Results 41 to 50 of about 9,621,488 (249)
Genomic landscape of pancreatic cancer in the Japanese version of the Cancer Genome Atlas
Annals of Gastroenterological Surgery, 2023 Background Pancreatic cancer (PC) is one of the most aggressive cancers worldwide. Although many studies have investigated genomic alterations, the genomic landscape of Japanese PC patients has not been fully elucidated.Taisuke Imamura, Ryo Ashida, Keiichi Ohshima, Katsuhiko Uesaka, Teiichi Sugiura, Yukiyasu Okamura, Katsuhisa Ohgi, Sumiko Ohnami, Takeshi Nagashima, Ken Yamaguchi +9 moredoaj +1 more sourceUsing Copy Number Variation Data and Neural Networks to Predict Cancer Metastasis Origin Achieves High Area under the Curve Value with a Trade-Off in Precision
Current Issues in Molecular BiologyThe accurate identification of the primary tumor origin in metastatic cancer cases is crucial for guiding treatment decisions and improving patient outcomes.Michel-Edwar Mickael, Norwin Kubick, Atanas G. Atanasov, Petr Martinek, Jarosław Olav Horbańczuk, Nikko Floretes, Michael Michal, Tomas Vanecek, Justyna Paszkiewicz, Mariusz Sacharczuk, Piotr Religa +10 moredoaj +1 more sourceGenetics of strabismus
Frontiers in Ophthalmology, 2023 Strabismus, or misalignment of the eyes, is the most common ocular disorder in the pediatric population, affecting approximately 2%–4% of children. Strabismus leads to the disruption of binocular vision, amblyopia, social and occupational discrimination, Mayra Martinez Sanchez, Mayra Martinez Sanchez, Mary C. Whitman, Mary C. Whitman, Mary C. Whitman +4 moredoaj +1 more sourceExpanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis
Molecular Genetics & Genomic Medicine, 2023 Background Very long‐chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi +18 moredoaj +1 more sourceCopy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in Sub-Saharan Africa [PDF]
, 2013 AIDS, caused by the retrovirus HIV, remains the largest cause of morbidity in sub-Saharan Africa yet almost all genetic studies have focused on cohorts from Western countries.F. Mugusi (7640813), Makonnen, Eyasu, Bowdrey, Jennifer, Viskaduraki Maria, Lee R. Machado (7638830), Eleni Aklillu (316254), Eyasu Makonnen (157087), Mugusi Sabina, Omary Minzi, Mugusi Ferdinand, Getachew Aderaye, Hollox, Edward J, Mohammed Janabi, Yimer Getnet, Machado, Lee, J. Bowdrey (7640783), Eleni Aklillu, Maria Viskaduraki (481734), Bowdrey Jennifer, W. Amogne (7640801), Habtewold Abiy, Minzi Omary, Viskaduraki, Maria, A. Habtewold (7640789), M. Viskaduraki (7640816), Ngaimisi Eliford, Ferdinand Mugusi, Jennifer Bowdrey (481733), Mugusi, Ferdinand, Lee R Machado, Edward J. Hollox (7583051), Abiy Habtewold, Wondwossen Amogne (338194), Lee R. Machado, L. R. Machado (7640780), Sabina Mugusi (316245), O. Minzi (7640792), G. Aderaye (7640810), Aklillu Eleni, Wondwossen Amogne, S. Mugusi (7640804), Getnet Yimer (338188), Ngaimisi, Eliford, Amogne Wondwossen, G. Yimer (7640798), Machado Lee R., E. Aklillu (7640819), Aderaye, Getachew, Hollox Edward J., Minzi, Omary, Aderaye Getachew, Omary Minzi (316248), Makonnen Eyasu, Maria Viskaduraki, Abiy Habtewold (338191), Habtewold, Abiy, E. Ngaimisi (7640786), Jennifer Bowdrey, Eliford Ngaimisi (316246), Eliford Ngaimisi, Mugusi, Sabina, E. Makonnen (7640795), Yimer, Getnet, Amogne, Wondwossen, Mohammed Janabi (431118), Eyasu Makonnen, Edward J. Hollox, Janabi, Mohammed, Aklillu, Eleni, Machado, Lee; id_orcid, Janabi Mohammed, Edward J Hollox, M. Janabi (7640807), Ferdinand Mugusi (214835), Sabina Mugusi, Getnet Yimer, Getachew Aderaye (338201) +76 morecore +2 more sourcesVisualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator
