Now showing items 1-10 of 56
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 ...
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia How to cite this article: Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. 2008. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet Part A.
(Wiley Subscription Services, Inc., A Wiley Company, 2008-11-15)
Expanded newborn screening detects patients with modest elevations in citrulline; however it is currently unclear how to treat these patients and how to counsel their parents. In order to begin to address these issues, we ...
NF1-related locus on chromosome 15
(Elsevier, 1992-08)
A neurofibromatosis type I (NF1)-related locus has been identified on chromosome 15. It contains a partial copy of the NF1 GAP-related domain, which is known to interact with the ras protooncogenes. However, the chromosome ...
Nestin-Cre mediated deletion of Pitx2 in the mouse 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, 2006-07)
Nestin-Cre mice are widely used to generate gene deletions in the developing brain. Surprisingly, few Nestin-Cre lines have been characterized for their temporal and brain region-specific recombination. In addition, some ...
Refined localization of human connexin32 gene locus, GJB1, to Xq13.1
(Elsevier, 1992-06)
Connexins are the peptide subunits of gap junctions that interconnect cells to allow the direct, intercellular transfer of small molecules. Recently, the human connexin32 gene (locus designation GJB1) has been regionally ...
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 ...
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia
(Wiley Subscription Services, Inc., A Wiley Company, 1997-08-22)
Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and ...
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. ...
Juberg–Hayward syndrome: Report of a new patient with severe phenotype and novel clinical features
(Wiley Subscription Services, Inc., A Wiley Company, 2003-10-15)
We report a patient with severe mental retardation (MR), microcephaly, Dandy–Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, ...
Localization of the gene encoding R[kappa]B (NFRKB), a tissue-specific DNA binding protein, to chromosome 11q24-q25
(Elsevier, 1992-10)
Although NF (nuclear factor)-[kappa]B binds in vitro to several of the [kappa]B regulatory elements found in cellular and viral genes, another DNA binding protein, R[kappa]B, also binds to a related variant of the [kappa]B ...