SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes D Ponard, C Gaboriaud, D Charignon, A Ghannam, IGA Wagenaar‐Bos, ... Human mutation 41 (1), 38-57, 2020 | 92 | 2020 |
SERPING1 mutations in 59 families with hereditary angioedema A López-Lera, S Garrido, O Roche, M López-Trascasa Molecular immunology 49 (1-2), 18-27, 2011 | 74 | 2011 |
International consensus on the use of genetics in the management of hereditary angioedema AE Germenis, M Margaglione, JB Pesquero, H Farkas, S Cichon, D Csuka, ... The Journal of Allergy and Clinical Immunology: In Practice 8 (3), 901-911, 2020 | 73 | 2020 |
Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families C Marcos, AL Lera, S Varela, T Liñares, MG Alvarez-Eire, ... Annals of Allergy, Asthma & Immunology 109 (3), 195-200. e2, 2012 | 67 | 2012 |
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation A López-Lera, B Favier, RM de la Cruz, S Garrido, C Drouet, ... Journal of Allergy and Clinical Immunology 126 (6), 1307-1310. e3, 2010 | 64 | 2010 |
Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion M Alba-Domínguez, A López-Lera, S Garrido, P Nozal, ... Orphanet journal of rare diseases 7, 1-8, 2012 | 60 | 2012 |
Complement study versus CINH gene testing for the diagnosis of type I hereditary angioedema in children M Pedrosa, E Phillips-Angles, A López-Lera, M López-Trascasa, ... Journal of clinical immunology 36 (1), 16-18, 2016 | 53 | 2016 |
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency G Loules, M Zamanakou, F Parsopoulou, S Vatsiou, F Psarros, D Csuka, ... Gene 667, 76-82, 2018 | 44 | 2018 |
High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B RB Pouw, I Gómez Delgado, A López Lera, S Rodríguez de Córdoba, ... Frontiers in immunology 9, 848, 2018 | 32 | 2018 |
Autoantibodies against perilipin 1 as a cause of acquired generalized lipodystrophy F Corvillo, V Aparicio, A López-Lera, S Garrido, D Araújo-Vilar, ... Frontiers in immunology 9, 2142, 2018 | 29 | 2018 |
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE C Drouet, A López-Lera, A Ghannam, M López-Trascasa, S Cichon, ... Frontiers in allergy 3, 835503, 2022 | 28 | 2022 |
Hereditary angioedema caused by the p. Thr309Lys mutation in the F12 gene: a multifactorial disease C Gómez-Traseira, A López-Lera, C Drouet, M López-Trascasa, ... Journal of allergy and clinical immunology 132 (4), 986-989. e5, 2013 | 27 | 2013 |
Hereditary angioedema: insights into inflammation and allergy C Maas, A López-Lera Molecular immunology 112, 378-386, 2019 | 26 | 2019 |
Complement as a diagnostic tool in immunopathology A López-Lera, F Corvillo, P Nozal, JR Regueiro, P Sánchez-Corral, ... Seminars in Cell & Developmental Biology 85, 86-97, 2019 | 26 | 2019 |
Human plasma C3 is essential for the development of memory B, but not T, lymphocytes A Jiménez-Reinoso, AV Marin, M Subias, A López-Lera, E Román-Ortiz, ... Journal of Allergy and Clinical Immunology 141 (3), 1151-1154. e14, 2018 | 26 | 2018 |
C1 inhibitor function using contact‐phase proteases as target: evaluation of an innovative assay A Ghannam, P Sellier, F Defendi, B Favier, D Charignon, A López‐Lera, ... Allergy 70 (9), 1103-1111, 2015 | 25 | 2015 |
Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III ML Baeza, A Rodríguez‐Marco, A Prieto, C Rodríguez‐Sainz, ... Allergy 66 (7), 981-982, 2011 | 24 | 2011 |
Molecular characterization of three new mutations causing C5 deficiency in two non-related families A López-Lera, S Garrido, RM de la Cruz, G Fontán, M López-Trascasa Molecular immunology 46 (11-12), 2340-2347, 2009 | 20 | 2009 |
Disease-modifying factors in hereditary angioedema: an RNA expression-based screening A López-Lera, FS Cabo, S Garrido, A Dopazo, M López-Trascasa Orphanet Journal of Rare Diseases 8, 1-12, 2013 | 17 | 2013 |
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative J Luque, I Mendes, B Gomez, B Morte, M López de Heredia, E Herreras, ... Clinical Genetics 101 (5-6), 481-493, 2022 | 13 | 2022 |