与 «MOSAICISM»相关的英语书籍
在以下的参考文献中发现
mosaicism的用法。与
mosaicism相关的书籍以及同一来源的简短摘要提供其在 英语文献中的使用情境。
1
Clinical Laboratory Medicine
45,X/46,XY Mosaicism Determine whether the 45,X cell population is secondary
to the presence of a cell population with an unstable Y-chromosome
rearrangement such as a ring or dicentric. Such karyotypes represent a distinct
and clinically ...
Kenneth D. McClatchey, 2002
2
The Principles of Clinical Cytogenetics
Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and
normal intellectual development. Am J Med Genet. 2001;99:210—6. Powis Z,
Erickson RP. Uniparental disomy and the phenotype of mosaic trisomy 20: a new
case ...
Steven Gersen, Martha B. Keagle, 2013
3
Diagnostic Imaging of Fetal Anomalies
David A. Nyberg. Confined Placental Mosaicism Confined placental mosaicism is
mosaic aneuploidy confined to placental tissues. Incidence The incidence of
confined placental mosaicism is uncertain and undoubtedly underdiagnosed.
4
Molecular Medicine: An Introductory Text
(3) confined placental mosaicism and (4) true fetal mosaicism. Chromosomal
mosaicism usually results from non-disjunction occurring in an early embryonic
mitotic division, leading to the persistence of more than one cell line. With early
fetal ...
5
Miscarriage and the Successful Pregnancy: A Woman's Guide to ...
Translocations represent structural rearrangements; mosaicism is an example of
a numerical chromosomal abnormality. Mosaicism is the presence of two or more
cell lines in the same individual with these cell lines arising from a single ...
William Hummel FACOF, 2005
6
Preventive Health Care for Children with Genetic Conditions: ...
Complications of trisomies (mostly mosaic) Disorder Complications Trisomy 1
mosaicism Trisomy 2 mosaicism Trisomy 3 mosaicism Trisomy 4 mosaicism
Trisomy 5 mosaicism Trisomy 7 mosaicism Trisomy 8 mosaicism Trisomy 9
mosaicism ...
Golder N. Wilson, W. Carl Cooley, 2006
7
Introduction to Risk Calculation in Genetic Counseling
The issue of germline mosaicism has generated a great deal of uncertainty in the
provision of genetic risks over the past 10–15 years. Previously, this was not
perceived to be a major concern. Rare reports of siblings with conditions such as
...
Centre for Medical Genetics City Hospital Ian D. Young Professor of Pediatric Genetics, Nottingham, 2006
Genetic mosaicism is defined as the coexistence of two or more cell lines
originating from a single zygote, within an individual. Genetic mosaicism often
arises spontaneously and has been widely documented and reviewed (Stern,
1968; and ...
Louis-Marie Houdebine, 1997
9
Genetic Disorders and the Fetus: Diagnosis, Prevention and ...
340. Puechberty J, Chaze AM, Cacheux V, et al. Maternal uniparental disomy 16
in a fetus with trisomy 16 mosaicism. Annual Meeting of the American Society for
Human Genetics, 2005;Abstract 879. 341. Hidaka N, Yamamoto N, Tsukimori K, ...
Aubrey Milunsky, Jeff Milunsky, 2011
10
Prenatal Diagnosis: Cases and Clinical Challenges
There are a few case reports of babies diagnosed with trisomy 8 mosaicism
syndrome for whom there was only a single cell or even no abnormal cell in
amniocyte culture. These reports indicate that trisomy 8 cells may not enter or
survive in ...
Miriam S. DiMaio, Joyce E. Fox, Maurice J. Mahoney, 2011
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找出国内和国际出版社所讨论的内容，以及词语
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Donor-derived constitutional chromosomal abnormalities after …
Constitutional trisomy 8 mosaicism in a healthy bone marrow donor: confirmation of first reported donor origin trisomy 8. Am J Hematol 2010; ... «Nature.com, 七月 15»
Carl Zimmer Inks Deal With Dutton
... historical research with original reporting on the emerging role of the genetic technology CRISPR, so-called selfish genes, neural mosaicism, ... «GalleyCat, 七月 15»
Early-onset epileptic encephalopathy as the initial clinical …
This low incidence of male cases has been attributed to male lethality and the existence of a few male carriers to somatic mosaicism. Among ... «Nature.com, 七月 15»
Prenatal Testing Identifies Occult Maternal Tumors
... between NIPT results and the actual fetal karyotype for reasons including maternal chromosome mosaicism or placental mosaicism. Cell-free ... «Cancer Network, 七月 15»
Fragile X syndrome screening in Chinese children with unknown …
Five full mutations were identified (1 familial and 4 sporadic IDD patients), and size mosaicism was apparent in 4 of these FXS patients ... «7thSpace Interactive, 七月 15»
Cell-Free Fetal DNA Testing Warrants Caution, Committee Says
False-positives can arise from placental mosaicism; maternal malignancy; maternal chromosomal duplication; multiple gestation, including a ... «Medscape, 七月 15»
Novel mutations in PAX6, OTX2 and NDP in anophthalmia …
In one case, the PAX6 variant, parental mosaicism for the variant appears to be responsible for its occurrence in two affected siblings. In the ... «Nature.com, 七月 15»
Mosaic Mutations May Not Be Rare
Somatic mosaicism may be responsible for a larger proportion of genomic variability within humans than previously thought. By Anna ... «The Scientist, 六月 15»
Molecular Barcoding and NGS to Detect Somatic Mosaicism in …
Using this approach, the team confirmed its hypothesis that DICER1 RNase IIIb mosaicism was the cause of the rare DICER1-associated ... «GenomeWeb, 六月 15»
Pregnancy: Prepare for unexpected prenatal test results
Most often this is because of confined placental mosaicism, but women are increasingly discovering abnormalities that may have implications ... «Nature.com, 六月 15»
