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Akademický článek

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Síndrome de Crouzon: a propósito de 2 casos. Entidades craneoestenóticas alélicas de los genes FGFR

Autor: J. M. Costa Clarà, R. Vidal Sanahuja, C. Sánchez Garre, J. Quilis Esquerra, G. García Fructuoso, E. Gean Molins

Publikováno v: Anales de Pediatría, Vol 77, Iss 4, Pp 272-278 (2012)

Resumen: Introducción: La craneosinostosis consiste en una fusión patológica precoz de una o varias suturas craneales. El 20% de los casos corresponde a formas sindrómicas con patrones hereditarios mendelianos, mientras que el 80% restante a form

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c2eb2c6fd726d91c0cf905275ad3a5
http://www.sciencedirect.com/science/article/pii/S1695403312001841

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Diagnóstico clínico de síndrome de Levy-Hollister familiar

Autor: E. Gean Molins, A. Palomeque Rico, D. Vila Pérez, D. Palanca Arias

Publikováno v: Anales de Pediatría, Vol 80, Iss 2, Pp 114-116 (2014)

Resumen: El síndrome lácrimo-aurículo-dento-digital (síndrome LADD o también conocido como síndrome de Levy-Hollister) es un defecto autosómico dominante con expresividad variable. Este síndrome se caracteriza por la asociación de displasias

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c7594f156bf4160bfb92b1dbeb8dc3b
http://www.sciencedirect.com/science/article/pii/S169540331300091X

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Humoral deficiency in three paediatric patients with genetic diseases

Autor: Ana Esteve-Solé, A.M. Plaza, M. Piquer Gibert, Angela Deyà-Martínez, Laia Alsina, E. Gean, Manel Juan, L. Martínez Valdez, K. Calvo Campoverde, M. Rojas Volquez

Publikováno v: Allergologia et immunopathologia. 44(3)

Background Primary immunodeficiencies (PID) represent a heterogeneous group of genetic disorders characterised by poor or absent function in one or more components of the immune system. Humoral or antibody immunodeficiencies are the most common form

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b12e11769d8b31029fee7498adcc9a08
https://pubmed.ncbi.nlm.nih.gov/26947896

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[Clinical diagnosis of familial Levy-Hollister syndrome]

Autor: D, Vila Pérez, D, Palanca Arias, E, Gean Molins, A, Palomeque Rico

Publikováno v: Anales de pediatria (Barcelona, Spain : 2003). 80(2)

Lacrimo-auriculo-dento-digital syndrome (LADD syndrome), also known as Levy-Hollister syndrome, is an autosomal dominant defect with variability on phenotypical expression. This syndrome is characterised by the association of dysplasia in various org

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::52f9346e5328f76fe4d07eddd3908722
https://pubmed.ncbi.nlm.nih.gov/23562527

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[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes]

Autor: R, Vidal Sanahuja, E, Gean Molins, C, Sánchez Garré, J, Quilis Esquerra, G, García Fructuoso, J M, Costa Clara

Publikováno v: Anales de pediatria (Barcelona, Spain : 2003). 77(4)

Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c78764cbb04d5a8c1ce742193c876b3b
https://pubmed.ncbi.nlm.nih.gov/22633821

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Clinical and immunological spectrum of partial DiGeorge syndrome

Autor: M A, Martin Mateos, B P, Pérez Dueñas, M, Iriondo, J, Krauel, E, Gean Molins

Publikováno v: Journal of investigational allergologyclinical immunology. 10(6)

We present four cases of DiGeorge syndrome diagnosed at our center. Onset occurred during the neonatal period and was associated with severe congenital heart disease. In case 1, the patient had heart disease and absence of thymus. Total T-lymphocytes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7dace44cb09e4c38943bae4d8a096b87
https://pubmed.ncbi.nlm.nih.gov/11206936

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