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Elena Vallespin
Elena Vallespin
INGEMM - Hospital Universitario La Paz
Dirección de correo verificada de salud.madrid.org
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PROREPAIR-B: a prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer
E Castro, N Romero-Laorden, A Del Pozo, R Lozano, A Medina, J Puente, ...
Journal of Clinical Oncology 37 (6), 490-503, 2019
3192019
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
CM Louie, G Caridi, VS Lopes, F Brancati, A Kispert, MA Lancaster, ...
Nature genetics 42 (2), 175-180, 2010
2032010
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
A Ávila-Fernández, D Cantalapiedra, E Aller, E Vallespín, ...
Molecular vision 16, 2550, 2010
1252010
New microdeletion and microduplication syndromes: A comprehensive review
J Nevado, R Mergener, M Palomares-Bralo, KR Souza, E Vallespín, ...
Genetics and molecular biology 37, 210-219, 2014
1242014
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly
L Rodriguez-Laguna, N Agra, K Ibañez, G Oliva-Molina, G Gordo, ...
Journal of Experimental Medicine 216 (2), 407-418, 2019
1082019
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray
E Vallespin, D Cantalapiedra, R Riveiro-Alvarez, R Wilke, ...
Investigative ophthalmology & visual science 48 (12), 5653-5661, 2007
1052007
Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
D Diego-Alvarez, C Ramos-Corrales, M Garcia-Hoyos, ...
Human Reproduction 21 (4), 958-966, 2006
982006
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers
A Bustamante‐Aragones, M Rodriguez de Alba, C Gonzalez‐Gonzalez, ...
Haemophilia 14 (3), 593-598, 2008
932008
The impact of next-generation sequencing on the DNA methylation–based translational cancer research
J Soto, C Rodriguez-Antolin, E Vallespín, J de Castro Carpeño, ...
Translational Research 169, 1-18. e1, 2016
832016
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
L Rodriguez-Laguna, K Ibañez, G Gordo, S Garcia-Minaur, ...
Genetics in Medicine 20 (8), 882-889, 2018
692018
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
M Corton, SD Tatu, A Avila-Fernandez, E Vallespín, I Tapias, ...
Orphanet journal of rare diseases 8, 1-12, 2013
692013
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
R Riveiro-Alvarez, J Aguirre-Lamban, MA Lopez-Martinez, ...
British Journal of Ophthalmology 93 (10), 1359-1364, 2009
552009
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa
A Avila-Fernandez, R Riveiro-Alvarez, E Vallespin, R Wilke, I Tapias, ...
Investigative ophthalmology & visual science 49 (6), 2709-2713, 2008
552008
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ...
Clinical genetics 93 (4), 762-775, 2018
532018
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
JA Caparros‐Martin, MS Aglan, S Temtamy, GA Otaify, M Valencia, ...
Molecular genetics & genomic medicine 5 (1), 28-39, 2017
512017
Characterization of a 8q21. 11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
M Palomares, A Delicado, E Mansilla, ML de Torres, E Vallespín, ...
The American Journal of Human Genetics 89 (2), 295-301, 2011
492011
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques
J Tenorio, V Romanelli, A Martin‐Trujillo, GM Fernández, M Segovia, ...
American journal of medical genetics Part A 170 (10), 2740-2749, 2016
462016
The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways
M García, R Barrio, M García-Lavandeira, AR Garcia-Rendueles, ...
Scientific reports 7 (1), 1-18, 2017
452017
Heterozygous aggrecan variants are associated with short stature and brachydactyly: description of 16 probands and a review of the literature
L Sentchordi‐Montané, M Aza‐Carmona, S Benito‐Sanz, ...
Clinical endocrinology 88 (6), 820-829, 2018
412018
Analysis of invdupdel (8p) rearrangement: Clinical, cytogenetic and molecular characterization
FA García‐Santiago, V Martínez‐Glez, F Santos, S García‐Miñaur, ...
American Journal of Medical Genetics Part A 167 (5), 1018-1025, 2015
392015
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