Published in Am J Med Genet A on September 24, 2013
Prenatal genetic counseling in Klinefelter syndrome: comments on the article by Lalatta et al. [2013] and a proposal of a new approach. Am J Med Genet A (2014) 1.07
Response to "Prenatal genetic counseling in Klinefelter syndrome: comments on the article by Lalatta and Tint [2013] and a proposal of a new approach" by Pimpolari et al. Am J Med Genet A (2015) 0.75
The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults. J Genet Couns (2016) 0.75
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci U S A (2004) 2.32
NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols. J Biol Chem (2006) 1.32
Inhibition of ileal bile acid transport lowers plasma cholesterol levels by inactivating hepatic farnesoid X receptor and stimulating cholesterol 7 alpha-hydroxylase. Metabolism (2004) 1.07
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. J Lipid Res (2005) 1.06
FXR-activating ligands inhibit rabbit ASBT expression via FXR-SHP-FTF cascade. Am J Physiol Gastrointest Liver Physiol (2005) 0.99
Cerebrotendinous xanthomatosis: a rare cause of bilateral Achilles tendon swelling and ataxia. A case report. J Bone Joint Surg Am (2006) 0.95
Simultaneous quantitation of fatty acids, sterols and bile acids in human stool by capillary gas-liquid chromatography. J Chromatogr B Analyt Technol Biomed Life Sci (2002) 0.88
Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. Brain Res Dev Brain Res (2005) 0.87
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. BMC Dev Biol (2004) 0.87
Dietary cholesterol stimulates CYP7A1 in rats because farnesoid X receptor is not activated. Am J Physiol Gastrointest Liver Physiol (2003) 0.86
Regulation of the farnesoid X receptor (FXR) by bile acid flux in rabbits. J Biol Chem (2002) 0.86
FXR-mediated down-regulation of CYP7A1 dominates LXRalpha in long-term cholesterol-fed NZW rabbits. J Lipid Res (2003) 0.85
Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis. J Lipid Res (2004) 0.84
Dietary xenosterols lead to infertility and loss of abdominal adipose tissue in sterolin-deficient mice. J Lipid Res (2012) 0.84
Hydrophilic 7 beta-hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosis. Metabolism (2004) 0.82
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. Eur J Hum Genet (2015) 0.81
Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. BMC Dev Biol (2007) 0.81
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. Mol Genet Metab (2011) 0.80
An overlapping binding site in the CYP7A1 promoter allows activation of FXR to override the stimulation by LXRalpha. Am J Physiol Gastrointest Liver Physiol (2007) 0.77
Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. Mol Genet Metab (2007) 0.77
The stimulatory effect of LXRalpha is blocked by SHP despite the presence of a LXRalpha binding site in the rabbit CYP7A1 promoter. J Lipid Res (2006) 0.76
Removal of the bile acid pool upregulates cholesterol 7alpha-hydroxylase by deactivating FXR in rabbits. J Lipid Res (2002) 0.76
Response to "Prenatal genetic counseling in Klinefelter syndrome: comments on the article by Lalatta and Tint [2013] and a proposal of a new approach" by Pimpolari et al. Am J Med Genet A (2015) 0.75