Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Livija Celle"'
Autor:
Julie R. Korenberg, Zheng Y. Shi, Livija Celle, Alexander J. Van Riper, Elaine H. Zackai, Nancy B. Spinner, Michael J. Vekemans, David M. Kurnit, Gillian M. Barlow, Xiao Ning Chen, Mark J. Pettenati, Gary E. Lyons, Corey H. Mjaatvedt
Publikováno v:
Genetics in Medicine. 3:91-101
Purpose: Down syndrome (DS) is a major cause of congenital heart disease (CHD) and the most frequent known cause of atrioventricular septal defects (AVSDs). Molecular studies of rare individuals with CHD and partial duplications of chromosome 21 esta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::416d65a380ac62efd949f9390a6fb934
https://doi.org/10.1097/00125817-200103000-00002
https://doi.org/10.1097/00125817-200103000-00002
Autor:
Nancy L. Owens, Elaine H. Zackai, Nancy B. Spinner, Jennifer J.D. Morrissette, Livija Celle, Carol L. Shields
Publikováno v:
American Journal of Medical Genetics. 99:21-28
We present a patient with bilateral retinoblastoma and developmental delay who has an abnormal male karyotype containing 47 chromosomes, including an acentric derivative chromosome 13. We postulate that the derivative 13 occurred after a break at 13q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::775f28ec1d291beebc3c212a0b9aa246
https://doi.org/10.1002/1096-8628(20010215)99:1<21::aid-ajmg1122>3.0.co
https://doi.org/10.1002/1096-8628(20010215)99:1<21::aid-ajmg1122>3.0.co
Autor:
Ian D. Krantz, Natalie E. Rintoul, Wendy Long, Rashmin C. Savani, Michael T. Mennuti, Livija Celle, Laura Lee
Publikováno v:
American Journal of Medical Genetics. 94:125-140
We describe monozygotic twins with partially discordant phenotypes who were found to have a duplication of chromosome region 4q28.3-qter. The duplicated region of chromosome 4 resulted from an unbalanced segregation of a balanced maternal (4;22)(q28.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11e6055573ffb8ab734760c7d7ac2df2
https://doi.org/10.1002/1096-8628(20000911)94:2<125::aid-ajmg5>3.0.co
https://doi.org/10.1002/1096-8628(20000911)94:2<125::aid-ajmg5>3.0.co
Autor:
Linton A. Whitaker, Catherine A. Stolle, Livija Celle, Donna M. McDonald-McGinn, Elaine H. Zackai, Karen W. Gripp
Publikováno v:
American Journal of Medical Genetics. 82:170-176
The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a2209431c481efebdb2c17079f29373
https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co
Publikováno v:
American journal of human genetics. 65(6)
The t(11;22) is the only known recurrent, non-Robertsonian constitutional translocation. We have analyzed t(11;22) balanced-translocation carriers from multiple unrelated families by FISH, to localize the t(11;22) breakpoints on both chromosome 11 an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42f14dcadd97d08b659605a9f1ec981
https://pubmed.ncbi.nlm.nih.gov/10577913
https://pubmed.ncbi.nlm.nih.gov/10577913