BMC Genomics, 2023 Background All cancers harbor somatic mutations in their genomes. In principle, mutations affecting between one and fifty base pairs are generally classified as small mutational events.Azhar Khandekar, Raviteja Vangara, Mark Barnes, Marcos Díaz-Gay, Ammal Abbasi, Erik N. Bergstrom, Christopher D. Steele, Nischalan Pillay, Ludmil B. Alexandrov +8 moredoaj +1 more source“We Cannot Talk as a Family”: Complexities of Survivorship Communication Among Hispanic/Latino Young Adult Survivors of Childhood Cancer, Parents, and Clinicians
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background
Young adult childhood cancer survivors (YA‐CCS) have an increased risk of treatment‐related health complications throughout their lives. Lifelong survivorship care is recommended, yet many YA‐CCS experience disruptions in care during pediatric‐to‐adult transitions and do not receive recommended survivorship care.Kevin Shanchen Pu, Nicole Fernández‐Viña, Briana C. Martin‐Villa, Daniela Ramirez, Rebecca M. Lewinsohn, Mary Smith, Heidi Boynton, Lidia Schapira, Stephanie M. Smith +8 morewiley +1 more sourceA novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder [PDF]
, 2011 Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social ...Guter, Stephen J., Cuccaro, Michael L., Buxbaum, Joseph D, McDougle CJ, Pericak-Vance, M.A., Hilary Coon, Simon Wallace, Gillberg, C, Coon, H., Magalhaes, Tiago, Richard Anney, Parrini, Barbara, Nadia Bolshakova, Foley, S, Van Engeland, H, Sabine M. Klauck, Casey, Jillian P, Louise Gallagher, Gill, Christopher, Zwaigenbaum, Lonnie, McGrath, J., Ann Le Couteur, Anney, Ann, Hallmayer, Joachim, Piven, J., Vorstman, J.A., Tauber M, Sutcliffe, James S, Yaspan, BL, Sousa, I., Leboyer, Marion, Cali P, Munson, Jeff, Buxbaum, Joseph D., Bolshakova N, Glessner JT, Mantoulan C, Sykes, N., Vincent, J.B., Freitag, C.M., Almeida, J., Nurnberger JI Jr, Cantor RM, Foley, Suzanne, Pinto, D., White K, Roge, B., Parr JR, Vicente, Astrid, Miller J, McGrath J, Gillian Hughes, Holt R, Veronica J. Vieland, Hallmayer, J, McDougle, CJ, Hakonarson, Hakon, Bourgeron, T, de Jonge, M., Duque, Fred, Van Engeland, Herman, Fombonne E, Betancur C, Pagnamenta, A.T., Magalhaes, T, Poustka, F., Mantoulan, C., Papanikolaou K, Piven J, Regan, R, McMahon, W.M., Regina Regan, Regan R, White, K, Folstein, Susan E., Anney, R., Folstein, Susan E, Vicente, Astrid M., Gallagher L, Abrahams, B.S., Green, J., Hallmayer J, Posey, DJ, Wang, K., Stephen W. Scherer, Maïté Tauber, Agatino Battaglia, Rutter ML, Delorme, R, Jeff Munson, Jiannis Ragoussis, Soorya, L., Coon H, Rutter, Michael L., Yaspan, B.L., Klauck, Sabine M., John I. Nurnberger, Scherer, SW, Marshall, Christian R., Anthony J. Bailey, Anthony P. Monaco, Klauck, Sabine M, Yaspan BL, Annemarie Poustka, Joachim Hallmayer, Shields, Denis C., Wassink, T.H., Bridget A. Fernandez, Stoppioni, V., Stoppioni, V, Magalhães, Tiago R., Ragoussis, J., Shields, D.C., Oliveira, G, Bailey, Anthony