Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Salvador Armendares"'
Publikováno v:
Clinical Genetics. 13:17-24
Partial 2p trisomy was diagnosed (by the G-banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent-1 meiotic segregati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af4a214bf2c34e7aec83ccca26f5ac40
https://doi.org/10.1111/j.1399-0004.1978.tb04125.x
https://doi.org/10.1111/j.1399-0004.1978.tb04125.x
Publikováno v:
Clinical Genetics. 4:291-296
Two male sibs (46, XY) with normal penis and scrotum as well as bilateral cryptorchidism are reported. Intraabdominal uterus and Fallopian tubes were found. The pathogenesis and the possible inheritance of this developmental defect are discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e9a6db0c15665126fbc0480e511dc34
https://doi.org/10.1111/j.1399-0004.1973.tb01160.x
https://doi.org/10.1111/j.1399-0004.1973.tb01160.x
Publikováno v:
Clinical Genetics. 8:370-375
In a mentally retarded and malformed boy who died at 6 months of age a ring chromosome 6 was identified by G banding. Clinical, cytogenetical and post-mortem findings are discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d629e59d1be87ce3bd0ff7f75e3bb5ab
https://doi.org/10.1111/j.1399-0004.1975.tb01516.x
https://doi.org/10.1111/j.1399-0004.1975.tb01516.x
Autor:
Salvador, Armendares
Publikováno v:
Gaceta medica de Mexico. 150(4)
This paper gives an analysis of Dr. Salvador Armendares' exile and professional career, with the aim of exploring the relation between the intellectual contributions of the second generation of Spanish refugees in Mexico and the origins of medical ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::32b2b8a627dcd6ddecde2b28dedac2ad
https://pubmed.ncbi.nlm.nih.gov/25098222
https://pubmed.ncbi.nlm.nih.gov/25098222
Publikováno v:
Nature. 232:271-273
THERE is evidence that DNA replication and protein synthesis are affected when animals are subjected to nutritional deficiency comparable with severe malnutrition in humans1–7. There is some evidence of similar abnormalities in children with advanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::461cab88e88de235c024f238cb3c3d86
https://doi.org/10.1038/232271a0
https://doi.org/10.1038/232271a0
Autor:
Josefina Hernández Sánchez, Fabio Salamanca-Gómez, John M. Opitz, Richardo Cortès, Salvador Armendares
Publikováno v:
American journal of medical genetics. 10(4)
In a 29-year-old male with severe mental retardation, hypogenitalism, and congenital malformations we identified a 49,XXXYY chromosome constitution by Q, G, and C banding techniques. The clinical, cytogenetic, and endocrine findings are discussed and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76cf7f40c6a1c775290751babdcafc87
https://pubmed.ncbi.nlm.nih.gov/7199254
https://pubmed.ncbi.nlm.nih.gov/7199254
Publikováno v:
Scopus-Elsevier
The question of whether the 6-P-GD system is located in chromosome 21 was approached in 2 ways: by measuring the erythrocyte 6-P-GD levels in children with Down's syndrome, and by studying the segregation of the electrophoretic variants of this enzym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfdbaef47b75be3b30769f627644ddc
https://pubmed.ncbi.nlm.nih.gov/4260604
https://pubmed.ncbi.nlm.nih.gov/4260604
Publikováno v:
American journal of diseases of children (1960). 113(2)
DIAGNOSIS of Down's syndrome (mongolism) is mainly based on physical signs. To these, chromosome studies have been recently added. The latter have made possible the differentiation of three types: the classical trisomic, the translocated, and the mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8fae1a54be5f26d4eba38317835ba8
https://pubmed.ncbi.nlm.nih.gov/4225312
https://pubmed.ncbi.nlm.nih.gov/4225312
Publikováno v:
The Journal of Pediatrics. 87:842
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::882a8131948e40bf9bb12e9f12690757
https://doi.org/10.1016/s0022-3476(75)80339-8
https://doi.org/10.1016/s0022-3476(75)80339-8