Now showing items 21-30 of 57
Complex adaptive systems and human health: the influence of common genotypes of the apolipoprotein E ( ApoE ) gene polymorphism and age on the relational order within a field of lipid metabolism traits
(Springer-Verlag, 2000-11)
We analyzed the influence of age, apolipoprotein E ( ApoE ) genotype, and their interaction on the variation of each of all possible pairwise correlations among plasma levels of ApoE, ApoB, total cholesterol, triglyceride, ...
Three ENU-induced neurological mutations in the pore loopof sodium channel Scn8a (Na v 1.6) and a genetically linkedretinal mutation, rd13
(Springer-Verlag, 2004-05)
The goal of The Jackson Laboratory Neuroscience Mutagenesis Facility is to generate mouse models of human neurological disease. We describe three new models obtained from a three-generation screen for recessive mutations. ...
BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud
(Blackwell Publishing Inc, 2008-07)
We previously demonstrated that a ∼1 Mb domain of genes upstream of and including Hoxa13 is co-expressed in the developing mouse limbs and genitalia. A highly conserved non-coding sequence, mmA13CNS, was shown to be ...
Identification of members of the Wnt signaling pathway in the embryonic pituitary gland
(Springer-Verlag; Springer-Verlag New York Inc., 2001-11)
Prop1 is one of several transcription factors important for the development of the pituitary gland. Downstream targets of PROP1 and other critical pituitary transcription factors remain largely unknown. We have generated ...
Guidelines for Writing Letters to Patients
(Kluwer Academic Publishers-Plenum Publishers; National Society of Genetic Counselors, Inc. ; Springer Science+Business Media, 2002-10)
Patient letters provide a permanent record of the genetic counseling that was provided and are unique in medical care; rarely do other health care providers send summaries written specifically to their patients and families. ...
Two patients with monomelic ulnar duplication with mirror hand polydactyly: Segmental Laurin–Sandrow syndrome
(Wiley Subscription Services, Inc., A Wiley Company, 2004-11-15)
We have studied two unrelated boys with isolated left mirror hand and ulnar duplication. Neither had facial anomalies and family histories were unremarkable. We suggest that these boys have segmental Laurin–Sandrow syndrome, ...
Strain-specific modification of lethality in fucose-deficient mice
(Springer-Verlag; Springer-Verlag New York Inc., 2003-02)
Abstract
1999 Presidential Address to the National Society of Genetic Counselors
(Kluwer Academic Publishers-Plenum Publishers; National Society of Genetic Counselors, Inc. ; Springer Science+Business Media, 2000-02)
Possible third case of Lin-Gettig syndrome
(Wiley Subscription Services, Inc., A Wiley Company, 2002-07-15)
We report a patient with craniosynostosis, severe mental retardation, absence of the corpus callosum, camptodactyly, hypogonadism, and ventricular septal defect. We propose that he has Lin-Gettig syndrome and that he is ...
Replication of genetic associations as pseudoreplication due to shared genealogy
(Wiley Subscription Services, Inc., A Wiley Company, 2009-09)
The genotypes of individuals in replicate genetic association studies have some level of correlation due to shared descent in the complete pedigree of all living humans. As a result of this genealogical sharing, replicate ...