Effects of energetic restriction diet on butyrylcholinesterase in obese women from southern Brazil – A longitudinal study af Willian dos Santos, Luciane Viater Tureck, Louise Farah Saliba, Caroline Schovanz Schenknecht, Débora Scaraboto, Ricardo Lehtonen R. Souza, Lupe Furtado-Alle

Få fuldtekst

Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region. af Vanharanta, S, Wortham, N, Langford, C, El-Bahrawy, M, van der Spuy, Z, Sjöberg, J, Lehtonen, R, Karhu, A, Tomlinson, I, Aaltonen, L

NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms af Vanessa Zanette, Daniel do Valle, Bruno Augusto Telles, Alan J. Robinson, Vaneisse Monteiro, Mara Lucia S. F. Santos, Ricardo Lehtonen R. Souza, Cristiane Benincá

Få fuldtekst

Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women af Jéssica de Oliveira, Luciane Viater Tureck, Willian dos Santos, Louise Farah Saliba, Caroline Schovanz Schenknecht, Débora Scaraboto, Ricardo Lehtonen R. Souza, Lupe Furtado-Alle

Få fuldtekst

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis af Kokko, A, Laiho, P, Lehtonen, R, Korja, S, Carvajal-Carmona, L, Järvinen, H, Mecklin, J, Eng, C, Schleutker, J, Tomlinson, I, Vahteristo, P, Aaltonen, L

GWAS-Top Polymorphisms Associated With Late-Onset Alzheimer Disease in Brazil: Pointing Out Possible New Culprits Among Non-Coding RNAs af Gabriela Canalli Kretzschmar, Nina Moura Alencar, Saritha Suellen Lopes da Silva, Carla Daniela Sulzbach, Caroline Grisbach Meissner, Maria Luiza Petzl-Erler, Ricardo Lehtonen R. Souza, Angelica Beate Winter Boldt

Få fuldtekst

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome. af Alhopuro, P, Katajisto, P, Lehtonen, R, Ylisaukko-Oja, S, Näätsaari, L, Karhu, A, Westerman, A, Wilson, J, de Rooij, F, Vogel, T, Moeslein, G, Tomlinson, I, Aaltonen, L, Mäkelä, T, Launonen, V

Neutrophil Extracellular Traps: A Perspective of Neuroinflammation and Complement Activation in Alzheimer’s Disease af Gabriela Canalli Kretzschmar, Valéria Bumiller-Bini, Miguel Angelo Gasparetto Filho, Yohan Ricci Zonta, Kaio Shu Tsyr Yu, Ricardo Lehtonen R. de Souza, Luciane Alarcão Dias-Melicio, Luciane Alarcão Dias-Melicio, Angelica Beate Winter Boldt

Få fuldtekst

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. af Ahvenainen, T, Lehtonen, H, Lehtonen, R, Vahteristo, P, Aittomäki, K, Baynam, G, Dommering, C, Eng, C, Gruber, S, Grönberg, H, Harvima, R, Herva, R, Hietala, M, Kujala, M, Kääriäinen, H, Sunde, L, Vierimaa, O, Pollard, P, Tomlinson, I, Björck, E, Aaltonen, L, Launonen, V

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. af Tuupanen, S, Turunen, M, Lehtonen, R, Hallikas, O, Vanharanta, S, Kivioja, T, Björklund, M, Wei, G, Yan, J, Niittymäki, I, Mecklin, J, Järvinen, H, Ristimäki, A, Di-Bernardo, M, East, P, Carvajal-Carmona, L, Houlston, R, Tomlinson, I, Palin, K, Ukkonen, E, Karhu, A, Taipale, J, Aaltonen, L

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. af Tomlinson, I, Alam, N, Rowan, A, Barclay, E, Jaeger, E, Kelsell, D, Leigh, I, Gorman, P, Lamlum, H, Rahman, S, Roylance, R, Olpin, S, Bevan, S, Barker, K, Hearle, N, Houlston, R, Kiuru, M, Lehtonen, R, Karhu, A, Vilkki, S, Laiho, P, Eklund, C, Vierimaa, O, Aittomäki, K, Hietala, M

Germline mutations in BMPR1A/ALK3 cause a subset of cases of Juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes af Zhou, X, Woodford-Richens, K, Lehtonen, R, Kurose, K, Aldred, M, Hampel, H, Launonen, V, Virta, S, Pilarski, R, Salovaara, R, Bodmer, W, Conrad, B, Dunlop, M, Hodgson, S, Iwama, T, Järvinen, H, Kellokumpu, I, Kim, J, Leggett, B, Markie, D, Mecklin, J, Neale, K, Phillips, R, Piris, J, Rozen, P

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. af Zhou, X, Woodford-Richens, K, Lehtonen, R, Kurose, K, Aldred, M, Hampel, H, Launonen, V, Virta, S, Pilarski, R, Salovaara, R, Bodmer, W, Conrad, B, Dunlop, M, Hodgson, S, Iwama, T, Järvinen, H, Kellokumpu, I, Kim, J, Leggett, B, Markie, D, Mecklin, J, Neale, K, Phillips, R, Piris, J, Rozen, P