Zobrazeno 1 - 10
of 539
pro vyhledávání: '"Sharon L, Wenger"'
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was m
Externí odkaz:
https://doaj.org/article/660e82dc741b472dbe5e0beb302b83e9
Autor:
Jasen L Wise, Richard J Crout, Daniel W McNeil, Robert J Weyant, Mary L Marazita, Sharon L Wenger
Publikováno v:
PLoS ONE, Vol 4, Iss 6, p e5855 (2009)
Five percent of patients with unexplained mental retardation have been attributed to cryptic unbalanced subtelomeric rearrangements. Half of these affected individuals have inherited the rearrangement from a parent who is a carrier for a balanced tra
Externí odkaz:
https://doaj.org/article/d4fb83dac91f421197c63e42952296d4
Autor:
Jasen L Wise, Richard J Crout, Daniel W McNeil, Robert J Weyant, Mary L Marazita, Sharon L Wenger
Publikováno v:
PLoS ONE, Vol 4, Iss 6, p e6013 (2009)
The majority of human telomere length studies have focused on the overall length of telomeres within a cell. In fact, very few studies have examined telomere length for individual chromosome arms. The objective of this study was to examine the relati
Externí odkaz:
https://doaj.org/article/96f1396eb1a14c3bb10a4694d614585b
Publikováno v:
Gorin, MB; Donahue, SP; Wenger, SL; & Steele, MW. (2017). Broad-Spectrum Möbius Syndrome Associated with a 1;11 Chromosome Translocation. UCLA: Retrieved from: http://www.escholarship.org/uc/item/9n27j2kn
The authors report a case of Mobius syndrome with Poland syndrome, cleft palate, dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss. Karyotype demonstrated a t(1;11)(p22;p13) translocation in the patient and his phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255db8f10e6e8f47304e3c09bf978bd8
http://www.escholarship.org/uc/item/9n27j2kn
http://www.escholarship.org/uc/item/9n27j2kn
Publikováno v:
Clinical Genetics. 23:115-119
By fluorometric analysis of fasting phenylalanine and tyrosine plasma levels, we could discriminate classic gene PKU carriers from non-carriers with 99% confidence in 67 of 74 adults. Results on the remaining seven subjects were non-discriminating. H
Publikováno v:
International Journal of Surgical Pathology. 16:419-423
To elucidate the relationship between del(5q) and the clinical and histological features of small cell neuroendocrine lung carcinoma, 33 tissue samples from patients with this tumor were evaluated. By using fluorescence in situ hybridization, del(5q)
Publikováno v:
Journal of the Association of Genetic Technologists. 40(2)
A bone marrow biopsy of a 68-year-old woman revealed 59% blasts and immature monocytes, consistent with acute myeloid leukemia (AML) with monocytic features. Occasional hypolobated megakaryocytes and decreased iron stores were also present. A periphe
Publikováno v:
Molecular Cancer Therapeutics. 5:3153-3161
The Fanconi anemia-BRCA pathway of genes are frequently mutated or epigenetically repressed in human cancer. The proteins of this pathway play pivotal roles in DNA damage signaling and repair. Irofulven is one of a new class of anticancer agents that
Autor:
Erin H. Steed, Craig D. Rubin, Markus Schuelke, A. Konstantinow, William L. Isley, Junko Oshima, Lin Lee, Mohammed Abid, Chih-Chao Yang, Nancy B. Hanson, Emanuela Lucci-Cordisco, George M. Martin, Peter Meyer, Axel von Herbay, Da Fu Chen, Thomas Dorn, I. Saira Mian, Alexa Kidd, Sharon L. Wenger, Janet L. Vittone, Uwe Wollina, Johannes Ring, Carin R. Huizenga, Heike Juch, Catherine Lenaerts, Dru F. Leistritz, David Showalter, Roland Spiegel, Carla Battisti, Shurong Huang, Martin Poot, Elif A. Oral, Holger Hoehn, Giovanni Neri
Publikováno v:
Human Mutation. 27:558-567
The International Registry of Werner syndrome (www.wernersyndrome.org) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinc
Autor:
Benjamin L. Siu, Marybeth Hummel, James E. Coad, Sharon L. Wenger, Paul Grossfeld, Frank G. Keller
Publikováno v:
American Journal of Medical Genetics Part A. :704-708
The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female pati