannis, Courcet, Jean-Benoît, Carmignac, Virginie, Jouan, Thibaud, Sorlin, Arthur, Abasq-Thomas, Claire, Albuisson, Juliette, Amiel, Jeanne, Amram, Daniel, Arp

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 808 KB

english, 2017

14

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Courcet, J.-B., Faivre, L., Malzac, P., Masurel-Paulet, A., Lopez, E., Callier, P., Lambert, L., Lemesle, M., Thevenon, J., Gigot, N., Duplomb, L., Ragon, C., Marle, N., Mosca-Boidron, A.-L., Huet, F.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 280 KB

english, 2012

15

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, D

Journal:

Nature Genetics

Year:

2019

Language:

english

File:

PDF, 1.81 MB

english, 2019

16

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 888 KB

english, 2012

17

P-155 – Une série d'intoxications accidentelles au cannabis

Hautin, L., Bernardini, S., Ben Signor, C., Cotinaud Ricou, A., Litzler Renault, S., Perez Martin, S., Huet, F., Courcet, J.B.

Journal:

Archives de Pédiatrie

Year:

2015

Language:

french

File:

PDF, 83 KB

french, 2015

18

P-244 – Céphalées persistantes avec œdeme papillaire sans htic

Mery, E., Couillaut, G., Poinsot, P., Allavoine, E., Chavy, C., Stamboul, V. Darmency, Maudinas, R., Bournez, M., Huet, F., Courcet, J.B.

Journal:

Archives de Pédiatrie

Year:

2015

Language:

french

File:

PDF, 68 KB

french, 2015

19

ChemInform Abstract: Bis(ethylenedithio)tetraselenafulvalene: Short-Cut Synthesis, X-Ray Crystal Structure and π-Electron Density Distribution.

T. COURCET, I. MALFANT, K. POKHODNIA, P. CASSOUX

Journal:

Year:

1998

File:

PDF, 31 KB

1998

20

P-119 – Un syndrome de Kawasaki à très haut risque

Labaste, A., Bonnet, C., Perez-Martin, S., Laforêt, A., Cotianud-Ricou, A., Ternoy, N., Colomb, B., Bajolle, F., Huet, F., Couillault, G., Courcet, J.B.

Journal:

Archives de Pédiatrie

Year:

2015

Language:

french

File:

PDF, 59 KB

french, 2015

21

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

Courcet, Jean- Benoît, Elalaoui, Siham Chafai, Duplomb, Laurence, Tajir, Mariam, Rivière, Jean-Baptiste, Thevenon, Julien, Gigot, Nadège, Marle, Nathalie, Aral, Bernard, Duffourd, Yannis, Sarasin, Ala

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 597 KB

english, 2015

22

SYNTHESIS OF 1, n-BIS (2,5–DIPHENYLPHOSPHOL-1-YL) ALKANES

Bousquet, Sandrine, Brunet, Jean-Jacques, Courcet, Thierry, Neibecker, Denis

Journal:

Phosphorus Sulfur and Silicon and the Related Elements

Year:

1998

Language:

english

File:

PDF, 326 KB

english, 1998

23

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations

Courcet, Jean-Benoît, Minello, Anne, Prieur, Fabienne, Morisse, Laurent, Phelip, Jean-Marc, Beurdeley, Alain, Meynard, Daniel, Massenet, Denis, Lacassin, Flore, Duffourd, Yannis, Gigot, Nadège, St-Ong

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 427 KB

english, 2015

24

Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque

Vabres, P., Sorlin, A., Kholmanskikh, S.S., Demeer, B., St-Onge, J., Duffourd, Y., Kuentz, P., Courcet, J.-B., Carmignac, V., Bessis, D., Boute, O., Bron, A., Captier, G., Carmi, E., Devauchelle, B.,

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2017

Language:

french

File:

PDF, 67 KB

french, 2017

25

Why do results conflict regarding the prognostic value of the methylation status in colon cancers? the role of the preservation method

Benjamin Tournier, Caroline Chapusot, Emilie Courcet, Laurent Martin, Côme Lepage, Jean Faivre, Françoise Piard

Journal:

Year:

2012

Language:

english

File:

PDF, 353 KB

english, 2012

26

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

Degrolard-Courcet, Emilie, Sokolowska, Joanna, Padeano, Marie-Martine, Guiu, Séverine, Bronner, Myriam, Chery, Carole, Coron, Fanny, Lepage, Côme, Chapusot, Caroline, Loustalot, Catherine, Jouve, Jean

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.56 MB

english, 2014

27

616 Postzygotic mutations of RHOA cause a mosaic neuroectodermal syndrome

Vabres, P., Sorlin, A., Kholmanskikh, S.S., Demeer, B., St-Onge, J., Duffourd, Y., Kuentz, P., Courcet, J., carmignac, v, Bessis, D., Bernard, G., Dobyns, W.B., Faivre, L., Ross, M., Rivière, J.

Journal:

The Journal of Investigative Dermatology

Year:

2017

Language:

english

File:

PDF, 246 KB

english, 2017

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