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Publikováno v:
Archives of Andrology. 46:205-210
The aim of this study was to determine the prevalence of alterations and normal variable chromosome features in males from infertile couples. Karyotyping was performed to 84 men attending the infertility clinic at the Hospital Clinic i Provincial of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb374975fdceb874f2ff43047ff1f75
https://doi.org/10.1080/01485010151096504
https://doi.org/10.1080/01485010151096504
Publikováno v:
Pediatric Dermatology. 14:441-445
Trichothiodystrophy (TTD) is a hair abnormality that may be associated with a large number of alterations affecting the skin phenotype and skin appendages, nervous system, eyes, bones, and immune, gonadal, and endocrine systems. We report the first c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::941e17639bdbf8e9ac7faed154adfcb0
https://doi.org/10.1111/j.1525-1470.1997.tb00685.x
https://doi.org/10.1111/j.1525-1470.1997.tb00685.x
Autor:
Julio Pascual, Jordi Ara, A. Botey, F Ballesta, L Pérez, Elisabeth Coll, Darnell A, Roser Torra
Publikováno v:
Nephrology Dialysis Transplantation. 12:1040-1042
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::763efcf646394d9495f5a64ba609f5db
https://doi.org/10.1093/ndt/12.5.1040
https://doi.org/10.1093/ndt/12.5.1040
Publikováno v:
Clinical genetics. 68(1)
Wilson disease (WD) is a copper metabolism disorder characterized by hepatic and/or neurological damage. More than 200 mutations in the ATP7B gene causing this autosomal recessive defect have been reported. In certain populations, a high prevalence o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4155b179ed5aa27d6c516e7aede05de2
https://pubmed.ncbi.nlm.nih.gov/15952988
https://pubmed.ncbi.nlm.nih.gov/15952988
Autor:
F J, Arrufat, R, Diaz, R, Queralt, V, Navarro, T, Marcos, G, Massana, J, Massana, F, Ballesta, R, Oliva
Publikováno v:
American journal of medical genetics. 96(1)
The presence of a polymorphic (GT)(n) repeat, a microsatellite repeat, at the human dopamine beta-hydroxylase (DBH) gene had been previously investigated in healthy people and in schizophrenic patients. The different DBH genotypes had been found to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e2014aa824da9a15d513a6a87aab83fa
https://pubmed.ncbi.nlm.nih.gov/10686559
https://pubmed.ncbi.nlm.nih.gov/10686559
Publikováno v:
Annales de genetique. 42(1)
The parental origin and the meiotic stage of non-disjunction have been determined in 139 Down syndrome patients with regular trisomy 21 and in their parents through the analysis of DNA polymorphism. The meiotic error is maternal in 91.60% cases and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3c2da615299b96273a7433e9b96b6c19
https://pubmed.ncbi.nlm.nih.gov/10214502
https://pubmed.ncbi.nlm.nih.gov/10214502
Autor:
F, Ballesta
Publikováno v:
Allergologia et immunopathologia. 26(3)
Complex diseases, including diseases of allergic origin (asthma, rhinitis, dermatitis), tend to cluster in families, suggesting the existence of a genetic predisposition that has been confirmed by the family and twin studies. However, it is difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8842336f6e858dbadc801f49186c40e
https://pubmed.ncbi.nlm.nih.gov/9675387
https://pubmed.ncbi.nlm.nih.gov/9675387
Autor:
I, Jordan García, A, Fernández López, G, Romera Modamio, J M, Rodríguez-Miguélez, F, Ballesta, J F, Aloy
Publikováno v:
Anales espanoles de pediatria. 47(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c27e5ddc640396dbca44833258c0c07e
https://pubmed.ncbi.nlm.nih.gov/9586300
https://pubmed.ncbi.nlm.nih.gov/9586300
Autor:
F, Ballesta Martínez
Publikováno v:
Anales espanoles de pediatria. 35
It is now known that chromosome disorders form a major category of genetic disease, accounting for a large proportion of all reproductive wastage, congenital malformations, and mental retardation, as well as playing an important role in the pathogene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7448c742cc88a846618f77d5f0bbea5e
https://pubmed.ncbi.nlm.nih.gov/1821556
https://pubmed.ncbi.nlm.nih.gov/1821556