Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Molecular Genetics and Metabolism|June 18, 2003
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?Christopher N Vlangos, Dwight K C Yim, Sarah H Elsea
American Journal of Medical Genetics. Part A|February 4, 2005
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 geneChristopher N Vlangos, Meredith Wilson, Jan Blancato, et al.
Nature Genetics|March 26, 2003
Mutations in RAI1 associated with Smith-Magenis syndromeRebecca E Slager, Tiffany Lynn Newton, Christopher N Vlangos, et al.
Developmental Biology|August 8, 2009
Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosisChristopher N Vlangos, Bridget C O'Connor, Madeleine J Morley, et al.
Plos Genetics|February 26, 2013
Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expressionChristopher N Vlangos, Amanda N Siuniak, Dan Robinson, et al.
Pediatric Nephrology (Berlin, Germany)|June 11, 2008
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndromeGil Chernin, Saskia F Heeringa, Rasheed Gbadegesin, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N Vlangos, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 27, 2008
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndromeSaskia F Heeringa, Christopher N Vlangos, Gil Chernin, et al.
Pediatrics|March 21, 2007
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)Bernward G Hinkes, Bettina Mucha, Christopher N Vlangos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2006
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumSanthosh Girirajan, Christopher N Vlangos, Barbara B Szomju, et al.
Pageof 2