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Items: 18

1.

Overlap between Angiolymphoid Hyperplasia with Eosinophilia and Kimura's Disease in a Child with Immune Thrombocytopenic Purpura.

Bardón-Cancho EJ, Garrido-Colino C, Hernández-García B, Parra-Blanco V, García-Morín M, Cela E, Domínguez MC.

Indian J Dermatol. 2019 Mar-Apr;64(2):159-161. doi: 10.4103/ijd.IJD_334_17. No abstract available.

2.

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.

Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases.

Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18.

PMID:
30334577
3.

Phenotype of mutations in the promoter region of the β-globin gene.

Ropero P, Erquiaga S, Arrizabalaga B, Pérez G, de la Iglesia S, Torrejón MJ, Gil C, Elena C, Tenorio M, Nieto JM, de la Fuente-Gonzalo F, Villegas A, González Fernández FA, Martínez R.

J Clin Pathol. 2017 Oct;70(10):874-878. doi: 10.1136/jclinpath-2017-204378. Epub 2017 Apr 6.

PMID:
28385923
4.

Lactate Dehydrogenase: A Marker of the Severity of Vaso-Occlusive Crisis in Children with Sickle Cell Disease Presenting at the Emergency Department.

García-Morin M, López-Sangüos C, Vázquez P, Alvárez T, Marañón R, Huerta J, Cela E.

Hemoglobin. 2016 Nov;40(6):388-391. doi: 10.1080/03630269.2016.1275677.

PMID:
28361592
5.

National registry of hemoglobinopathies in Spain (REPHem).

Cela E, Bellón JM, de la Cruz M, Beléndez C, Berrueco R, Ruiz A, Elorza I, Díaz de Heredia C, Cervera A, Vallés G, Salinas JA, Coll MT, Bermúdez M, Prudencio M, Argilés B, Vecilla C; SEHOP-Hemoglobinopathies Study Group (Sociedad Española de Hematología y Oncología Pediátricas).

Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26322. Epub 2016 Nov 2.

PMID:
27804209
6.

Chronic brain damage in sickle cell disease and its relation with quality of life.

Cela E, Vélez AG, Aguado A, Medín G, Bellón JM, Beléndez C.

Med Clin (Barc). 2016 Dec 16;147(12):531-536. doi: 10.1016/j.medcli.2016.07.028. Epub 2016 Sep 29. English, Spanish.

PMID:
27692991
7.

[Bone marrow transplant in patients with sickle cell anaemia. Experience in one centre].

García Morin M, Cela E, Garrido C, Bardón Cancho E, Aguado Del Hoyo A, Pascual C, Pérez-Corral A, Beléndez C.

An Pediatr (Barc). 2017 Mar;86(3):142-150. doi: 10.1016/j.anpedi.2016.03.014. Epub 2016 Apr 29. Spanish.

8.

HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies.

de la Fuente-Gonzalo F, Nieto JM, Velasco D, Cela E, Pérez G, Fernández-Teijeiro A, Escudero A, Villegas A, González-Fernández FA, Ropero P.

Clin Chem Lab Med. 2016 Apr;54(4):553-60. doi: 10.1515/cclm-2015-0649.

PMID:
26485748
9.

Association in cis of the mutations +20 (C>T) in the 5' untranslated region and IVS-II-745 (C>G) on the β-globin gene.

Ropero P, González FA, Cela E, Beléndez C, Cervera A, Martínez-Nieto J, de la Fuente-Gonzalo F, Vinuesa L, Villegas A, Díaz-Mediavilla J.

Hemoglobin. 2013;37(2):112-8. doi: 10.3109/03630269.2013.766620. Epub 2013 Feb 21.

PMID:
23425204
10.

Erythrocytosis in a child due to Hb Andrew-Minneapolis [β144(HC1)Lys→Asn (AAG>AAT or AAC)] associated with a Spanish (δβ)(0)-thalassemia.

Ropero P, González FA, Cela E, Beléndez C, Pérez B, Seri C, Fontanes E, Villegas A, Díaz-Mediavilla J.

Hemoglobin. 2013;37(1):48-55. doi: 10.3109/03630269.2012.746943. Epub 2012 Dec 10.

PMID:
23215953
11.

Status of vitamin D in children with sickle cell disease living in Madrid, Spain.

Garrido C, Cela E, Beléndez C, Mata C, Huerta J.

Eur J Pediatr. 2012 Dec;171(12):1793-8. doi: 10.1007/s00431-012-1817-2. Epub 2012 Sep 5.

PMID:
22949161
12.

[T-cell pediatric acute lymphoblastic leukemia: analysis of survival and prognostic factors in 4 consecutive protocols of the Spanish cooperative study group SHOP].

Rives S, Estella J, Camós M, García-Miguel P, Verdeguer A, Couselo JM, Tasso M, Molina J, Gómez P, Fernández-Delgado R, Navajas A, Badell I; grupo cooperativo SHOP (Sociedad Española de Hemato-Oncología Pediátrica).

Med Clin (Barc). 2012 Jul 7;139(4):141-9. doi: 10.1016/j.medcli.2011.12.019. Epub 2012 Mar 28. Spanish.

PMID:
22459573
13.

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J.

Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27.

14.

Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact.

Castella M, Pujol R, Callén E, Ramírez MJ, Casado JA, Talavera M, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Estella J, Dasí Á, Rodríguez-Villa A, Gómez P, Tapia M, Molinés A, Figuera Á, Bueren JA, Surrallés J.

J Med Genet. 2011 Apr;48(4):242-50. doi: 10.1136/jmg.2010.084210. Epub 2011 Jan 7.

PMID:
21217111
15.

[Prenatal diagnosis of hemoglobinopathies and thalassemias].

Ropero P, González FA, Hernández A, Sánchez H, Cela E, Villegas A.

Med Clin (Barc). 2009 Jan 24;132(2):53-6. doi: 10.1016/j.medcli.2008.09.012. Epub 2008 Dec 12. Spanish.

PMID:
19174070
16.

Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function.

Urrea Moreno R, Gil J, Rodriguez-Sainz C, Cela E, LaFay V, Oloizia B, Herr AB, Sumegi J, Jordan MB, Risma KA.

Blood. 2009 Jan 8;113(2):338-46. doi: 10.1182/blood-2008-08-172924. Epub 2008 Oct 16.

17.

[Fannin-Lubbock II hemoglobin [beta111(G13)Val -> Leu y beta119(GH2)Gly -> Asp]: description of 4 new cases].

González FA, Ropero P, Arrizabalaga B, García P, Cela E, Villegas A.

Med Clin (Barc). 2007 Sep 22;129(10):379-81. Spanish.

PMID:
17915134
18.

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.

Antonio Casado J, Callén E, Jacome A, Río P, Castella M, Lobitz S, Ferro T, Muñoz A, Sevilla J, Cantalejo A, Cela E, Cervera J, Sánchez-Calero J, Badell I, Estella J, Dasí A, Olivé T, José Ortega J, Rodriguez-Villa A, Tapia M, Molinés A, Madero L, Segovia JC, Neveling K, Kalb R, Schindler D, Hanenberg H, Surrallés J, Bueren JA.

J Med Genet. 2007 Apr;44(4):241-9. Epub 2006 Nov 14.

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