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of 8
pro vyhledávání: '"Mary Sandstrom"'
Autor:
Shea Mosby, Donald Brown, Dale Carver, Bjorn Clausen, Aaron Couture, Gregory Dale, Panagiotis Gastis, Mark Gulley, Takeyasu Ito, Sean Kuvin, Paul Koehler, Hye Lee, Alexander Long, Mark Makela, Levi Neukirch, Ellen O'Brien, Katherine Prestridge, Mary Sandstrom, Frans Trouw, Richard Van De Water, Sven Vogel, Stephen Wender, Christiaan Vermeulen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9df4cd85b36490ab00e30be1303822c3
https://doi.org/10.2172/1960151
https://doi.org/10.2172/1960151
Publikováno v:
American Journal of Medical Genetics Part A. 155:367-371
Low copy repeat (LCR) sequences in 17p11.2 predispose this region to genomic deletions and duplications. Duplication of 17p11.2, also known as Potocki-Lupski syndrome (PTLS), is a well-described microduplication syndrome featuring cognitive and langu
Publikováno v:
American journal of medical genetics. Part A. (3)
A 15q26 terminal chromosomal microdeletion was associated with markedly enlarged 1st trimester nuchal translucency in three of four pregnancies of a couple seen in our prenatal diagnosis unit. Nuchal translucency was normal in the couple's fourth pre
Autor:
Catherine A. Niedzwiecki, Frederick R. Bieber, Mary Sandstrom, Deborah J. Sandstrom, Cynthia C. Morton, Stanislawa Weremowicz
Publikováno v:
Prenatal Diagnosis. 21:262-269
Fluorescence in situ hybridization (FISH) was performed with probes specific for chromosomes 13, 18, 21, X and Y on 911 of 11123 (8.2%) amniotic fluid samples submitted to the present authors' laboratory for cytogenetic analysis over an 8-year period
Autor:
Cynthia C. Morton, Lewis B. Holmes, Mary Sandstrom, Darren J. Fowler, Charles Lee, Emmanuelle Lemyre
Publikováno v:
American Journal of Medical Genetics. 100:246-250
We report an unbalanced translocation involving chromosomes 14 and 21 which presented as fetal ventriculomegaly at 33 weeks gestation. Second trimester ultrasound had indicated normal fetal anatomy, including normal intracranial structures. Parental
Publikováno v:
Obstetrics & Gynecology. 88:684-687
Background In perinatal settings, fluorescence in situ hybridization has the potential to provide specific chromosome evaluation when full karyotype analysis is not possible because there are no dividing cells. Case Based on clinical features, cases
Autor:
Mary Sandstrom, Jonathan A. Fletcher, Azra H. Ligon, Sheng Xiao, Natalia T. Leach, Anne Giersch, Charles Lee, Paola Dal Cin, Sibel Kantarci, Cynthia C. Morton, Frederick R. Bieber, Stanislawa Weremowicz
Publikováno v:
Current Protocols in Human Genetics
This appendix, developed by the staff at the Center for Advanced Molecular Diagnostics in the Department of Pathology at the Brigham and Women's Hospital, includes a comprehensive list of current “macros” or standardized statements used to facili
Publikováno v:
Gynecologic oncology. 14(2)
This paper describes the clinical history and chromosomal analyses of a patient with a 45,X molar pregnancy and reviews the literature regarding cytogenetic studies of complete hydatidiform moles. The reported patient with a 45,X complete mole develo