Publications by authors named "Frederick V Schaefer"

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Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.
Anne L Schafer, Steven Mumm, Ivan El-Sayed, William H McAlister, Andrew E Horvai, Frederick V Schaefer

J Bone Miner Res· April 2014

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An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.
Dong-Chuan Guo, Prateek Gupta, Van Tran-Fadulu, Tera V Guidry, Magalie S Leduc, Frederick V Schaefer

J Hum Genet· February 2009

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Pseudohypoparathyroidism type 1a with congenital hypothyroidism.
Jordan E Pinsker, William Rogers, Scott McLean, Frederick V Schaefer, Cydney Fenton

J Pediatr Endocrinol Metab· August 2006

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Genetically characterized positive control cell lines derived from residual clinical blood samples.
Susan H Bernacki, Jeanne C Beck, Ana K Stankovic, Laurina O Williams, Jean Amos, Frederick V Schaefer

Clin Chem· November 2005

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Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
Susan H Bernacki, Jeanne C Beck, Kasinathan Muralidharan, Frederick V Schaefer, Antony E Shrimpton

Clin Chem· November 2005

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Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.
Siby Sebastian, Silvia G Spitzer, Leonard E Grosso, Jean Amos, Frederick V Schaefer

Clin Chem· January 2004

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Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations.
Susan H Bernacki, Daniel H Farkas, Wenmei Shi, Vivian Chan, Yenbou Liu, Frederick V Schaefer

Arch Pathol Lab Med· December 2003

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