Description of the characteristics of cases with noncontiguous neural tube defects identified in a series of consecutive births

Autor: P. Aparicio, J. Gomez-Ullate, J. J. Marco, D. Romero, María Luisa Martínez-Frías, G. Palacios, A. Sanchís, M. Martín, V. Felix, M. Blanco, M. S. Vázquez, H. Huertas, J. A. Lopez, N. Jiménez, M. J. García

Publikováno v: Teratology. 57:13-16

Van Allen et al. [(1973) Am. J. Med. Genet. 47:723-743] provided evidence for multisite closure of the neural tube in humans. Reynolds et al. [(1995) Proceedings of the greewood Genetic Center 14:70-71] and Seller [(1995) J. Med. Genet. 32:205-207] d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4bd276bb52ebfe228d6eb1c1627c0cd2
https://doi.org/10.1002/(sici)1096-9926(199801)57:1<13::aid-tera3>3.0.co

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain]

Autor: I, Arroyo Carrera, M L, Martínez-Frías, J J, Marco Pérez, L, Paisán Grisolía, A, Cárdenes Rodríguez, C, Nieto Conde, V, Félix Rodríguez, J J, Egüés Jimeno, M C, Morales Fernández, J, Gómez-Ullate Vergara, M, Pardo Romero, A, Peñas Valiente, M J, Oliván del Cacho, A, Lara Palma

Publikováno v: Anales espanoles de pediatria. 51(6)

Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is characterized by symmetrical cutaneous and bony syndactyly of the hands and feet and a variety of pleio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fb002facc6429f2c68bad4cb01450a53
https://pubmed.ncbi.nlm.nih.gov/10666902

Amelia: analysis of its epidemiological and clinical characteristics

Autor: M L, Martínez-Frías, E, Bermejo, P, Aparicio, M, Blanco, E, Burón, L, Cuevas, M J, Espinosa, J, Fondevilla, M, Gallo, F, Hernández, J J, Marco, S, Martínez, M C, Morales, I, Mújica, L, Paisán, L, Valdivia

Publikováno v: American journal of medical genetics. 73(2)

Eighteen cases of amelia in the Spanish Collaborative Study of Congenital Malformations (ECEMC) were analyzed epidemiologically. Prevalence at birth was 0.15 per 10,000 newborn infants, which is not different from that reported by other authors. Affe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::156b15ed2182bb91974c74234c306cd7
https://pubmed.ncbi.nlm.nih.gov/9409871

Estudio a largo plazo (más de 10 años de evolución), de las complicaciones de las artroplastias trapecio-metacarpianas de tipo ARPE®

Autor: M. A. Martín Ferrero, C. Simón Pérez, A. Mayo Iscar, B. García Medrano, J. J. Marcos Rodriguez, H. Hijazi Alsusi

Publikováno v: Revista Iberoamericana de Cirugía de la Mano, Vol 42, Iss 02, Pp 107-118 (2014)

Resumen Objetivo: La artrosis trapecio-metacarpiana es una patología incapacitante, que produce dolor, disminución de la fuerza, pérdida de destreza en la pinza y limitación de la movilidad del pulgar. Cuando fracasa el tratamiento médico se pue

Externí odkaz: https://doaj.org/article/ad7d38537b834afb9936c813bc0cebc8

Cancer cell-selective induction of mitochondrial stress and immunogenic cell death by PT-112 in human prostate cell lines.

Autor: Soler-Agesta R; Biochemistry and Molecular and Cell Biology, Aragón Health Research Institute (IIS-Aragón), University of Zaragoza, Zaragoza, Spain., Moreno-Loshuertos R; Biochemistry and Molecular and Cell Biology, Aragón Health Research Institute (IIS-Aragón), University of Zaragoza, Zaragoza, Spain. raquelml@unizar.es., Yim CY; Promontory Therapeutics Inc, New York, NY, USA., Congenie MT; Promontory Therapeutics Inc, New York, NY, USA., Ames TD; Promontory Therapeutics Inc, New York, NY, USA., Johnson HL; Department of Molecular and Cellular Biology, Integrated Microscopy Core, Baylor College of Medicine, Houston, TX, USA., Stossi F; Department of Molecular and Cellular Biology, Integrated Microscopy Core, Baylor College of Medicine, Houston, TX, USA., Mancini MG; Department of Molecular and Cellular Biology, Integrated Microscopy Core, Baylor College of Medicine, Houston, TX, USA., Mancini MA; Department of Molecular and Cellular Biology, Integrated Microscopy Core, Baylor College of Medicine, Houston, TX, USA., Ripollés-Yuba C; Biochemistry and Molecular and Cell Biology, Aragón Health Research Institute (IIS-Aragón), University of Zaragoza, Zaragoza, Spain., Marco-Brualla J; Biochemistry and Molecular and Cell Biology, Aragón Health Research Institute (IIS-Aragón), University of Zaragoza, Zaragoza, Spain., Junquera C; Anatomy and Human Histology Department, Faculty of Medicine, University of Zaragoza/IIS-Aragón, Zaragoza, Spain., Martínez-De-Mena R; Carlos III National Center for Cardiovascular Research, Madrid, Spain., Enríquez JA; Carlos III National Center for Cardiovascular Research, Madrid, Spain., Price MR; Promontory Therapeutics Inc, New York, NY, USA., Jimeno J; Biochemistry and Molecular and Cell Biology, Aragón Health Research Institute (IIS-Aragón), University of Zaragoza, Zaragoza, Spain.; Promontory Therapeutics Inc, New York, NY, USA., Anel A; Biochemistry and Molecular and Cell Biology, Aragón Health Research Institute (IIS-Aragón), University of Zaragoza, Zaragoza, Spain. anel@unizar.es.

Publikováno v: Journal of translational medicine [J Transl Med] 2024 Oct 11; Vol. 22 (1), pp. 927. Date of Electronic Publication: 2024 Oct 11.