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Leukemia Research, ISSN 0145-2126, 2017, Volume 59, pp. 55 - 64
Journal Article
by Robertson, A. Gordon and Shih, Juliann and Yau, Christina and Gibb, Ewan A and Oba, Junna and Mungall, Andrew J and Mungall, Karen L and Hess, Julian M and Uzunangelov, Vladislav and Walter, Vonn and Danilova, Ludmila and Lichtenberg, Tara M and Kucherlapati, Melanie and Kucherlapati, Raju and Kimes, Patrick K and Tang, Ming and Tang, Jiabin and Penson, Alexander and Babur, Ozgun and Akbani, Rehan and Bristow, Christopher A and Hoadley, Katherine A and Iype, Lisa and Chang, Matthew T and Abdel-Rahman, Mohamed H and Ally, Adrian and Auman, J. Todd and Balasundaram, Miruna and Balu, Saianand and Benz, Christopher and Beroukhim, Rameen and Birol, Inanc and Bodenheimer, Tom and Bowen, Jay and Bowlby, Reanne and Brooks, Denise and Carlsen, Rebecca and Cebulla, Colleen M and Cherniack, Andrew D and Chin, Lynda and Cho, Juok and Chuah, Eric and Chudamani, Sudha and Cibulskis, Carrie and Cibulskis, Kristian and Cope, Leslie and Coupland, Sarah E and Defreitas, Timothy and Demchok, John A and Desjardins, Laurence and Dhalla, Noreen and Esmaeli, Bita and Felau, Ina and Ferguson, Martin L and Frazer, Scott and Gabriel, Stacey B and Gastier-Foster, Julie M and Gehlenborg, Nils and Gerken, Mark and Gershenwald, Jeffrey E and Getz, Gad and Griewank, Klaus G and Grimm, Elizabeth A and Hayes, D. Neil and Hegde, Apurva M and Heiman, David I and Helsel, Carmen and Hobensack, Shital and Holt, Robert A and Hoyle, Alan P and Hu, Xin and Hutter, Carolyn M and Jager, Martine J and Jefferys, Stuart R and Jones, Corbin D and Jones, Steven J.M and Kandoth, Cyriac and Kasaian, Katayoon and Kim, Jaegil and Lander, Eric and Lawrence, Michael S and Lazar, Alexander J and Lee, Semin and Leraas, Kristen M and Lin, Pei and Liu, Jia and Liu, Wenbin and Lolla, Laxmi and Lu, Yiling and Ma, Yussanne and Mahadeshwar, Harshad S and Mariani, Odette and Marra, Marco A and Mayo, Michael and Meier, Sam and Meng, Shaowu and Meyerson, Matthew and Mieczkowski, Piotr A and Mills, Gordon B and Moore, Richard A and ... and TCGA Res Network and TCGA Research Network
Cancer Cell, ISSN 1535-6108, 08/2017, Volume 32, Issue 2, pp. 204 - 220.e15
Journal Article
Journal of Gastroenterology and Hepatology, ISSN 0815-9319, 02/2019, Volume 34, Issue 2, pp. 310 - 310
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2014, Volume 111, Issue 23, pp. 8583 - 8588
Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched area. The current generation of tests using massively parallel... 
Size distribution | Proportions | DNA | Fetus | Aneuploidy | Libraries | Sequencing | Chromosomes | Fractions | Blood plasma | Fetal aneuploidy | Next-generation sequencing | Down syndrome | Turner syndrome | Size profiling | DIGITAL PCR | CIRCULATING DNA | size profiling | fetal aneuploidy | next-generation sequencing | QUANTIFICATION | MULTIDISCIPLINARY SCIENCES | COPY NUMBER ABERRATIONS | DISTRIBUTIONS | FRACTION | FETAL CHROMOSOMAL ANEUPLOIDY | MATERNAL PLASMA | MUTATIONS | CELL-FREE DNA | Chromosomes, Human, Pair 13 - genetics | Fetal Diseases - blood | Humans | DNA - blood | Fetal Diseases - genetics | Sensitivity and Specificity | Chromosome Disorders - diagnosis | Pathology, Molecular - methods | Female | Down Syndrome - diagnosis | Electrophoresis, Capillary - methods | High-Throughput Nucleotide Sequencing - methods | Reproducibility of Results | Chromosomes, Human, X - genetics | Fetal Diseases - diagnosis | Monosomy - genetics | DNA - genetics | Monosomy - diagnosis | Pregnancy | Trisomy - diagnosis | DNA - chemistry | Trisomy - genetics | Down Syndrome - genetics | Trisomy 18 Syndrome | Trisomy 13 Syndrome | Chromosomes, Human, Pair 18 - genetics | Prenatal Diagnosis - methods | Chromosome Disorders - genetics | Genetic research | Prenatal diagnosis | Research | Nucleotide sequencing | Methods | DNA sequencing | Molecules | Plasma | Oncology | Cellular biology | Medical screening | Deoxyribonucleic acid--DNA | Index Medicus | Biological Sciences
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 04/2019, Volume 66, Issue 4, pp. e27589 - n/a
MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (‐7/7q‐) and an increased risk to develop myelodysplastic... 
UPD7q | monosomy 7 | MIRAGE syndrome | myelodysplastic syndrome | SAMD9 mutation in mosaic form | ONCOLOGY | PEDIATRICS | HEMATOLOGY | Uniparental disomy | Chromosome 7 | Case reports | Remission | Mutation | Coexistence | Myelodysplastic syndrome | Monosomy
Journal Article
Reproductive BioMedicine Online, ISSN 1472-6483, 08/2019, Volume 39, pp. e34 - e35
Journal Article
04/2007
Background: Recurrent abortion is a difficult medical problem happening in about 1-2% of fertile women. Most spontaneous miscarriages which happen in the first... 
Recurrent abortion | Monosomy X | Chromosomal abnormality
Web Resource
Epilepsia, ISSN 0013-9580, 03/2008, Volume 49, Issue 3, pp. 509 - 515
Journal Article
Journal of Veterinary Medical Science, ISSN 0916-7250, 2018
A routine parentage test as part of a conservation program for Kiso horses identified a possible sex chromosome anomaly in a 7 months-old filly because of an... 
XO monosomy | parentage test | Kiso horse
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2016, Volume 11, Issue 7, pp. e0159507 - e0159507
Journal Article