Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Miriam G. Wilson"'
Publikováno v:
Clinical Genetics. 17:335-340
A girl with trisomy-21/normal mosaicism has been observed for approximately 10 years. Her appearance is reminiscent of, but not typical for Down's syndrome, and her intellectual abilities are impaired but not to the same severe degree expected in Dow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::477992b6c8203256c9df643f7b1fc463
https://doi.org/10.1111/j.1399-0004.1980.tb00159.x
https://doi.org/10.1111/j.1399-0004.1980.tb00159.x
Publikováno v:
Clinical Genetics. 12:1-8
Karyotypes from 50 persons with retinoblastoma confirmed by histopathological examination were studied by conventional staining and Giemsa-banding techniques. Two chromosomal anomalies were found. An interstitial deletion of the long arm of No. 13 ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917cf07dea460efeec27a84d0b6bccac
https://doi.org/10.1111/j.1399-0004.1977.tb00894.x
https://doi.org/10.1111/j.1399-0004.1977.tb00894.x
Publikováno v:
Clinical Genetics. 21:107-111
Two children born to the same mother but two different fathers have brachydactyly in which the proximal phalanges of all the digits are shortened. The mother's hands are normal. The same condition occurring in two half-siblings born to a non-affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0a93f52c9a1684267026359b9f4aa6
https://doi.org/10.1111/j.1399-0004.1982.tb00745.x
https://doi.org/10.1111/j.1399-0004.1982.tb00745.x
Publikováno v:
Teratology. 45:285-292
The birth prevalence of Down syndrome (DS), although decreasing in parts of the world, is not known in many specific subpopulations. The rate of DS for live births was determined for a 15-year period (1974-1988) at the Los Angeles County-University o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bead77dfbab933548e5ff6a359f4a7a
https://doi.org/10.1002/tera.1420450307
https://doi.org/10.1002/tera.1420450307
Publikováno v:
The Journal of pediatrics. 149(2)
Testicular microlithiasis (TM) occurs with benign as well as with pathological conditions, such as testicular cancer. Since Down syndrome (DS) may be associated with increased frequency of testicular cancer, we determined the prevalence of TM in DS i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98adee19fc38655f960557a4c665e8f7
https://pubmed.ncbi.nlm.nih.gov/16887441
https://pubmed.ncbi.nlm.nih.gov/16887441
Autor:
Atsuko Fujimoto, Miriam G. Wilson
Publikováno v:
Human genetics. 84(3)
Postnatal growth records of 13 patients with Wolf-Hirschhorn syndrome indicate that the syndrome is associated with continuing severe growth retardation and marked microcephaly. In spite of severe retardation, these patients (with one exception) surv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::022cd755e1e59ce30ec4031db74b75b2
https://pubmed.ncbi.nlm.nih.gov/2303250
https://pubmed.ncbi.nlm.nih.gov/2303250
Publikováno v:
American Journal of Medical Genetics. 21:771-775
Frequency of fragile X expression was investigated before and after cryopreservation (-196 degrees C) in the blood of 4 affected males, 3 fragile X carriers and in a fibroblast cell strain from a fragile X male fetus. The results indicate that there
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c09ebf2b71b82fb58bfd900034a37c43
https://doi.org/10.1002/ajmg.1320210421
https://doi.org/10.1002/ajmg.1320210421
Autor:
Miriam G. Wilson, Nancy W. Shinno, William D. Boelter, Kenneth L. Jones, John M. Opitz, Ronald V. Lacro, Atsuko Fujimoto, James F. Reynolds, Mark H. Lipson
Publikováno v:
American Journal of Medical Genetics. 27:943-951
We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed ears, and branchial cleft sinuses and/or linear sk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a56f5b2250926e4e24e2ae2e5574d1
https://doi.org/10.1002/ajmg.1320270422
https://doi.org/10.1002/ajmg.1320270422
Publikováno v:
Humangenetik. 27:67-73
An infant with multiple congenital anomalies was found to have a duplication-deficiency disorder involving chromosome No. 8. The abnormality was identified as an unbalanced recombinant inherited from the mother who was a carrier of a pericentric inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f69d8f5db1d6c9d230b2accf3b8e35b
https://doi.org/10.1007/bf00283508
https://doi.org/10.1007/bf00283508
Publikováno v:
American Journal of Obstetrics and Gynecology. 126:247-252
Needle puncture of the fetus has rarely been reported with midtrimester amniocentesis. This paper contains the report of five cases of needle scars in infants born after second-trimester amniocentesis for prenatal diagnosis of fetal genetic disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3aecf8736c06376a0c21c86fa815a9
https://doi.org/10.1016/0002-9378(76)90285-4
https://doi.org/10.1016/0002-9378(76)90285-4