Results 11 to 20 of about 2,222,994 (259)

K-ras and p53 mutations in colonic lavage fluid of patients with colorectal neoplasias [PDF]

, 2001
Background: The adenoma-carcinoma sequence has its molecular basis in several gene mutations of which K-ras and p53 are of paramount importance. The aims of this study were to evaluate whether these genetic alterations can be detected in colonic lavage ...
Folwaczny, Christian, Heinzlmann, M., Neynaber, S., Heldwein, W.   +3 more
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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH, Kapoor, RR, Hussain, K., Rubio-Cabezas, O., Kapoor, R. R., Banerjee, I, Sianhanidou, T, Siahanidou, T., Flanagan, SE, Akcay, T, Akcay, T., Cody, D., Siahanidou, T, Hussain, K, Ellard, S., Mali, G, Cody, D, Shield, JP, Shield, J. P. H., Rubio-Cabezas, O, Mali, G., Schwahn, B., Flanagan, S. E., Murphy, N, Murphy, N., Banerjee, I., Ellard, S, Schwahn, B   +27 more
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Dihydropteroate synthase gene mutations in Pneumocystis and sulfa resistance [PDF]

, 2004
Pneumocystis pneumonia (PCP) remains a major cause of illness and death in HIV-infected persons. Sulfa drugs, trimethoprim-sulfamethoxazole (TMP-SMX) and dapsone are mainstays of PCP treatment and prophylaxis.
Meja Rabodonirina, Chiara Atzori, Benfield, T, Helweg-Larsen, J, Rabodonirina, Meja, Robert Miller, Crothers, KA, Thomas Benfield, Huang, Laurence, Atzori, C, Rabodonirina, M, Laurence Huang, Kristina Crothers, Miller, R, Haung, L, Helweg-Larsen, Jannik, Jannik Helweg-Larsen, Miller, Robert, Crothers, Kristina, Benfield, Thomas, Atzori, Chiara   +20 more
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Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations [PDF]

, 2006
Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by ...
Bartnik, Ewa, Lorenc, Anna, Bryk, Jarek, Ewa Bartnik, Semczuk, Andrzej, Putowski, Lechoslaw, Anna Lorenc, Miotla, Pawel, Lechoslaw Putowski, Jaroslaw Bryk, Konrad Futyma, Andrzej Semczuk, Futyma, Konrad, Pawel Miotla   +13 more
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Studies of JAK2 mutations in myeloproliferative disorders [PDF]

, 2008
Myeloproliferative disorders (MPD) are diseases characterized by clonal hematopoiesis with overprodution of mature cells from erythroid, megakaryocytic and myeloid lineages.
Li, Sai
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K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder [PDF]

, 2011
The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). To test the functional significance of FGFR3 activating mutations as a ‘driver’ of UCC, we targeted the expression of mutated
Taketo, M.M., Leung, H.Y., Hing Y. Leung, Wu, X.-R., Iwata, T., Mona Foth, Morris, C.-A., Owen J. Sansom, Lukram Babloo Singh, Tomoko Iwata, Imran Ahmad, Carol-Ann Morris, Makoto Mark Taketo, Singh, L.B., Foth, M., Sansom, O.J., Xue-Ru Wu, Ahmad, I.   +17 more
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Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor [PDF]

, 2007
More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed.
Stäubert, Claudia, Tarnow, Patrick, Pitra, Christian, Gudermann, T., Stäubert, C. ; https://orcid.org/, Tarnow, P., Brumm, H., Römpler, Holger, Grüters, A., Biebermann, H., Brumm, Harald, Pitra, C., Gudermann, Thomas, Biebermann, Heike, Schöneberg, T., Schöneberg, Torsten, Römpler, H., Grüters, Annette   +17 more
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Évaluation régionale LEADER en Auvergne : un bilan mitigé et contrasté en termes de valeur ajoutée [PDF]

Sciences, Eaux & Territoires, 2014
Le programme d’initiative européenne LEADER constitue l’un des outils à disposition des territoires organisés pour l’élaboration, l’animation, et la mise en œuvre de stratégies locales de développement économique en milieu rural.
MATHÉ, Joris, VOLLET, Dominique, LÉPICIER, Denis, LÉPICIER, Denis   +3 more
doaj  

Caractériser la propriété foncière sur un territoire : l’identification de « profils » de propriétaires pour une meilleure adaptation de l’action publique et collective [PDF]

Sciences, Eaux & Territoires, 2014
La complexité des enjeux fonciers appelle à une gouvernance mieux adaptée aux situations locales. Alors qu’elle peut constituer un facteur de blocage majeur, la situation en matière de répartition de la propriété est rarement intégrée dans les réflexions.
GUERINGER, Alain, GUERINGER, Alain
doaj  

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy [PDF]