J, Bennett L. Leventhal, Fernandez, B.A., John B. Vincent, Catalina Betancur, Marion Leboyer, Bolshakova, Nadia, Vincent, John B, Cantor, R.M., Leventhal, B.L., Scherer, Stephen W, Peter Szatmari, Gilbert, John, Farrar, P., Christina Corsello, Helen McConachie, Gilbert J, Haines, Jonathan L., Cook, E.H., Casey JP, Vanessa Hus, Wijsman, Ellen M, Magalhaes, T., Tauber, M., Estes, A., Almeida J, Berney, Tom, et al., Hakonarson, H., Igliozzi, R, McConachie H, Gillberg, Christopher, Nurnberger, John I., Jr., Bolton, PF, Le Couteur, Ann, Holt, Richard, Folstein, S.E., William M. McMahon, Berney, T, Delorme R, Buxbaum JD, Wijsman, E.M., Baird, G, Munson, J., Casey, JP, Gilbert, J, McConachie, H., Bailey AJ, Hughes, G., Lord, Catherine, Thompson, Ann P., Poustka, Annemarie, Mantoulan, Carine, Vincent, John B., Volkmar, F., Gilbert, J., Janine A. Lamb, Vieland, V.J., Bourgeron, Thomas, Vieland, VJ, Marshall, CR, Schellenberg, Gerard D., Penny Farrar, Zwaigenbaum, L, Merikangas, A, Coutanche, M, Shah N, Rutter, Michael L.; id_orcid, Bacchelli, Elena, Bacchelli, E, Wing, K., Freitag CM, Nelson SF, Schellenberg GD, Alison Merikangas, Coutanche, M., Corsello C, David J. Posey, Wijsman, Ellen M., Wing, Kirsty, Pickles, A, Scherer, Stephen W., Nygren, Gudrun, Folstein SE, Leboyer M, McConachie, H, Parrini, B, de Jonge, M, Le Couteur, A., Guter SJ, Bolshakova, N, Rutter, M.L., Lamb, Janine A.; id_orcid, Szatmari P, Cantor, RM, Gallagher, L., Parrini B, Betancur, C, Papanikolaou, Katerina, Sutcliffe, JS, Schellenberg, G.D., McMahon, William M., Sutcliffe, J.S., Pickles, A., Farrar P, Glessner, JT, Gill, M, Lund, SC, Vincent, JB, Correia, C, Anney R, Monaco, Anthony P., Gillberg, C., Haines, J.L., Sousa I, Igliozzi R, Marshall, C.R., Jillian P. Casey, Tsiantis, J, Lund, Sabata C, Sykes, N, Green, Jonathan; id_orcid, Bolton, P.F., Stoppioni, Vera, Cook, Edwin H., Szatmari, Peter, Green, Andrew, Soorya, L, Parrini, B., Dawson G, Wijsman, EM, Couteur, Ann Le, Wittemeyer K, Papanikolaou, K., Jeremy R. Parr, Ennis, Sean, Duketis E, Volkmar F, Vincent JB, Igliozzi, Roberta, Ann P. Thompson, Merikangas, A., Foley S, Cali, Phil, Guter, S.J., Maestrini, Elena, White, K., McGrath, J, Geschwind, D.H., Christopher J. McDougle, Posey DJ, Coutanche, Marc, Sousa, I, Alexander Kolevzon, Wassink, Thomas H, Ragoussis, Jiannis, Yaspan, Brian L., James S. Sutcliffe, Shields DC, Thompson, AP, Minopoli, F., Vieland VJ, Hakonarson, H, Corsello, C, Mantoulan, C, Cuccaro, Michael L, Leventhal BL, Brennan S, Estes, Ann, Mirza, Ghazala K., Pagnamenta, AT, Dawson, Geraldine, Vieland, Veronica J, Ragoussis J, Vicente, A, Nygren, Gudrun,, Thomson, Susanne, Farrar, P, McDougle, Christopher J., Glessner, J.T., Mcmahon, William M, Tancredi R, Nurnberger, JI, Kim, C, Lamb, J.A., Battaglia A, Sean Brennan, Poustka, A., Conroy JM, Kirsty Wing, Abrahams BS, Sequeira, AF, Tancredi, Raffaella, Catarina Correia, Posey, D.J., Coon, Hilary, Rita M. Cantor, Stanley F. Nelson, Bailey, A.J., McMahon, WM, Conroy, Judith M, Judith Miller, Tancredi, R, Casey, J.P., Jonathan L. Haines, Gillberg C, Duketis, E, Brennan, S, Freitag, Christine M., Wassink TH, Buxbaum, J.D., Battaglia, A., Mirza, Ghazala K, Jane McGrath, Fernandez, Bridget A., Cantor, Rita M., Catherine