Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Mary A. Telfer"'
Publikováno v:
Clinical Genetics. 17:428-432
A de novo partial 13q monosomy is reported in a severely affected 8-year-old female with the karyotype 46,XX,del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08fded90748341488a61f023154f7276
https://doi.org/10.1111/j.1399-0004.1980.tb00175.x
https://doi.org/10.1111/j.1399-0004.1980.tb00175.x
Autor:
Mary A. Telfer, Ali Kalamchi, Nina L. Steg, Henry R. Cowell, Constance E. Clark, John M. Opitz
Publikováno v:
American Journal of Medical Genetics. 11:37-42
We describe a 19-year-old woman who has a duplication of 4p. The karyotype is 46,XX, - 14, + der(14),t(4;14) (p15;p12)mat in lymphocytes and skin fibroblasts. The patient has coarse hair, prominent forehead and tip of nose, coloboma, scoliosis, and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::803b234ab908faf7368dafa91a920e1a
https://doi.org/10.1002/ajmg.1320110106
https://doi.org/10.1002/ajmg.1320110106
Publikováno v:
American Journal of Medical Genetics. 5:171-178
Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25 leads to 6qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edc56c886bc065e7017c12c57f957f57
https://doi.org/10.1002/ajmg.1320050211
https://doi.org/10.1002/ajmg.1320050211
Publikováno v:
American Journal of Medical Genetics. 12:57-62
We report a girl with shortness of stature and minor anomalies representing a mild form of the Ullrich-Turner syndrome. Cytogenetic studies showed 3 distinct anomalies: 1) a familial pericentric inversion, inv(3) (p25q21)pat, in all cells examined; 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48297b255ac89d66cbcda66973b21e4b
https://doi.org/10.1002/ajmg.1320120108
https://doi.org/10.1002/ajmg.1320120108
Publikováno v:
Biochemical Medicine. 3:230-243
A novel procedure has been developed for the assay of hypoxanthineguanine phosphoribosyl transferase (EC2.4.2.8.) and adenine phosphoribosyl transferase (EC2.4.2.7.). The assay is based on the precipitation by lanthanum chloride of 14 C-labeled IMP,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef93a4afe5b8f404a1fc9751c5905878
https://doi.org/10.1016/0006-2944(69)90022-2
https://doi.org/10.1016/0006-2944(69)90022-2
Autor:
Mary A. Telfer, F. L. Hisaw
Publikováno v:
Acta Endocrinologica. 25:390-404
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32be5d0e676a020d5278fa852501b0a6
https://doi.org/10.1530/acta.0.0250390
https://doi.org/10.1530/acta.0.0250390
Publikováno v:
American Journal of Psychiatry. 134:687-689
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85c4c457eb8150b50c0c944d8bcc9e4a
https://doi.org/10.1176/ajp.134.6.687
https://doi.org/10.1176/ajp.134.6.687
Publikováno v:
The British journal of psychiatry : the journal of mental science. 129
SummaryA sample of 471 enlisted men 183 cm or taller serving in the US Navy, Coast Guard, and Marine Corps was screened for Y-chromosome aneuploidy by use of quinacrine fluorescence of peripheral blood smears. Two 47, XYY males were detected, resulti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f989426cb762efd4d57d82be5c09c339
https://pubmed.ncbi.nlm.nih.gov/1000141
https://pubmed.ncbi.nlm.nih.gov/1000141
Publikováno v:
American journal of medical genetics. 7(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a28a2dffb3ab08819cf9cf0a1af9315
https://pubmed.ncbi.nlm.nih.gov/7211950
https://pubmed.ncbi.nlm.nih.gov/7211950
Publikováno v:
Journal of mental deficiency research. 17(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e65e46adf5033133e46b441fb1fa1732
https://pubmed.ncbi.nlm.nih.gov/4795019
https://pubmed.ncbi.nlm.nih.gov/4795019