Zobrazeno 1 - 10
of 15
pro vyhledávání: '"R D, Schmickel"'
Publikováno v:
Journal of Medical Genetics. 8:341-345
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d37da8b1b97f8d68620daa9f4d03fe
https://doi.org/10.1136/jmg.8.3.341
https://doi.org/10.1136/jmg.8.3.341
Publikováno v:
New England Journal of Medicine. 266:845-852
MONGOLISM is usually the result of trisomy of a small acrocentric chromosome in Group 21–22 in the Denver Classification. This is generally referred to as 21-trisomy. These patients have a somatic ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ee9995f1582013ba5b9613b4af14a97
https://doi.org/10.1056/nejm196204262661701
https://doi.org/10.1056/nejm196204262661701
Autor:
David A.H. Whiteman, Judith M. Pozsgay, R. D. Schmickel, R. Podolsky, J. Respess, J. E. Sylvester
Publikováno v:
Human genetics. 73(3)
The complete repeating unit of the human ribosomal RNA gene has been reconstructed by the cloning of approximately 27 kilobases (kb) of non-transcribed spacer. The structure of this tandemly repeated gene can now be studied in its entirety. We report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4138dc588484489f19f8200c8e68fb3d
https://pubmed.ncbi.nlm.nih.gov/3015766
https://pubmed.ncbi.nlm.nih.gov/3015766
Publikováno v:
The Journal of laboratory and clinical medicine. 86(4)
A rapid and sensitive papper electrophoretic assay for 35SO4-containing compounds was developed which allowed measurement of 35S-acid mucopolysaccharides synthesized by skin fibroblasts grown in the presence of inorganic 35S-sulfate. Fibroblasts from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8bdde75f386a0e5f361a3f595c84a651
https://pubmed.ncbi.nlm.nih.gov/170349
https://pubmed.ncbi.nlm.nih.gov/170349
Publikováno v:
Molecular biology and evolution. 1(3)
A 16-kilobase region surrounding the transcription initiation site for ribosomal DNA and including the entire ribosomal DNA transcription unit has been characterized in man and compared in higher primates. Restriction analysis of ribosomal DNA from t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::139433c31365eb65794c5ab20add84c4
https://pubmed.ncbi.nlm.nih.gov/6599965
https://pubmed.ncbi.nlm.nih.gov/6599965
Autor:
N B, Spinner, D L, Eunpu, R D, Schmickel, E H, Zackai, D, McEldrew, G R, Bunin, H, McDermid, B S, Emanuel
Publikováno v:
American journal of human genetics. 44(5)
Silver-stained chromosomes from 29 couples with a trisomy 21 offspring and from 25 control couples were studied to determine whether there was an association of nucleolar-organizing-region variants in parents of children with trisomy 21. A reproducib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd7a6bcbd1799ee16ad23f53be129050
https://pubmed.ncbi.nlm.nih.gov/2523191
https://pubmed.ncbi.nlm.nih.gov/2523191
Autor:
I L, Gonzalez, R D, Schmickel
Publikováno v:
American journal of human genetics. 38(4)
We report the 1,870-base-pair primary sequence of a human 18S rRNA gene and propose a secondary structure based on this sequence and the general mammalian structure. A basic secondary structure for the small subunit rRNA has been preserved throughout
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8dfb0483fcbc0a47a33e49903bdc555
https://pubmed.ncbi.nlm.nih.gov/2422931
https://pubmed.ncbi.nlm.nih.gov/2422931
Publikováno v:
American journal of human genetics. 32(6)
Restriction endonuclease analysis of HeLa cells and cells in which origins have been questioned provides evidence in favor of a HeLa cell origin for the questioned cells. Digestion of cellular human DNA reveals a variable ribosomal DNA (rDNA) fragmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7b16c834271a0ccc442236a6cdd89945
https://pubmed.ncbi.nlm.nih.gov/6255797
https://pubmed.ncbi.nlm.nih.gov/6255797
Publikováno v:
Pediatrics. 60(2)
Two unrelated children, a boy 2 1/2 years old and a girl 4 years old, were affected with the cachectic dwarfism of Cockayne syndrome. Fibroblast cultures derived from these patients exhibited increased sensitivity to ultraviolet (UV) light, but not t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2aa4fe812cedad1c2b92bf8454ab4fb0
https://pubmed.ncbi.nlm.nih.gov/887325
https://pubmed.ncbi.nlm.nih.gov/887325
Publikováno v:
Journal of molecular and applied genetics. 2(2)
Although the human rDNA gene family is organized in clusters of tandem repeats on five pairs of acrocentric chromosomes, all rDNA genes have undergone a "concerted" evolution resulting in a homogeneous population of genes. Two steps are necessary for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::793027603395ba5d5ac24bf07572caf9
https://pubmed.ncbi.nlm.nih.gov/6875425
https://pubmed.ncbi.nlm.nih.gov/6875425