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Alberto López Lera
Alberto López Lera
Center for Biomedical Network Research on Rare Diseases (CIBERER)
在 ciberer.es 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
922020
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
742011
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
732020
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
672012
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
642010
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
602012
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
532016
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
442018
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
322018
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
292018
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
282022
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
272013
Hereditary angioedema: insights into inflammation and allergy
C Maas, A López-Lera
Molecular immunology 112, 378-386, 2019
262019
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
262019
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
262018
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
252015
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
242011
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
202009
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
172013
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
132022
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