Zobrazeno 1 - 10
of 28
pro vyhledávání: '"A. Quintana Castilla"'
Publikováno v:
Anales de Pediatría, Vol 52, Iss 3, Pp 289-295 (2000)
El síndrome de Cohen es un trastorno autosómico recesivo que se caracteriza por la asociación de obesidad, hipotonía, retraso mental, microcefalia, dismorfia craneofacial típica, miopía y distrofia coriorretiniana. Se ha localizado el locus par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9513170a9cbe6741080107998cdf0c06
https://doi.org/10.1016/s1695-4033(00)77342-5
https://doi.org/10.1016/s1695-4033(00)77342-5
Publikováno v:
Anales espanoles de pediatria. 57(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc81049e0a02eb69285cd630625f0d60
https://pubmed.ncbi.nlm.nih.gov/12466091
https://pubmed.ncbi.nlm.nih.gov/12466091
Publikováno v:
Anales espanoles de pediatria. 52(3)
Cohen syndrome is an autosomal recessive disorder characterized by hypotonia, mental retardation, microcephalia, typical craniofacial features, myopia and chorioretinal dystrophy. The responsible gene has been mapped to chromosome 8q 22 (COH 1). Sinc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85817a8fd3f52293de42ada26d38f95a
https://pubmed.ncbi.nlm.nih.gov/11003912
https://pubmed.ncbi.nlm.nih.gov/11003912
Publikováno v:
Anales espanoles de pediatria. 51(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::645adb33400e9b9d0b2287dfe0f0c930
https://pubmed.ncbi.nlm.nih.gov/10652806
https://pubmed.ncbi.nlm.nih.gov/10652806
Autor:
M T, Díaz López, G, Lorenzo Sanz, A, Quintana Castilla, C, Esteve de Pablo, J M, Aparicio Meix
Publikováno v:
Anales espanoles de pediatria. 44(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::24bf23dbbbe28d9257d04b28841d28c2
https://pubmed.ncbi.nlm.nih.gov/8928981
https://pubmed.ncbi.nlm.nih.gov/8928981
Publikováno v:
Anales de Pediatría, Vol 57, Iss 6, Pp 588-589 (2002)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c60cc34f77f48b0bcd83368983802f2
https://doi.org/10.1016/s1695-4033(02)78727-4
https://doi.org/10.1016/s1695-4033(02)78727-4
Autor:
G, Lorenzo Sanz, C, Serna Saugar, A, Quintana Castilla, C, Lozano Giménez, J M, Aparicio Meix
Publikováno v:
Anales espanoles de pediatria. 39(1)
The dysmorphogenic and teratogenic effects of valproic acid, when administered to pregnant women, have been noted in several reports. We report the case of a 3-month-old infant with multiple congenital anomalies, including severe skeletal malformatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::47d7e9a3eecdedd4adce97981e766035
https://pubmed.ncbi.nlm.nih.gov/8363144
https://pubmed.ncbi.nlm.nih.gov/8363144
Autor:
G, Lorenzo Sanz, R, Barrios Castellanos, A, Quintana Castilla, J, Corbatón Blasco, C, García Lacalle
Publikováno v:
Revista clinica espanola. 184(3)
We report 2 generations with type C hereditary brachydactyly of dominant autosomal inheritance of variable expressiveness. The most characteristic data was the shortening of the middle phalanges of the second, third and fifth finger as well as the fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1dd6d842801592b25d6baa30650a8147
https://pubmed.ncbi.nlm.nih.gov/2717793
https://pubmed.ncbi.nlm.nih.gov/2717793
Publikováno v:
Anales espanoles de pediatria. 29(6)
Digital and palmar dermatoglyphic patterns of 155 children with cryptorchidy has been studied. Results were compared to two control groups of Spanish normal population. 50 and 300 males respectively, showing the following statistically significant di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c6f2ed4b8d2b5c1dc454eeafb69f6e53
https://pubmed.ncbi.nlm.nih.gov/2907718
https://pubmed.ncbi.nlm.nih.gov/2907718
Autor:
J M, Romeo Orbegozo, T, Antón Garrido, F, Sanz Martín, M, González Molina, A, Quintana Castilla
Publikováno v:
Revista clinica espanola. 115(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0dcf1ff91dc71ce7f19e8e39131b114d
https://pubmed.ncbi.nlm.nih.gov/5403727
https://pubmed.ncbi.nlm.nih.gov/5403727