Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Lester Weiss"'
Publikováno v:
Clinical Genetics. 32:75-79
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28ce2e3bb3fc1fab229e995b6ae63d5a
https://doi.org/10.1111/j.1399-0004.1987.tb03328.x
https://doi.org/10.1111/j.1399-0004.1987.tb03328.x
Autor:
Lester Weiss, Robert N. Hensinger, Mason Barr, Daniel L. Van Dyke, Stephen G. Ruby, Wayne S. Stanley
Publikováno v:
Clinical Genetics. 25:533-537
We describe two siblings with asymmetric limb reduction malformations. Such anomalies are usually considered to result from sporadic events, but the recurrence in siblings without any identifiable teratogenic insult suggests a genetic etiology. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa0e180051e0e142dcb5d99412af11c3
https://doi.org/10.1111/j.1399-0004.1984.tb00497.x
https://doi.org/10.1111/j.1399-0004.1984.tb00497.x
Autor:
Johannes G. Dauwerse, Lester Weiss, Howard M. Saal, Fred Petrij, Ruthann I. Blough, Jack H. Rubinstein, Athena Milatovich-Cherry
Publikováno v:
American Journal of Medical Genetics. 90:29-34
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3' region of the gene. In order to test t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c17c13220069a973165a247ed8b619fe
https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co
https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co
Publikováno v:
American Journal of Medical Genetics. 65:291-294
Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, cardiac anomalies, and hypotonia. We describe two patients with Toriello-Carey syndrome and call attent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e953dc4534b7c33193f345e29cbe727
https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<291::aid-ajmg9>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<291::aid-ajmg9>3.0.co
Autor:
Teresa L. Yang-Feng, B. A. Stasiowski, P. A. Jacobs, D. L. Van Dyke, J. E. Wiley, Shengyuan Luo, Joyce Axelman, Barbara R. Migeon, Mihir M. Jani, Lester Weiss
Publikováno v:
Proceedings of the National Academy of Sciences. 90:12025-12029
The severe phenotype of human females whose karyotype includes tiny ring X chromosomes has been attributed to the inability of the small ring X chromosome to inactivate. The XIST locus is expressed only from the inactive X chromosome, resides at the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5afb2d2f12cef6bdcb0545955bd3f739
https://doi.org/10.1073/pnas.90.24.12025
https://doi.org/10.1073/pnas.90.24.12025
Publikováno v:
American Journal of Medical Genetics. 47:490-493
In a description of 8 girls who had Ullrich-Turner syndrome (UTS) with a small r(X), mental retardation, and other unusual findings, it was hypothesized that the distinctive phenotype was associated with the loss of the X inactivation center from the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7cc5640b09e8c372163f6d5d32dbb76
https://doi.org/10.1002/ajmg.1320470412
https://doi.org/10.1002/ajmg.1320470412
Publikováno v:
American Journal of Medical Genetics. 47:482-486
We evaluated 10 patients with an inverted tandem duplication of 8p. Inverted duplications of chromosome 8 have been reported infrequently, and no syndrome has been previously identified. All 8 patients on whom birth histories were available were hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00796f99de9fbbfd6fa071b426a82256
https://doi.org/10.1002/ajmg.1320470410
https://doi.org/10.1002/ajmg.1320470410
Autor:
D. L. Van Dyke, Jacquelyn Roberson, M Witt, Maria J. Worsham, D A Miller, Anne E. Wiktor, Lester Weiss, C G Palmer, V R Babu
Publikováno v:
American Journal of Medical Genetics. 43:996-1005
Since some patients with Ullrich-Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high-risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f86fd3906b1f6a908aacedfa376eeae
https://doi.org/10.1002/ajmg.1320430617
https://doi.org/10.1002/ajmg.1320430617
Publikováno v:
Cancer Genetics and Cytogenetics. 48:83-87
We cytogenetically studied four cases of adenocarcinoma of the prostate. All tumors were moderately differentiated or well-differentiated, with different degrees of invasion. One tumor with microscopic seminal vesicle invasion and lymph node metastas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50f87845674f35f27485fa8a5095f018
https://doi.org/10.1016/0165-4608(90)90220-5
https://doi.org/10.1016/0165-4608(90)90220-5
Publikováno v:
American Journal of Medical Genetics. 80:112-114
We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53318f8d78564be084edff90bc077cb7
https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<112::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<112::aid-ajmg4>3.0.co