Zobrazeno 1 - 4
of 4
pro vyhledávání: '"R I Ortiz de Luna"'
Publikováno v:
Genome Research. 6:1050-1055
Pycnodysostosis (MIM 265800) is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility. Linkage analysis localized the disease gene to human chromosome 1q21, and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e39f858f10fdcae63eaa3889f33e95
https://doi.org/10.1101/gr.6.11.1050
https://doi.org/10.1101/gr.6.11.1050
Autor:
F, Flores Ramírez, M, Abreu González, C, García Delgado, A, Aparicio Onofre, R, Guevara Yáñez, R, Sánchez Urbina, T, Murguía Peniche, M A, Ramírez-Ortíz, D, Ibarra Ríos, R I, Ortiz de Luna, A B, Cervantes Peredo, V F, Morán Barroso
Publikováno v:
Genetic counseling (Geneva, Switzerland). 21(4)
We describe a patient who had multiple malformations including ventriculomegaly, colpocephaly, corpus callosum, cerebellum and vermix hypoplasia, optic nerve hypoplasia, corneal opacity and congenital heart disease in whom a trisomy 1q32-qter and mon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::baeb516759bf06146639b50402107d1b
https://pubmed.ncbi.nlm.nih.gov/21290965
https://pubmed.ncbi.nlm.nih.gov/21290965
Autor:
Susan E. Ide, Rosa Isela Ortiz De Luna, Clair A. Francomano, M. H. Polymeropoulos, R. I. Ortiz De Luna
Publikováno v:
Human genetics. 98(5)
Ellis van Creveld syndrome (EVC) is an autosomal recessive disorder which has previously been mapped to human chromosome 4p16.1. This disorder is characterized by disproportionate dwarfism, polydactyly, cleft palate, natal teeth, and congenital heart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62c436bbc7e4c08e77ef76c95de84efa
https://pubmed.ncbi.nlm.nih.gov/8882877
https://pubmed.ncbi.nlm.nih.gov/8882877
Autor:
A, Rojas-Martínez, M C, Villalobos-Torres, R I, Ortiz-de-Luna, M T, Pompa-Garza, H A, Barrera-Saldaña
Publikováno v:
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 48(2)
The genomic DNAs of carrier mothers from 20 hemophilia A unrelated Mexican families were analysed by polymerase chain reaction (PCR) amplification of the Bcl I polymorphic region at intron 18 of the factor VIII gene. Eleven women (55%) were found to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::10648348b3eb83a882ed103937d83877
https://pubmed.ncbi.nlm.nih.gov/8815496
https://pubmed.ncbi.nlm.nih.gov/8815496