Zobrazeno 1 - 8
of 8
pro vyhledávání: '"E S, Cantú"'
Publikováno v:
Journal of perinatology : official journal of the California Perinatal Association. 18(1)
Chromosomal analysis of fetal cells is a commonly used, safe, and highly accurate procedure. The rate of false-negative results is unknown. Recent experience at four centers suggests that there may be a particular likelihood for mosaic trisomy 8 to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41a3da8c2c24d7366daae4f7d06ec314
https://pubmed.ncbi.nlm.nih.gov/9527951
https://pubmed.ncbi.nlm.nih.gov/9527951
Publikováno v:
Scopus-Elsevier
Colony stimulating factor-2 receptor alpha (CSF2RA) and interleukin-3 receptor alpha (IL3RA), two genes from the chromosome Xp and Yp pseudoautosomal region (PAR), have been suggested as candidate genes for short stature in Turner syndrome. We report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a86103d709c5e5721a851ddf89fb6c7
https://europepmc.org/articles/PMC1050783/
https://europepmc.org/articles/PMC1050783/
Publikováno v:
American journal of medical genetics. 62(4)
We report on a newborn infant with multiple congenital anomalies and apparent nonmosaic trisomy 9 in the blood (by conventional cytogenetic studies) who died shortly after birth. Clinical observations at birth and autopsy are compared with phenotypes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2035315a6fe1245a8f80db3bed87e5bb
https://pubmed.ncbi.nlm.nih.gov/8723059
https://pubmed.ncbi.nlm.nih.gov/8723059
Publikováno v:
Annals of clinical and laboratory science. 25(1)
Small marker chromosomes (SMC) associated with severe Turner syndrome (TS) variants often represent reduced X chromosomes lacking the X inactivation center (XIC), perturbed dosage compensation, and unbalanced gene expression. A TS patient with mental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd21ed5f38f2a5c4d061cd5e33c5b29e
https://pubmed.ncbi.nlm.nih.gov/7762970
https://pubmed.ncbi.nlm.nih.gov/7762970
Publikováno v:
Annals of neurology. 32(4)
Angelman and Prader-Willi syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11-q13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05426fadb72d54b0edf468433c3d1cb3
https://pubmed.ncbi.nlm.nih.gov/1360787
https://pubmed.ncbi.nlm.nih.gov/1360787
Publikováno v:
American journal of mental retardation : AJMR. 94(4)
A cytogenetic survey of 67 individuals previously identified as having mental retardation and autistic behaviors revealed 1 person (1.5%) with the fragile X chromosome (fra[X]) and 3 (4.5%) with autosome abnormalities. This low prevalence of fra(X) i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6795563f18135f20af72b74dd0176e91
https://pubmed.ncbi.nlm.nih.gov/2297426
https://pubmed.ncbi.nlm.nih.gov/2297426
Autor:
Patricia A. Jacobs, E. S. Cantú
Publikováno v:
Human genetics. 67(1)
The fragile (X) chromosome demonstrable in individuals with one type of X-linked mental retardation is seldom, if ever, seen in more than 50% of cells of affected individuals. We have devised a model to explain this apparent 50% maximum, one essentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e10efd42d72802d42936c0ff033d1dd
https://pubmed.ncbi.nlm.nih.gov/6235168
https://pubmed.ncbi.nlm.nih.gov/6235168
Publikováno v:
American journal of human genetics. 43(6)
The molecular basis of C-banding was investigated by in situ hybridization of human Y chromosome-derived repeated sequences, DYZ1 and DYZ2, to untreated or to alkaline-treated metaphases. Autoradiography of G-banded metaphases showed that both probes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f8ef5db8bf8102a97f6b6790829da323
https://pubmed.ncbi.nlm.nih.gov/3195592
https://pubmed.ncbi.nlm.nih.gov/3195592