Search Results - "Funari, L."

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia by Prenen, Jean, Owsianik, Grzegorz, Voets, Thomas, Funari, Tara L, Nelson, Stanley F, Lachman, Ralph S, Merriman, Barry, Reyno, Soraya, Vaglio, Alicia, Cohn, Daniel H, Funari, Vincent A, Rock, Matthew J, Rimoin, David L, Nilius, Bernd, Nagai, Toshiro, Janssens, Annelies, Wilcox, William R, Quadrelli, Roberto, Ikegawa, Shiro

“…The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short…”
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia by Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.

“…The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the…”
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BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing by Funari, Vincent A., Krakow, Deborah, Nevarez, Lisette, Chen, Zugen, Funari, Tara L., Vatanavicharn, Nithiwat, Wilcox, William R., Rimoin, David L., Nelson, Stanley F., Cohn, Daniel H.

“…Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. The low frequency and perinatal lethality of DSD makes…”
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An AFM, XPS and electrochemical study of molecular electroactive monolayers formed by wet chemistry functionalization of H-terminated Si(1 0 0) with vinylferrocene by Zanoni, R., Cattaruzza, F., Coluzza, C., Dalchiele, E.A., Decker, F., Di Santo, G., Flamini, A., Funari, L., Marrani, A.G.

“…Molecular electroactive monolayers have been produced from vinylferrocene (VFC) via light-assisted surface anchoring to H-terminated n- and p-Si(1 0 0) wafers…”
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A mild functionalization route to robust molecular electroactive monolayers on Si(100) by Zanoni, R., Aurora, A., Cattaruzza, F., Coluzza, C., Dalchiele, E.A., Decker, F., Di Santo, G., Flamini, A., Funari, L., Marrani, A.G.

“…Light-assisted surface anchoring to H-terminated n- and p-Si(100) wafers has resulted in the production of molecular electroactive monolayers from Si–C bound…”
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Abstract: P871 PARAOXONASE POLYMORPHISM IS AN INDEPENDENT PREDICTOR OF 5-YEAR MORTALITY IN STABLE CORONARY DISEASE by Ferri, L Funari, Pereira, A, Hueb, W, Krieger, J, Lopes, N

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