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47
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for author:"Pennacchio L.A."
in Literature Citations
| Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Cordeddu V., Di Schiavi E., Pennacchio L.A., Ma'ayan A., Sarkozy A., Fodale V., Cecchetti S., Cardinale A., Martin J., Schackwitz W. et al. |
| The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts. Bressler J., Fornage M., Hanis C.L., Kao W.H., Lewis C.E., McPherson R., Dent R., Mosley T.H., Pennacchio L.A., Boerwinkle E. BMC Med. Genet. 10:56-56(2009) · Mapped (2) |
| Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia. Slavotinek A.M., Moshrefi A., Lopez Jiminez N., Chao R., Mendell A., Shaw G.M., Pennacchio L.A., Bates M.D. Clin. Genet. 75:429-439(2009) · Mapped (4) |
| Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. Zhang Z., Alpert D., Francis R., Chatterjee B., Yu Q., Tansey T., Sabol S.L., Cui C., Bai Y., Koriabine M. et al. Proc. Natl. Acad. Sci. U.S.A. 106:3219-3224(2009) · Mapped (1) |
| Dicer, Drosha, and outcomes in patients with ovarian cancer. Merritt W.M., Lin Y.G., Han L.Y., Kamat A.A., Spannuth W.A., Schmandt R., Urbauer D., Pennacchio L.A., Cheng J.F., Nick A.M. et al. N. Engl. J. Med. 359:2641-2650(2008) · Mapped (8) |
| Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. Calton M.A., Ersoy B.A., Zhang S., Kane J.P., Malloy M.J., Pullinger C.R., Bromberg Y., Pennacchio L.A., Dent R., McPherson R. et al. Hum. Mol. Genet. 18:1140-1147(2009) · Mapped (2) |
| Combinatorial regulation of endothelial gene expression by ets and forkhead transcription factors. De Val S., Chi N.C., Meadows S.M., Minovitsky S., Anderson J.P., Harris I.S., Ehlers M.L., Agarwal P., Visel A., Xu S.M. et al. Cell 135:1053-1064(2008) · Mapped (2) |
| Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Rahimov F., Marazita M.L., Visel A., Cooper M.E., Hitchler M.J., Rubini M., Domann F.E., Govil M., Christensen K., Bille C. et al. Nat. Genet. 40:1341-1347(2008) · Mapped (21) |
| Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Romeo S., Kozlitina J., Xing C., Pertsemlidis A., Cox D., Pennacchio L.A., Boerwinkle E., Cohen J.C., Hobbs H.H. Nat. Genet. 40:1461-1465(2008) · UniProtKB (1) |
| Association of common variants in the Joubert syndrome gene (AHI1) with autism. Alvarez Retuerto A.I., Cantor R.M., Gleeson J.G., Ustaszewska A., Schackwitz W.S., Pennacchio L.A., Geschwind D.H. Hum. Mol. Genet. 17:3887-3896(2008) · Mapped (7) |
| Glucose regulates the expression of the apolipoprotein A5 gene. Nowak M., Helleboid-Chapman A., Jakel H., Moitrot E., Rommens C., Pennacchio L.A., Fruchart-Najib J., Fruchart J.C. J. Mol. Biol. 380:789-798(2008) · Mapped (3) |
| The amphioxus genome and the evolution of the chordate karyotype. Putnam N.H., Butts T., Ferrier D.E.K., Furlong R.F., Hellsten U., Kawashima T., Robinson-Rechavi M., Shoguchi E., Terry A., Yu J.-K. et al. Nature 453:1064-1071(2008) · UniProtKB (28,535) |
| In vivo characterization of human APOA5 haplotypes. Ahituv N., Akiyama J., Chapman-Helleboid A., Fruchart J., Pennacchio L.A. Genomics 90:674-679(2007) · Mapped (3) |
| Deletion of ultraconserved elements yields viable mice. Ahituv N., Zhu Y., Visel A., Holt A., Afzal V., Pennacchio L.A., Rubin E.M. PLoS Biol. 5:e234-e234(2007) · Mapped (30) |
| Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Pandit B., Sarkozy A., Pennacchio L.A., Carta C., Oishi K., Martinelli S., Pogna E.A., Schackwitz W., Ustaszewska A., Landstrom A. et al. |
| Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. Bleyl S.B., Moshrefi A., Shaw G.M., Saijoh Y., Schoenwolf G.C., Pennacchio L.A., Slavotinek A.M. Eur. J. Hum. Genet. 15:950-958(2007) · Mapped (12) |
| A common allele on chromosome 9 associated with coronary heart disease. McPherson R., Pertsemlidis A., Kavaslar N., Stewart A., Roberts R., Cox D.R., Hinds D.A., Pennacchio L.A., Tybjaerg-Hansen A., Folsom A.R. et al. Science 316:1488-1491(2007) · Mapped (13) |
| Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Romeo S., Pennacchio L.A., Fu Y., Boerwinkle E., Tybjaerg-Hansen A., Hobbs H.H., Cohen J.C. |
| Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Tartaglia M., Pennacchio L.A., Zhao C., Yadav K.K., Fodale V., Sarkozy A., Pandit B., Oishi K., Martinelli S., Schackwitz W. et al. |
| Human cathepsin L rescues the neurodegeneration and lethality in cathepsin B/L double-deficient mice. Sevenich L., Pennacchio L.A., Peters C., Reinheckel T. Biol. Chem. 387:885-891(2006) · Mapped (16) |
| A PYY Q62P variant linked to human obesity. Ahituv N., Kavaslar N., Schackwitz W., Ustaszewska A., Collier J.M., Hebert S., Doelle H., Dent R., Pennacchio L.A., McPherson R. Hum. Mol. Genet. 15:387-391(2006) · Mapped (1) |
| Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. Marcais C., Verges B., Charriere S., Pruneta V., Merlin M., Billon S., Perrot L., Drai J., Sassolas A., Pennacchio L.A. et al. J. Clin. Invest. 115:2862-2869(2005) · UniProtKB (1) |
| Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants. Grosskopf I., Baroukh N., Lee S.J., Kamari Y., Harats D., Rubin E.M., Pennacchio L.A., Cooper A.D. Arterioscler. Thromb. Vasc. Biol. 25:2573-2579(2005) · Mapped (29) |
| Lack of support for the association between GAD2 polymorphisms and severe human obesity. Swarbrick M.M., Waldenmaier B., Pennacchio L.A., Lind D.L., Cavazos M.M., Geller F., Merriman R., Ustaszewska A., Malloy M., Scherag A. et al. PLoS Biol. 3:e315-e315(2005) · Mapped (7) |
| Lack of MEF2A mutations in coronary artery disease. Weng L., Kavaslar N., Ustaszewska A., Doelle H., Schackwitz W., Hebert S., Cohen J.C., McPherson R., Pennacchio L.A. J. Clin. Invest. 115:1016-1020(2005) · Mapped (5) |
