Search details
1.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36044892
2.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-35051358
3.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101120, 2024 Mar 10.
Article
in English
| MEDLINE | ID: mdl-38469793
4.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906456
5.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35678782
6.
Phase I/II clinical trial of adoptive cell transfer of sorted specific T cells for metastatic melanoma patients.
Cancer Immunol Immunother
; 70(10): 3015-3030, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34120214
7.
Viral and tumor antigen-specific CD8 T-cell responses in Merkel cell carcinoma.
Cell Immunol
; 344: 103961, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31472938
8.
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]. / Protéasomopathies neurodéveloppementales : une nouvelle classe de maladies du neurodéveloppement causées par une dysfonction du protéasome.
Med Sci (Paris)
; 40(2): 176-185, 2024 Feb.
Article
in French
| MEDLINE | ID: mdl-38411426
9.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv
; 2024 Jan 26.
Article
in English
| MEDLINE | ID: mdl-38293138
10.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
medRxiv
; 2023 Jun 16.
Article
in English
| MEDLINE | ID: mdl-37398376
11.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Article
in English
| MEDLINE | ID: mdl-37256937
12.
Frequent occurrence of high affinity T cells against MELOE-1 makes this antigen an attractive target for melanoma immunotherapy.
Eur J Immunol
; 40(6): 1786-94, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20217862
13.
A long peptide from MELOE-1 contains multiple HLA class II T cell epitopes in addition to the HLA-A*0201 epitope: an attractive candidate for melanoma vaccination.
Cancer Immunol Immunother
; 60(3): 327-37, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21080167
14.
An additional ORF on meloe cDNA encodes a new melanoma antigen, MELOE-2, recognized by melanoma-specific T cells in the HLA-A2 context.
Cancer Immunol Immunother
; 59(3): 431-9, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-19730858
15.
MicroRNAs in Tumor Exosomes Drive Immune Escape in Melanoma.
Cancer Immunol Res
; 8(2): 255-267, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31857348
16.
Increased antitumor efficacy of PD-1-deficient melanoma-specific human lymphocytes.
J Immunother Cancer
; 8(1)2020 01.
Article
in English
| MEDLINE | ID: mdl-32001504
17.
PD-1 and TIGIT coexpression identifies a circulating CD8 T cell subset predictive of response to anti-PD-1 therapy.
J Immunother Cancer
; 8(2)2020 11.
Article
in English
| MEDLINE | ID: mdl-33188038
18.
Selective SIRPα blockade reverses tumor T cell exclusion and overcomes cancer immunotherapy resistance.
J Clin Invest
; 130(11): 6109-6123, 2020 11 02.
Article
in English
| MEDLINE | ID: mdl-33074246
19.
A new tyrosinase epitope recognized in the HLA-B*4002 context by CTL from melanoma patients.
Cancer Immunol Immunother
; 58(2): 271-80, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-18612636
20.
TCR Analyses of Two Vast and Shared Melanoma Antigen-Specific T Cell Repertoires: Common and Specific Features.
Front Immunol
; 9: 1962, 2018.
Article
in English
| MEDLINE | ID: mdl-30214446