Zobrazeno 1 - 9 of 9 pro vyhledávání: '"J L, Zackowski"'
1
Cytogenetic and molecular analysis in Angelman syndrome
Autor: Roberto T. Zori, Daniel J. Driscoll, M. F. Waters, Patrick Harris, A. Bent‐Williams, W. Gottlieb, J. L. Zackowski, Brian A. Gray, C. A. Williams, R. D. Nicholls
Publikováno v: American Journal of Medical Genetics. 46:7-11
We report on cytogenetic and molecular analyses of 29 Angelman syndrome (AS) individuals ascertained in 1990 through the first National Angelman Syndrome Conference. High resolution GTG- and GBG-banded chromosomes were studied. Standard molecular ana
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f40363425757acb19c50f3a038753bd9
https://doi.org/10.1002/ajmg.1320460104
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2
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies
Autor: Joris A. Veltman, E. Crawford, Rolph Pfundt, L. E. L. M. Vissers, H. Creswick, V. K. Proud, Pawel Stankiewicz, Svetlana A. Yatsenko, Weimin Bi, B. B. A. De Vries, James R. Lupski, J. L. Zackowski, Carlo Marcelis, A. Geurts van Kessel
Publikováno v: Human Genetics, 121, 697-709
Human Genetics
Human Genetics, 121, 6, pp. 697-709
Contains fulltext : 53584.pdf (Publisher’s version ) (Closed access) Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought. The complicated nat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a13fdf83bedfd90b285dc279a0d0855
http://hdl.handle.net/2066/53584
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3
Molecular and cytogenetic analysis of familial Xp deletions
Autor: A E, Wandstrat, J M, Conroy, V L, Zurcher, L M, Pasztor, B A, Clark, J L, Zackowski, S, Schwartz
Publikováno v: American journal of medical genetics. 94(2)
Five families in which an Xp deletion is segregating and two families in which an X chromosome rearrangement including a deletion of the short arm is segregating were ascertained for study. Normal fertility was seen in all families. Members from 5 of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6370a15d64efb203f736acd980fc76ad
https://pubmed.ncbi.nlm.nih.gov/11746034
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4
Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype
Autor: D J, Wolff, S, Schwartz, T, Montgomery, J L, Zackowski
Publikováno v: American journal of medical genetics. 77(5)
X inactivation is the process by which mammalian females achieve dosage compensation by transcriptionally silencing one X chromosome. In chromosomally normal females, this process is random. However, most females with one abnormal X chromosome demons
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5120f4c00a3aed875fb69aa59281bd28
https://pubmed.ncbi.nlm.nih.gov/9632170
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5
Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature
Autor: S, Schwartz, T W, Depinet, J, Leana-Cox, N B, Isada, E M, Karson, V M, Park, L M, Pasztor, L C, Sheppard, R, Stallard, D J, Wolff, A B, Zinn, V L, Zurcher, J L, Zackowski
Publikováno v: American journal of medical genetics. 71(1)
Fluorescence in situ hybridization (FISH) using biotin labeled X- and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d9df832b2b05da42f4be08c6c7a999c6
https://pubmed.ncbi.nlm.nih.gov/9215760
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6
Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p
Autor: L G, Leichtman, J L, Zackowski, P D, Storto, A, Newlin
Publikováno v: American journal of medical genetics. 63(3)
Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9c42cd8005ee27dfd3908652900cceef
https://pubmed.ncbi.nlm.nih.gov/8737648
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7
Molecular Analysis in Angelman Syndrome. Prader-Willi Syndrome and Potental Mouse Models
Autor: R. T. Zori, Maria J. Mascari, W. Gottlieb, D. J. Driscoll, M. F. Waters, G. S. Pai, Merlin G. Butler, P. E. Neumann, J. L. Zackowski, C. A. Williams, B. Horsthemke, Roger L. Ladda, Peter K. Rogan, E. M. Rinchik, Robert D. Nicholls
Publikováno v: Prader-Willi Syndrome ISBN: 9783642842856
Deletions or uniparental disomy for human chromosome 15q11q13 result in Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS), depending upon the respective parental origin. Clinical and cytogenetic aspects of the two disorders are covered elsewhere
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::63f83c1dd80e746fbf00803714f82031
https://doi.org/10.1007/978-3-642-84283-2_6
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8
A paternal balanced translocation [t(7;22)(q32;q13.3)] leading to reciprocal unbalanced karyotypes in two consecutive pregnancies
Autor: J L, Zackowski, L J, Raffel, L D, McDaniel, S, Schwartz
Publikováno v: Annales de genetique. 33(2)
A family is reported in which a man with a balanced reciprocal translocation [46,XY,t(7;22)(q32;q13.3)] fathered a daughter who was trisomic for the region 7q32----7qter and monosomic for 22q13.3----22qter, and a male fetus who was monosomic for 7q32
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::33de3bd342f19fdad903bfbe3701fdb0
https://pubmed.ncbi.nlm.nih.gov/2241085
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