Now showing items 1-10 of 57
7 th HUPO World Congress of Proteomics: Launching the Second Phase of the HUPO Plasma Proteome Project (PPP-2) 16–20 August 2008, Amsterdam, The Netherlands
(WILEY-VCH Verlag, 2009-01)
The HUPO Plasma Proteome Project new phase, PPP-2, held its initial workshop on 17 August, 2008, at the 7 th World Congress of Proteomics in Amsterdam. Technology platforms, data repositories, informatics, and engagement ...
Tests for gene-environment interaction from case-control data: a novel study of type I error, power and designs This article is a US government work, and, as such, is in the public domain in the United States of America.
(Wiley Subscription Services, Inc., A Wiley Company, 2008-11)
To evaluate the risk of a disease associated with the joint effects of genetic susceptibility and environmental exposures, epidemiologic researchers often test for non-multiplicative gene-environment effects from case-control ...
Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion
(Wiley Subscription Services, Inc., A Wiley Company, 2003-01-30)
Complex congenital heart defects (CHD) are associated with a variety of single gene abnormalities and chromosomal rearrangements. Of the various forms of CHD, aortic arch interruption, a conotruncal heart defect, is ...
STATISTICAL TESTS FOR TAXONOMIC DISTINCTIVENESS FROM OBSERVATIONS OF MONOPHYLY
(Blackwell Publishing Inc, 2007-02)
DNA-Sequence Patenting: National Society of Genetic Counselors (NSGC) Position Paper
(Kluwer Academic Publishers-Plenum Publishers; National Society of Genetic Counselors, Inc. ; Springer Science+Business Media, 2002-08)
In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting of DNA-sequences. The mandate of the group was to produce ...
Understanding the accuracy of statistical haplotype inference with sequence data of known phase
(Wiley Subscription Services, Inc., A Wiley Company, 2007-11)
Statistical methods for haplotype inference from multi-site genotypes of unrelated individuals have important application in association studies and population genetics. Understanding the factors that affect the accuracy ...
Systemic lupus erythematosus in a man with Noonan syndrome
(John Wiley & Sons, Inc., 2001-07-22)
Noonan syndrome is a multiple congenital anomaly condition characterized by craniofacial anomalies, short stature, cardiac malformations, and normal peripheral blood karyotype analysis. Prior reports of individuals with ...
Hair cells in the inner ear of the pirouette and shaker 2 mutant mice
(Kluwer Academic Publishers; Springer Science+Business Media, 2000-04)
The shaker 2 ( sh2 ) and pirouette ( pi ) mouse mutants display severe inner ear dysfunction that involves both auditory and vestibular manifestation. Pathology of the stereocilia of hair cells has been found in both ...
Endonuclease-independent LINE-1 retrotransposition at mammalian telomeres
(Nature Publishing Group, 2007-03-08)
Long interspersed element-1 (LINE-1 or L1) elements are abundant, non-long-terminal-repeat (non-LTR) retrotransposons that comprise 17% of human DNA(1). The average human genome contains similar to 80-100 retrotransposition- ...
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome Communicated by Gregg Semenza Online Citation: Human Mutation , Mutation in Brief #507 (2001) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/507.pdf
(Wiley Subscription Services, Inc., A Wiley Company, 2002-05)
Guttmacher syndrome, a dominantly inherited combination of distal limb and genital tract abnormalities, has several features in common with hand-foot-genital syndrome (HFGS), including hypoplastic first digits and hypospadias. ...