Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Philip Mowrey"'
Autor:
David Ng, Edward Coll, Jiannis Ragoussis, Marc P. Di Fazio, Ghazala Mirza, Philip Mowrey, Sondra W. Levin, Clesson Turner
Publikováno v:
American Journal of Medical Genetics. 103:320-325
An interstitial tandem duplication of 6p21.1-p22.2 was found in a girl at 11 months of age when she was evaluated for developmental delay. Previous cases reported with partial 6p duplication usually have involved terminal duplications, with breakpoin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c997f759c68deccc49130ba15174f146
https://doi.org/10.1002/1096-8628(20011101)103:4<320::aid-ajmg1577>3.0.co
https://doi.org/10.1002/1096-8628(20011101)103:4<320::aid-ajmg1577>3.0.co
Autor:
Gail Stetten, Gail H. Vance, Laurie A. Christ, D. L. Van Dyke, Philip Mowrey, James T. Mascarello, Michael D. Graf, Urvashi Surti, Patrick D. Storto, Mark J. Pettenati, Stuart Schwartz, Daynna J. Wolff
Publikováno v:
Journal of medical genetics. 43(8)
Background: A marker chromosome is defined as a structurally abnormal chromosome that cannot be identified by routine cytogenetics. The risk for phenotypic abnormalities associated with a marker chromosome depends on several factors, including inheri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::847628d9639ee6443a688edcff206b41
https://pubmed.ncbi.nlm.nih.gov/16882740
https://pubmed.ncbi.nlm.nih.gov/16882740
Autor:
Carlos A. Tirado, Aurelia M. Meloni-Ehrig, Eian Wallenhorst, Kristine Burks, Jay Scheerle, Maurice Morillon, JoAnn C. Kelly, Deborah Heritage, Alexander Spira, Calvin D. Croft, Lewis Glasser, James N. Butera, Philip Mowrey
Publikováno v:
Cancer genetics and cytogenetics. 170(1)
We report on two patients with myeloid disorders and complex karyotypes including a dicentric chromosome, dic(17;20)(p11.2;q11.2), resulting in the loss of most of 17p and 20q. The presence of the centromeres of chromosomes 17 and 20 in the dic(17;20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca2841e548ab64747aaec1d90e176bf6
https://pubmed.ncbi.nlm.nih.gov/16965957
https://pubmed.ncbi.nlm.nih.gov/16965957
Autor:
Bethy Jackle, Kristin M. May, Peggy Bobby, P. Nagesh Rao, William Stewart, Chris Von Kap-Herr, Philip Mowrey, Mark J. Pettenati
Publikováno v:
American journal of medical genetics. 111(1)
Florescence in situ hybridization (FISH) using subtelomeric probes has been useful in detecting cryptic telomeric chromosomal rearrangements. We report, for the first time, that cytogenetically visible chromosome rearrangements can occur between the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9d2fe3c1d767f8230d3421d9684a7d2
https://pubmed.ncbi.nlm.nih.gov/12124733
https://pubmed.ncbi.nlm.nih.gov/12124733
Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes
Autor:
Peggy Bobby, Philip Mowrey, Mark J. Pettenati, Jon S. Rosnes, Bethy Jackle, Chris Von Kap-Herr, Stuart Schwartz, P. Nagesh Rao
Publikováno v:
Prenatal diagnosis. 22(3)
Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a15ff16c4699a3bd4f696e503e59ace
https://pubmed.ncbi.nlm.nih.gov/11920892
https://pubmed.ncbi.nlm.nih.gov/11920892