Published in Mol Cell Endocrinol on March 09, 2009
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet (2003) 11.67
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J (2003) 1.96
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MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol Cell Biol (2004) 1.30
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Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
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The UMD-LDLR database: additions to the software and 490 new entries to the database. Hum Mutat (2002) 1.07
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes (2003) 1.06
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ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. J Pediatr Endocrinol Metab (2002) 0.98
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Facial appearance in persistent hyperinsulinemic hypoglycemia. Am J Med Genet (2002) 0.92
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A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. Eur J Hum Genet (2010) 0.91
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Changes in WT1 splicing are associated with a specific gene expression profile in Wilms' tumour. Oncogene (2002) 0.88
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A simple and fast method for cell recovery and DNA content analysis from various mouse tissues by flow cytometry. Cytotechnology (2006) 0.84
Lifelong circadian and epigenetic drifts in metabolic syndrome. Epigenetics (2007) 0.83
Epigenetic control of development and expression of quantitative traits. Reprod Fertil Dev (2011) 0.82
Maternal calorie restriction modulates placental mitochondrial biogenesis and bioenergetic efficiency: putative involvement in fetoplacental growth defects in rats. Am J Physiol Endocrinol Metab (2012) 0.80
Third Santorini conference pharmacogenomics workshop report: "Pharmacogenomics at the crossroads: what else than good science will be needed for the field to become part of Personalized Medicine?". Clin Chem Lab Med (2007) 0.78
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