, 2012
Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively ...
Baharak Hooshiar Kashani, Valentino, M. (M) L. (L), Bernd Wissinger, Sascha Fauser (144944), Dollfus, Helene, Valerio Carelli (24588), Barboni P., Helene Dollfus, Pizza, F. (F), Fauser Sascha, De Negri AM, Wissinger B., Chiara La Morgia, Chiara La Morgia (24595), Procaccio P, Piero Barboni, Fabio Pizza, Dollfus H., Valerio Carelli, Achilli, A., Liguori R., Dollfus H, Carelli, Valerio, Zeviani M, Torroni, Antonio, Barboni, P. (P), Rocco Liguori, Hooshiar Kashani, Baharak, P. Barboni, De Negri A. M., B. Leo-Kottler, Hooshiar Kashani Baharak, Amati-Bonneau Patrizia, Luisa Iommarini (144907), Vincent Procaccio, Massimo Zeviani (81459), Achilli, A. (A), Sadun, F., A. Achilli, Ducos Ghislaine, Wissinger, Bernd, Achilli A., Zeviani Massimo, Bonneau, D. (D), Christophe Orssaud, Massimo Zeviani, Maria Lucia Valentino, La Morgia C, Patrizia Amati-Bonneau (144951), Dollfus Helene, Maria Lucia Valentino (144915), Torroni, A., Maria Pala, Reynier, Pascal, Leo-Kottler Beate, La Morgia C., Iommarini Luisa, Amati-Bonneau, P. (P), Pizza F, Achilli Alessandro, Reynier, P. (P), Pizza, Fabio, Ducos, G. (G), Olivieri, A. (A), Procaccio V., Iommarini L., Hooshiar Kashani B., Valentino ML, C. Orssaud, Procaccio, Vincent, Leo-Kottler B., Torroni Antonio, Moulignier A., Liguori, R. (R), Zeviani, Massimo, Carelli Valerio, Orssaud, Christophe, Hooshiar Kashani, B. (B), Leo Kottler B, Liguori, Rocco, De Negri, A. (A) M. (M), Antoine Moulignier, Barboni P, Piero Barboni (24591), Dominique Bonneau, Wissinger, B. (B), Pala, M. (M), P. Reynier, P. Amati-Bonneau, A. Olivieri, M. Zeviani, Pizza F., C. La Morgia, Federico Sadun (144922), S. Fauser, Barboni, Piero, Orssaud, C. (C), Pala, Maria, Sadun, Federico, Baharak Hooshiar Kashani (144912), Moulignier, Antoine, Fauser, S. (S), Anna Maria De Negri, F. Pizza, Antonio Torroni, Fabio Pizza (144919), Sadun F, Bonneau D, Barboni, P., R. Liguori, Fauser, S., Valentino, M., Amati-Bonneau, Patrizia, Dominique Bonneau (144939), Pascal Reynier (92729), De Negri, Anna Maria, Ghislaine Ducos (144931), H. Kashani, Moulignier A, Moulignier, A. (A), La Morgia, Chiara, Alessandro Achilli, Orssaud Christophe, Carelli, V. (V), Procaccio, V. (V), Fauser, Sascha, Beate Leo-Kottler (144941), Sadun, F. (F), De Negri Anna Maria, Reynier Pascal, Amati-Bonneau P., Federico Sadun, Vincent Procaccio (68193), Pala M., Carelli V., Helene Dollfus (144926), Pascal Reynier, La Morgia Chiara, Beate Leo-Kottler, F. Sadun, Sadun F., Fauser S, M. Pala, Anna Olivieri, Antonio Torroni (42164), Rocco Liguori (144916), H. Dollfus, Fauser S., Leo-Kottler, B., Maria Pala (144910), Olivieri Anna, Anna Olivieri (144908), Amati Bonneau P, de Negri, A., Ghislaine Ducos, Anna Maria De Negri (144924), Moulignier, A., Pala Maria, Luisa Iommarini, Kashani, Hooshiar, Liguori, R., Torroni A., Pala, M., Liguori R, D. Bonneau, Bonneau, Dominique, M.L. Valentino, A. Moulignier, Zeviani, M. (M), Ducos, Ghislaine, Olivieri A., Sascha Fauser, Olivieri, Anna, La Morgia, C. (C), Ducos, G., Antoine Moulignier (144928), Iommarini L, Orssaud C, Bonneau D., A.M. De Negri, Bernd Wissinger (24666), L. Iommarini, Leo-Kottler, Beate, Pizza, F., Valentino M. L., Reynier P, Barboni Piero, Ducos G, Olivieri, A., Ducos G., Bonneau Dominique, Iommarini, Luisa, Leo Kottler B., Reynier P., Orssaud C., Christophe Orssaud (144936), Amati Bonneau P., V. Carelli, V. Procaccio, Zeviani M., Valentino Maria Lucia, Sadun Federico, Dollfus, H. (Helene), Leo-Kottler, B. (B), Iommarini, L. (L), A. Torroni, Procaccio Vincent, B. Wissinger, Wissinger Bernd, Wissinger B, Torroni, A. (A), Achilli, Alessandro, Alessandro Achilli (42157), Liguori Rocco, Valentino, Maria Lucia, Patrizia Amati-Bonneau, Pizza Fabio, Moulignier Antoine, G. Ducos, Iommarini, L.   +219 more
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