Now showing items 31-40 of 57
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis Communicated by JÜrgen Horst Online Citation: Human Mutation , Mutation in Brief #797 (2005) Online http://www3.interscience.wiley.com/homepages/38515/pdf/797.pdf
(Wiley Subscription Services, Inc., A Wiley Company, 2005-04)
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3) were identified as ...
Contrasting multi-site genotypic distributions among discordant quantitative phenotypes: the APOA1/C3/A4/A5 gene cluster and cardiovascular disease risk factors
(Wiley Subscription Services, Inc., A Wiley Company, 2006-09)
Most tests of association between DNA sequence variation and quantitative phenotypes in samples of randomly chosen individuals rely on specification of genotypic strata followed by comparison of phenotypes across these ...
Integrative biology and the developing limb bud 1
(Blackwell Science Inc, 2002-09)
The identification or selective construction of mutations within genes has allowed researchers to explore the downstream effects of gene disruption. Although these approaches have been successful, a limitation in our ...
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms–mismatch repair (MAPP-MMR) Communicated by Marc Greenblatt
(Wiley Subscription Services, Inc., A Wiley Company, 2008-06)
Lynch syndrome, also known as hereditary nonpolyposis colon cancer (HNPCC), is the most common known genetic syndrome for colorectal cancer (CRC). MLH1/MSH2 mutations underlie approximately 90% of Lynch syndrome families. ...
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal
(Wiley Subscription Services, Inc., A Wiley Company, 2004-03-15)
We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior ...
A Form of Inherited Cerebellar Ataxia with Saccadic Intrusions, Increased Saccadic Speed, Sensory Neuropathy, and Myoclonus
(Blackwell Publishing Ltd, 2002-04)
Bayesian EM algorithm for scoring polymorphic deletions from SNP data and application to a common CNV on 8q24
(Wiley Subscription Services, Inc., A Wiley Company, 2009-05)
Copy number variations (CNVs) in the human genome provide exciting candidates for functional polymorphisms. Hence, we now assess association between CNV carrier status and diseases status by evaluating the signal intensity ...
Exclusion of PITX2 mutations as a major cause of CHARGE association
(Wiley Subscription Services, Inc., A Wiley Company, 2002-07-22)
CHARGE is a nonrandom association of ocular coloboma, congenital heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, and ear anomalies including deafness. The cause of CHARGE remains ...
Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression
(Nature Publishing Group, 2008-02-11)
Multiple, complex molecular events characterize cancer development and progression(1,2). Deciphering the molecular networks that distinguish organ- confined disease from metastatic disease may lead to the identification ...