10 LIVRES EN ANGLAIS EN RAPPORT AVEC «AUTOSOME»
Découvrez l'usage de
autosome dans la sélection bibliographique suivante. Des livres en rapport avec
autosome et de courts extraits de ceux-ci pour replacer dans son contexte son utilisation littéraire.
1
The Principles of Clinical Cytogenetics
The risk for a female with a balanced X;autosome translocation to have a live-
born child with a structural and/or functional aneuploidy has been estimated at 20
—40% [192]. Phenotypic abnormalities can range from mild effects to severe ...
Steven Gersen, Martha B. Keagle, 2013
2
Chromosome Abnormalities and Genetic Counseling
These are seen in females with de novo X-autosome translocations in which the
actual locus has been disrupted. With preferential inactivation of the normal X,
there remains no functional copy of the normal allele—an effectively “nulliallelic”
...
Genetic Health Services Victoria Royal Children's Hospital R. J. McKinlay Gardner Consultant Geneticist, Melbourne, Department of Cytogenetics and Molecular Genetics Women's and Children's Hospital Adelaide (Retired) Grant R. Sutherland Director, 2003
3
Genetic Disorders and the Fetus: Diagnosis, Prevention and ...
X;autosome translocations are rare, probably because of the lethality of disrupted
genes and loss of dosage compensation.227 They can exist in two forms,
balanced and unbalanced, and are associated with a variety of clinical findings ...
Aubrey Milunsky, Jeff Milunsky, 2011
4
Manual of Cytogenetics in Reproductive Biology
Autosome. Translocations. Balanced. Translocations. If the inactive X
chromosome is translocated, inactivation spreads from the translocated X
segment to the attached autosomal material and inactivates genes. There occurs
functional ...
5
Introduction to Risk Calculation in Genetic Counseling
If X-chromosome inactivation occurs randomly in these women, then in
approximately half of their cells the derivative X-autosome with an inactivation
center is inactivated, resulting in a variable degree of functional autosomal
monosomy with ...
Centre for Medical Genetics City Hospital Ian D. Young Professor of Pediatric Genetics, Nottingham, 2006
6
Fertility and Chromosome Pairing
4 aneuploid. 144 pachytene, 57 between pachytene substages, 9 SC length in,
14 Spermatogenesis effect of X-autosome translocations on, 7 1 impairment of,
70 inactivation of X chromosome and, 15 process of. 5 sex chromosome-
autosome ...
Christopher Bob Gillies, 1989
7
Chromosome Abnormalities and Genetic Counseling
autosomal segment: 46,der(autosome) and 46,der(X), respectively (segregations
d and e in Fig. 6–7). The partial autosomaltrisomicstatemay,inthe46,X,der(X)
female, have an attenuated phenotype due to spreading of inactivation from the
XIC ...
R.J. MKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer, 2011
8
Pathophysiology: concise lecturec, tests, ...
0 Dominant diseases are manifested in the heterozygous state; by defini— tion,
the gene responsible for an autosome—dominant disorder must be located on
one of the 22 autosomes. - Each affected individual has an affected parent [
unless ...
Litvitsky P.F., Pirozhkov S.V., Tezikov E.V., Петр Францевич Литвицкий, 2012
9
Catalogue of Unbalanced Chromosome Aberrations in Man
tion through spreading over of an autosomal segment and non-inactivation of a
segment of the X attached to an autosome. Gonadal dysfunction is believed to
occur if the breakpoint in the X chromosome is situated within the segment (X) ...
10
Genomics and Clinical Medicine
Six NS-XLMR genes (TM4SF2, ZNF41, ZNF81, OPHN1, AGTR2, and ARHGEF6)
were identified after being mapped to an X chromosome breakpoint in an
individual with an X;autosome translocation and nonsyndromic MS (Billuart et al.,
1998 ...
University Hospital of Wales Dhavendra Kumar Consultant in Clinical Genetics Institute of Clinical Genetics, Cardiff Wales, Weatherall Institute of Molecular Medicine University of Oxford (Emeritus) David Weatherall Professor and Honorary Director, 2008
10 ACTUALITÉS CONTENANT LE TERME «AUTOSOME»
Découvrez de quoi on parle dans les médias nationaux et internationaux et comment le terme
autosome est employé dans le contexte des actualités suivantes.
Aicardi Syndrome: Genome Sequencing Illuminates Another Rare …
Perhaps a gene on an autosome affects expression of genes on the X. Hippopotamus_amphibius_-_Homosassa_Springs_Wildlife_State_Park ... «PLoS Blogs, juil 15»
TGen study identifies first genetic mutation associated with Aicardi …
"Our study strongly challenges this notion by demonstrating a deleterious mutation of TEAD1 on an autosome," said Dr. Isabelle Schrauwen, ... «HealthCanal.com, juin 15»
Study identifies first genetic mutation associated with Aicardi syndrome
"Our study strongly challenges this notion by demonstrating a deleterious mutation of TEAD1 on an autosome," said Dr. Isabelle Schrauwen, ... «Medical Xpress, juin 15»
Identification of genomic regions associated with female fertility in …
The genome-wide significant SNP were located on Bos taurus autosome (BTA) 7 (2 SNP), BTA9 (4 SNP for QTL peak1 (QTL9–1) and 5 SNP ... «BMC Blogs Network, juin 15»
Public Release: 2-Jun-2015 Researcher will examine puzzle of sex …
He said if this disparity in gene dosage occurred in any "normal" chromosome (autosome), that individual would be very sick, if it could live at all ... «EurekAlert, juin 15»
Lost Y Chromosome Genes Found on Autosomes
Autosome transposition events from Y chromosome among mammalsWHITEHEAD INSTITUTE, JENNIFER HUGHESThe mammalian Y ... «The Scientist, mai 15»
Chromosome biology Diverse evolution of sex chromosomes in flies
Previous work by the group reported that a former sex chromosome had reverted to an autosome in Drosophila melanogaster. To further ... «Nature.com, mai 15»
Updated Platypus Genome Provides Insight into Recombination …
... portion of scaffolds were able to be assigned to the platypus' 21 autosome pairs, as much of the genome is marked by repetitive sequences. «GenomeWeb, mai 15»
Kennedy Crossan provides solid education for students
They learned the basic vocabulary for a spreadsheet, how to enter data, and how to use the basic autosome tool. The students are currently ... «The Philadelphia Tribune, mai 15»
Common polygenic variation in coeliac disease and confirmation of …
Genotypes were called using the Illumina GenomeStudio software using the cluster set of 172 242 autosome/x-chromosome variants from the ... «Nature.com, avril 15»
