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Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene

Autor: A Regueiro, J M Couselo, L Loidi, A Justicia, P Silva, S Fariña

Publikováno v: Genes and immunity. 18(3)

Agammaglobulinemia is a primary immunodeficiency disorder characterized by profoundly low or absent serum antibodies and low or absent circulating B cells. The most common form is X-linked agammaglobulinemia (XLA) caused by mutations in BTK gene. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38ddbbb556b0e8c0d5b90bbcbff7257c
https://pubmed.ncbi.nlm.nih.gov/28769069

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Metastatic neuroblastoma in infants: are survival rates excellent only within the stringent framework of clinical trials?

Publikováno v: CLINICAL & TRANSLATIONAL ONCOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical & Translational Oncology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

INTRODUCTION: SIOPEN INES protocol yielded excellent 5-year survival rates for MYCN-non-amplified metastatic neuroblastoma. Patients deemed ineligible due to lack or delay of MYCN status or late registration were treated, but not included in the stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b2116e644897228a355c9e13908857
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9642

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Osteosarcoma y síndrome ATR-16, ¿asociación o coincidencia?

Autor: M. Fernández Sanmartín, R. Saborido Fiaño, M. Vázquez Donsión, L. González Calvete, J. M. Couselo Sanchez, A. Regueiro García

Publikováno v: Anales de Pediatría, Vol 82, Iss 1, Pp e189-e191 (2015)

Resumen: El síndrome ATR-16 se debe a alteraciones en el cromosoma 16p13.3 y se caracteriza por α-talasemia, retraso mental leve-moderado, rasgos faciales dismórficos, malformaciones genitourinarias y esqueléticas. No hay hasta el momento actual

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c74b2c716e43ebc29f33aaffccdb60f
https://doi.org/10.1016/j.anpedi.2014.02.008

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[Osteosarcoma and ATR-16 syndrome: association or coincidence?]

Autor: A, Regueiro García, R, Saborido Fiaño, L, González Calvete, M, Vázquez Donsión, J M, Couselo Sánchez, M, Fernández Sanmartín

Publikováno v: Anales de pediatria (Barcelona, Spain : 2003). 82(1)

ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::65415a421c509d0b2b23bc5a9d75eaab
https://pubmed.ncbi.nlm.nih.gov/24631100

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Bone marrow transplantation in chronic granulomatous disease

Autor: M. S. Maldonado, M. C. Calviño, J. M. Couselo, A. Muñoz, E. Otheo, C. Burgaleta

Publikováno v: European Journal of Pediatrics. 155:877-879

We present a 5-year-old boy with a severe form of X-linked chronic granulomatous disease and hypersensitivity to sulphamides preventing prophylaxis with trimethoprim-sulphomethoxazole. Bone marrow transplantation was performed after preconditioning w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53d070f81aba0981d5fe0bf1bdc8b17a
https://doi.org/10.1007/bf02282837

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[Familial hemophagocytic lymphohistiocytosis: report of two new cases]

Autor: C, Perez-Caballero Macarrón, J M, Couselo Sánchez, M S, Maldonado Regalado, A, Muñoz Villa

Publikováno v: Anales espanoles de pediatria. 49(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::890bf2aae3b8be9c152ec55f3a9509a6
https://pubmed.ncbi.nlm.nih.gov/9718772

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[Growth in children with cancer]

Autor: M, Pombo, M L, Couce, J, Barreiro, J M, Couselo

Publikováno v: Anales espanoles de pediatria.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::167c3c055d1f885653d8dabca3ea03a2
https://pubmed.ncbi.nlm.nih.gov/9382293

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[Radiological parameters indicating normalization of bone lesions in Langerhans-cell histiocytosis]

Autor: J, Regueiro Martínez, A, Alonso Martín, P, Rivas Pumar, M, López Rivas, J M, Couselo Sánchez

Publikováno v: Anales espanoles de pediatria. 37(4)

The signs predicting radiological healing were studied in 35 bone lesions of 12 children with Langerhans' cell histiocytosis. The earliest and more frequent radiological signs predicting healing were a decrease in size (52%), the change from a non-sc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1e614dce83743e39cf6a8a9d45009b04
https://pubmed.ncbi.nlm.nih.gov/1443936

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Fuzzy Knowledge Representation for Leukemia Diagnosis in Children Oncology

Autor: J. M. Couselo, Ana E. Delgado, José Mira, Roque Marín, Álvaro Barreiro

Publikováno v: Progress in Fuzzy Sets and Systems ISBN: 9789401074056

This article describes the fuzzy, mixed prototype/production-rule methodology employed for knowledge representation and reasoning in ONCOGAL, a system designed to aid in the diagnosis of leukosis. ONCOGAL’s diagnostic process involves successive go

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d4306c2a4cc7c5dfe06f0cc04dfc5b4
https://doi.org/10.1007/978-94-009-2019-4_3

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