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Complete trisomy 13 syndrome白血病粒细胞急性Patients with acute myeloid leukemia (AML) frequently fail chemotherapy due to refractory disease, relapse, or toxicity. Among older AML patients (age > 60 years), there are few long-term survivors. Lenalidomide is a candidate for study in AML based on...
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The main clinical findings in this syndrome are: intrauterine retardation, characteristic facial dysmorphism, hypoplastic external genitalia and malformations of heart, brain and skeleton.关键词: Face Genitalia Chromosomes, Human, 6-12 and X Humans Fetal Growth Retardation Abnormalities, Multiple Trisomy ...
Complete trisomy 17p a relatively new syndrome. A patient with a de novo duplication of 17p is described. A comparison with five other published cases indicates several features in common that seem characteristic of the syndrome. Primary features include, low birth weight, small size,......
In the normal villi sample, the usual disomic complement of chromosomes 13, 18, 21, and X and Y for a female fetus was observed. There was no evidence of trisomy detected in these samples. Maternal cell contamination was not detected. In the molar villi sample, amplification of a single ...
Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex ch... Korkmaz,Hüseyin,Anıl - 《Journal of Clinical Research in Pediatric Endocrinology》 被引量: 1发表: 2013年 Trisomy 8 is Associated ...
Roubertoux, P. L.et al. Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice.Behav. Genet.47, 305–322 (2017). ArticlePubMedGoogle Scholar Fotaki, V.et al. Dyrk1A haploinsufficiency affects viability and causes developmental delay and ...
L. et al. Pre-weaning sensorial and motor development in mice transpolygenic for the critical region of trisomy 21. Behav. Genet. 36, 377–386 (2006). 66. Rodriguiz, R. M., Chu, R., Caron, M. G. & Wetsel, W. C. Aberrant responses in social interaction of dopamine transporter ...
A case of trisomy 18 presenting with severe facial abnormality and phocomelia. Int J Hum Genet. 2012;12(4):325–327. doi:10.1080/09723757.2012.11886187 16. Subhani M, Akangire G, Kulkarni A, et al. Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and ...