Zobrazeno 1 - 10
of 138
pro vyhledávání: '"M, Preus"'
Autor:
Alyssa I. Clay-Gilmour, Theresa Hahn, Leah M. Preus, Kenan Onel, Andrew Skol, Eric Hungate, Qianqian Zhu, Christopher A. Haiman, Daniel O. Stram, Loreall Pooler, Xin Sheng, Li Yan, Qian Liu, Qiang Hu, Song Liu, Sebastiano Battaglia, Xiaochun Zhu, AnneMarie W. Block, Sheila N.J. Sait, Ezgi Karaesmen, Abbas Rizvi, Daniel J. Weisdorf, Christine B. Ambrosone, David Tritchler, Eva Ellinghaus, David Ellinghaus, Martin Stanulla, Jacqueline Clavel, Laurent Orsi, Stephen Spellman, Marcelo C. Pasquini, Philip L. McCarthy, Lara E. Sucheston-Campbell
Publikováno v:
Blood Advances, Vol 1, Iss 20, Pp 1717-1728 (2017)
Abstract: The incidence and mortality rates of B-cell acute lymphoblastic leukemia (B-ALL) differ by age and sex. To determine if inherited genetic susceptibility contributes to these differences we performed 2 genome-wide association studies (GWAS)
Externí odkaz:
https://doaj.org/article/0de20af71b0145c2ae5ba542c99c7d9f
Autor:
Doris M. Preus, William S. Herman
Publikováno v:
Journal of morphology. 140(1)
Evidence suggesting the existence of two types of neurosecretory cells in each abdominal ganglion of Limulus polyphemus has been obtained by light and electron microscopy. After Helly fixation the two cell types are readily distinguished from other n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e66524d38ed09e514d658b0c7a521653
https://pubmed.ncbi.nlm.nih.gov/30352494
https://pubmed.ncbi.nlm.nih.gov/30352494
Akademický článek
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Autor:
F. C. Fraser, M. Preus
Publikováno v:
Clinical Genetics. 5:294-297
A patient with the Cerebro-Oculo-Facio-Skeletal syndrome is described. The phenotype of the syndrome has been extended somewhat and autosomal recessive inheritance further supported by the finding of parental consanguinity.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5308a5ca36337bf7c3ac3b5f4e78a27
https://doi.org/10.1111/j.1399-0004.1974.tb01696.x
https://doi.org/10.1111/j.1399-0004.1974.tb01696.x
Publikováno v:
Clinical Genetics. 26:52-55
The phenotypic findings of three patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter---q1 to q3). One with an extra, small acrocentric chromosome and another with a trisomy due to an inherited C/G t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed5422d2c102e148d639bf8f56c91168
https://doi.org/10.1111/j.1399-0004.1984.tb00788.x
https://doi.org/10.1111/j.1399-0004.1984.tb00788.x
Autor:
M. Preus
Publikováno v:
Clinical Genetics. 25:422-428
Fifty-two patients referred for suspicion of the Williams syndrome have been evaluated and divided into those with and without the syndrome by numerical analysis. A diagnostic index using 50 characters separates patients into two groups with an expec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a951a496fa3c6ee262fbbeb290ae512
https://doi.org/10.1111/j.1399-0004.1984.tb02011.x
https://doi.org/10.1111/j.1399-0004.1984.tb02011.x
Autor:
M. Preus
Publikováno v:
Clinical Genetics. 25:429-434
A diagnostic index has been devised to distinguish between the Noonan and the Williams syndromes. Twins from the literature reported as having the Williams syndrome more likely represent the Noonan syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c7de690a46d00db970c094c8ad78d77
https://doi.org/10.1111/j.1399-0004.1984.tb02012.x
https://doi.org/10.1111/j.1399-0004.1984.tb02012.x
Autor:
M. Preus
Publikováno v:
Clinical Genetics. 12:47-55
A simple and effective index for the diagnosis of Down syndrome is presented. It makes use of 12 characters with from two to nine states. The simple format allows persons with limited knowledge of the characters to use it. Simplicity was attained by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26152030824329afcc77909685366912
https://doi.org/10.1111/j.1399-0004.1977.tb00900.x
https://doi.org/10.1111/j.1399-0004.1977.tb00900.x
Publikováno v:
Clinical Genetics. 23:1-16
A set of descriptors was developed and used to code patients with 4p or 9p monosomy or trisomy, "blind" as to their karyotype. Techniques of numerical taxonomy were used to classify the patients on the basis of their phenotypic resemblance. As expect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ef321ccf5b75a1bec2f60a1fc051b6
https://doi.org/10.1111/j.1399-0004.1983.tb00430.x
https://doi.org/10.1111/j.1399-0004.1983.tb00430.x
Autor:
F. C. Fraser, M. Preus
Publikováno v:
Clinical Genetics. 4:369-375
A patient with the lobster claw defect, ectodermal defect, and tear duct and renal anomalies is described. An argument is presented for grouping this patient with other patients with lobster claw defect, ectodermal defects and tear duct anomalies who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63731823990fba0d2e8fdeded1f1f4a9
https://doi.org/10.1111/j.1399-0004.1973.tb01162.x
https://doi.org/10.1111/j.1399-0004.1973.tb01162.x