| New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing LC Patiño, I Beau, C Carlosama, JC Buitrago, R González, CF Suárez, ... Human reproduction 32 (7), 1512-1520, 2017 | 81 | 2017 |
| Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations. PL Dora Janeth Fonseca, Liliana Catherine Patiño, Yohjana Carolina Suárez ... Fertility and sterility, 2015 | 81 | 2015 |
| A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency C Carlosama, M Elzaiat, LC Patiño, HE Mateus, RA Veitia, P Laissue Human molecular genetics 26 (16), 3161-3166, 2017 | 78 | 2017 |
| ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure C Delcour, L Amazit, LC Patino, F Magnin, J Fagart, B Delemer, J Young, ... Genetics in Medicine 21 (4), 930-938, 2019 | 72 | 2019 |
| BMP15 mutations associated with primary ovarian insufficiency reduce expression, activity, or synergy with GDF9 LC Patiño, KL Walton, TD Mueller, KE Johnson, W Stocker, D Richani, ... The Journal of Clinical Endocrinology & Metabolism 102 (3), 1009-1019, 2017 | 63 | 2017 |
| Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. LP Patiño LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR ... PLoS One 9 (10), 2014 | 46 | 2014 |
| BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure. LP Fonseca DJ, Ortega-Recalde O, Esteban-Perez C, Moreno-Ortiz H, Patiño LC ... Reprod Biomed Online 29 (5), 627-33, 2014 | 35 | 2014 |
| Pv RON2, a new Plasmodium vivax rhoptry neck antigen G Arévalo-Pinzón, H Curtidor, LC Patiño, MA Patarroyo Malaria journal 10, 1-10, 2011 | 34 | 2011 |
| BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency L Renault, LC Patiño, F Magnin, B Delemer, J Young, P Laissue, N Binart, ... The Journal of Clinical Endocrinology & Metabolism 105 (4), e1449-e1457, 2020 | 30 | 2020 |
| A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. LP Ortega-Recalde O, Fonseca DJ, Patiño LC, Atuesta JJ, Rivera-Nieto C ... Mitochondrion 13 (6), 749-54, 2013 | 27 | 2013 |
| A potential functional association between mutant BMPR2 and primary ovarian insufficiency LC Patiño, D Silgado, P Laissue Systems Biology in Reproductive Medicine 63 (3), 145-149, 2017 | 26 | 2017 |
| Identification of the Plasmodium falciparum rhoptry neck protein 5 (PfRON5). PMA Curtidor H, Patiño LC, Arévalo-Pinzón G, Patarroyo ME Gene 474 (1-2), 22-8, 2011 | 26 | 2011 |
| Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology LC Patiño, I Beau, A Morel, B Delemer, J Young, N Binart, P Laissue Human Mutation 40 (1), 25-30, 2019 | 20 | 2019 |
| Plasmodium falciparum rhoptry neck protein 5 peptides bind to human red blood cells and inhibit parasite invasion. PMA Curtidor H, Patiño LC, Arévalo-Pinzón G, Vanegas M, Patarroyo ME Peptides 53, 210-7, 2014 | 16 | 2014 |
| TGF-β uncouples glycolysis and inflammation in macrophages and controls survival during sepsis T Gauthier, C Yao, T Dowdy, W Jin, YJ Lim, LC Patiño, N Liu, ... Science signaling 16 (797), eade0385, 2023 | 14 | 2023 |
| Binding activity, structure, and immunogenicity of synthetic peptides derived from Plasmodium falciparum CelTOS and TRSP proteins. PME Curtidor H, Arévalo-Pinzón G, Bermudez A, Calderon D, Vanegas M, Patiño ... Amino Acids 43 (1), 365-78, 2012 | 9 | 2012 |
| A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency. C Carlosama, LC Patiño, I Beau, A Morel, B Delemer, J Young, N Binart, ... Clinical Endocrinology 89 (2), 2018 | 6 | 2018 |
| MON-235 Bone Morphogenic Protein Receptor Variants: A New Cause of Primary Ovarian Insufficiency I Beau, L Renault, L Patino, B Delemer, P Laissue, J Young, N Binart Journal of the Endocrine Society 3 (Supplement_1), MON-235, 2019 | 1 | 2019 |
| TGF-β promotes glycolysis through PFKL in activated macrophages and exacerbates sepsis by disrupting blood coagulation T Gauthier, C Yao, W Jin, YJ Lim, LC Patino, N Liu, M Mitrovic, ... The Journal of Immunology 210 (1_Supplement), 161.02-161.02, 2023 | | 2023 |
| The role of NFAT in CD8+ Foxp3+ Tregs LC Patino, O Ortega-Recalde, T Gauthier, N Liu, W Jin, WJ Chen The Journal of Immunology 210 (1_Supplement), 154.05-154.05, 2023 | | 2023 |
Paul LaissueLATAM Medical Director. Orphan Diseases Unit. Biopas Laboratoires. BIOPAS Group. Inserm U1016, CNRS在 biopasgroup.com 的电子邮件经过验证
