de la Cruz X - Search Results

1

Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.

Viñas-Giménez L, Rincón R, Colobran R, de la Cruz X, Celis VP, Dapena JL, Alsina L, Sayós J, Martínez-Gallo M. Viñas-Giménez L, et al. Among authors: de la cruz x. Front Immunol. 2021 Sep 23;12:723836. doi: 10.3389/fimmu.2021.723836. eCollection 2021. Front Immunol. 2021. PMID: 34630398 Free PMC article.

2

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

Colobran R, Lois S, de la Cruz X, Pujol-Borrell R, Hernández-González M, Guilarte M. Colobran R, et al. Among authors: de la cruz x. Clin Immunol. 2014 Feb;150(2):143-8. doi: 10.1016/j.clim.2013.11.013. Epub 2013 Dec 4. Clin Immunol. 2014. PMID: 24412907

3

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

Colobran R, Álvarez de la Campa E, Soler-Palacín P, Martín-Nalda A, Pujol-Borrell R, de la Cruz X, Martínez-Gallo M. Colobran R, et al. Among authors: de la cruz x. Clin Immunol. 2016 Feb;163:60-5. doi: 10.1016/j.clim.2015.12.014. Epub 2015 Dec 31. Clin Immunol. 2016. PMID: 26748374

4

Novel Mutations Causing C5 Deficiency in Three North-African Families.

Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M. Colobran R, et al. Among authors: de la cruz x. J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30. J Clin Immunol. 2016. PMID: 27026170

5

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

Franco-Jarava C, Álvarez de la Campa E, Solanich X, Morandeira-Rego F, Mas-Bosch V, García-Prat M, de la Cruz X, Martín-Nalda A, Soler-Palacín P, Hernández-González M, Colobran R. Franco-Jarava C, et al. Among authors: de la cruz x. J Clin Immunol. 2017 Nov;37(8):781-789. doi: 10.1007/s10875-017-0447-x. Epub 2017 Sep 23. J Clin Immunol. 2017. PMID: 28942469

6

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.

Viñas-Giménez L, Donadeu L, Alsina L, Rincón R, de la Campa EÁ, Esteve-Sole A, Català A, Colobran R, de la Cruz X, Sayós J, Martínez-Gallo M. Viñas-Giménez L, et al. Among authors: de la campa ea, de la cruz x. Int J Hematol. 2020 Mar;111(3):440-450. doi: 10.1007/s12185-019-02796-7. Epub 2019 Dec 21. Int J Hematol. 2020. PMID: 31865540

7

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L, Padilla N, Batlle-Masó L, Casals F, Rivière JG, Martínez-Gallo M, de la Cruz X, Colobran R. Viñas-Giménez L, et al. Among authors: de la cruz x. Front Immunol. 2020 Jan 31;11:107. doi: 10.3389/fimmu.2020.00107. eCollection 2020. Front Immunol. 2020. PMID: 32076423 Free PMC article.

8

Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

Riera C, Lois S, Domínguez C, Fernandez-Cadenas I, Montaner J, Rodríguez-Sureda V, de la Cruz X. Riera C, et al. Among authors: de la cruz x. Proteins. 2015 Jan;83(1):91-104. doi: 10.1002/prot.24708. Epub 2014 Nov 18. Proteins. 2015. PMID: 25382311

9

PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update.

López-Ferrando V, Gazzo A, de la Cruz X, Orozco M, Gelpí JL. López-Ferrando V, et al. Among authors: de la cruz x. Nucleic Acids Res. 2017 Jul 3;45(W1):W222-W228. doi: 10.1093/nar/gkx313. Nucleic Acids Res. 2017. PMID: 28453649 Free PMC article.

10

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Padilla N, Moles-Fernández A, Riera C, Montalban G, Özkan S, Ootes L, Bonache S, Díez O, Gutiérrez-Enríquez S, de la Cruz X. Padilla N, et al. Among authors: de la cruz x. Hum Mutat. 2019 Sep;40(9):1593-1611. doi: 10.1002/humu.23802. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31112341 Free PMC article.

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