Zobrazeno 1 - 10
of 46
pro vyhledávání: '"A. Bent‐Williams"'
Autor:
Kory Keller, Randy L. Carter, Charles A. Williams, Paul W. Wharton, Roberto T. Zori, Margaret R. Wallace, Angie Ward, Angela Bent-Williams, Brian A. Gray, Heather J. Stalker, Martha F. Paulk
Publikováno v:
American Journal of Medical Genetics Part A. :105-111
To assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G-banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8499253df1ee209179832d971eeefe85
https://doi.org/10.1002/ajmg.a.10042
https://doi.org/10.1002/ajmg.a.10042
Publikováno v:
Clinical Genetics. 60:73-76
The absence of a sex chromosome in conjunction with the presence of a marker chromosome generally implicates a sex chromosome origin for such marker chromosomes. These types of findings are frequently associated with Ullrich-Turner syndrome. We repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8124895a47f7e8ad6df6e18ddbf9d703
https://doi.org/10.1034/j.1399-0004.2001.600112.x
https://doi.org/10.1034/j.1399-0004.2001.600112.x
Autor:
Sonja A. Rasmussen, Virginia Dixon-Wood, John A. Nackashi, Brian A. Gray, Charles A. Williams, Lisa A. Rimer, Fatih Z. Boyar, Roberto T. Zori, William N. Williams, Angela Bent-Williams, Heather J. Stalker, Daniel J. Driscoll
Publikováno v:
American Journal of Medical Genetics. 77:8-11
Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d5332d1cc966e5000d4da9daf605b29
https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<8::aid-ajmg2>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<8::aid-ajmg2>3.0.co
Autor:
Andres Bhatia, Brian A. Gray, Robert Zori, Russell L. Maiese, Julie Wadsworth, Angela Bent-Williams
Publikováno v:
Cancer Genetics and Cytogenetics. 98:20-27
We report a jumping translocation involving a donor chromosome 1 long arm in a case of aggressive B-cell non-Hodgkin lymphoma (NHL). Conventional cytogenetic banding studies demonstrated a breakpoint distal to the heterochromatic region of the donor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33be4ba664960e39397eb319845419b4
https://doi.org/10.1016/s0165-4608(96)00409-8
https://doi.org/10.1016/s0165-4608(96)00409-8
Autor:
Sonja A. Rasmussen, Elia M. Ayoub, John W. Sleasman, Heather J. Stalker, Angela Bent-Williams, Brian A. Gray, Charles A. Williams, Roberto T. Zori
Publikováno v:
American Journal of Medical Genetics. 64:546-550
We report on two patients with velo-cardio-facial syndrome (VCFS) and juvenile rheumatoid arthritis (JRA). The first, a 9-year-old girl, presented with microcephaly, characteristic face, congenital heart disease, and velopharyngeal insufficiency. Flu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b9c676fffdb2c90a9bf547e855a9a74
https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<546::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<546::aid-ajmg4>3.0.co
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
https://doi.org/10.1002/ajmg.1320460104
Publikováno v:
American journal of medical genetics. Part A. 140(18)
Pallister-Killian syndrome (PKS) is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome 12p. The syndrome presents with a recognizable pattern of findings including: pigmentary skin ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59ea12b2c423c68bcc190bcc22c4a42
https://pubmed.ncbi.nlm.nih.gov/16906561
https://pubmed.ncbi.nlm.nih.gov/16906561
Publikováno v:
Cancer genetics and cytogenetics. 141(2)
Reports of X chromosome translocations, as primary chromosomal changes associated with hematologic disorders, remain relatively uncommon. Herein, we report the detection, by conventional cytogenetic methods, of a cytogenetically identical t(X;20) in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca7f99cd598bbaeeded874558019784e
https://pubmed.ncbi.nlm.nih.gov/12606138
https://pubmed.ncbi.nlm.nih.gov/12606138
Publikováno v:
Clinical genetics. 60(1)
The absence of a sex chromosome in conjunction with the presence of a marker chromosome generally implicates a sex chromosome origin for such marker chromosomes. These types of findings are frequently associated with Ullrich-Turner syndrome. We repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::84429cd581511c6516d03a27ca8703ee
https://pubmed.ncbi.nlm.nih.gov/11531974
https://pubmed.ncbi.nlm.nih.gov/11531974
Autor:
R T, Zori, F Z, Boyar, W N, Williams, B A, Gray, A, Bent-Williams, H J, Stalker, L A, Rimer, J A, Nackashi, D J, Driscoll, S A, Rasmussen, V, Dixon-Wood, C A, Williams
Publikováno v:
American journal of medical genetics. 77(1)
Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::48d52e1f2e7a84ab8a5b9473f8e5476c
https://pubmed.ncbi.nlm.nih.gov/9557885
https://pubmed.ncbi.nlm.nih.gov/9557885