Lord, Delorme, Richard, Gillberg, Christopher,, Pinto, Dalila, Wallace, Simon, Nelson, Stanley F, Miller, J, Berney T, Cecilia Kim, Gill, Michael, McMahon WM, Coon, H, Joseph Piven, Elena Maestrini, Gerard D. Schellenberg, Freitag, Christine M, Lord C, Vorstman, Jacob A. S., Battaglia, A, Rutter, ML, Correia, Catarina, Nygren G, Ennis, S, Margaret A. Pericak-Vance, Kolevzon, A, Kolevzon A, Fombonne, E., Bernadette Roge, Cuccaro ML, Anney, Richard, Holt, R., Berney, T., Baird G, Casey, Jillian P., de Jonge M, Cali, P., Vorstman, Jacob AS, Hus, V., Lord, C, Van Engeland, H., Glessner, Joseph T, Raffaella Tancredi, Vera Stoppioni, Andrew Pickles, Fernandez, Bridget A, Edwin H. Cook, Rutter, Michael L, Lonnie Zwaigenbaum, Lund, Sabata C., Sequeira, Ana F., Klauck, SM, Van Engeland H, Vorstman JA, Eric Fombonne, Kathy White, Tsiantis, J., Pagnamenta, Alistair T., Maretha de Jonge, Almeida, Joana, Wallace, S, Stephen J. Guter, Leboyer, M., Tom Berney, Daniel H. Geschwind, Volkmar, F, Munson, J, Thompson, Ann P, Baird, G., Glessner, Joseph T., Wang, K, Foley, S., Holt, R, Engeland, Herman van, Pickles A, Green A, Ennis, S., Nurnberger, John I., Dawson, G, Joseph D. Buxbaum, Fiorella Minopoli, Conroy, Judith M., Green J, Geschwind, Daniel H, Pickles, Andrew, Bacchelli, E., Roge, B, Monaco, A.P., Nurnberger, J.I. Jr, Guter, SJ, Bolshakova, N., Poustka, A, Christopher Gillberg, Guiomar Oliveira, Szatmari, P., Poustka, F, Bolton, Patrick F., Thompson, A.P., Nygren, G, Ana F. Sequeira, Maestrini, E, Regan, Regina, Thompson AP, Latha Soorya, Bailey, Anthony J., Bourgeron, T., Duque, F., Gill M, Mirza GK, Fernandez, BA, Christian R. Marshall, Geschwind, DH, Duque, F, Fred Volkmar, Hus, Vanessa, Ghazala K. Mirza, Ellen M. Wijsman, Posey, David J., Kolevzon, A., Klauck, S.M., Duketis, Eftichia, Roberta Igliozzi, Glessner, Joseph, Mirza, GK, Monaco, AP, Piven, Joseph, Leventhal, BL, Soorya, Latha, Hallmayer, J., Soorya L, Yaspan, Brian L, Abrahams, Brett S., Sykes N, Hakonarson H, Stoppioni V, Pericak-Vance, Margaret A., Thomas Bourgeron, Haines, Jonathan L, Abrahams, BS, Astrid Vicente, Brett S. Abrahams, McGrath, Jane, Fombonne, E, Wittemeyer, K, Gill, M., Tauber, Maïté, Wallace S, Leboyer, M, Nelson, Stanley F., Papanikolaou, K, Lund SC, Geraldine Dawson, Cook, Edwin H, Roge, Bernadette, Sykes, Nuala, Marshall, Christian R, Hughes, G, Alistair T. Pagnamenta, Duketis, E., Pericak-Vance, Margaret A, Wing, K, Pagnamenta AT, Brian L. Yaspan, Cali, P, Herman Van Engeland, Sutcliffe, James S., Estes, A, Correia, C., Folstein, SE, Sutcliffe JS, Joana Almeida, Guter, Stephen J, Joseph T. Glessner, Gillian Baird, Shah, Naisha, Fernandez BA, Frederico Duque, Oliveira G, Annette Estes, Lamb, Janine A., Schellenberg, Gerard D, Wittemeyer, K., Dawson, G., Kerstin Wittemeyer, Tauber, M, Sequeira AF, Brennan, S., Schellenberg, GD, Cantor, Rita M, Green, Jonathan, Zwaigenbaum, L., Elena Bacchelli, Christine M. Freitag, Tancredi, R., Fritz Poustka, Sequeira, Ana F, Hughes G, Lamb, JA, Thomas H. Wassink, Nurnberger, John I, Ennis S., Nelson, SF, Kim, Cecilia, Parr, Jeremy R., Sequeira, A.F., Lamb JA, Duque, Frederico, Brennan, Sean, Richard Delorme, Sousa, Inês, Klauck SM, Parr, JR, Estes, Annette, Katerina Papanikolaou, Gallagher, L, Sabata C. Lund, Phil Cali, Igliozzi, R., Cuccaro, Michael, Pericak-Vance, MA, Mirza, G.K., Tsiantis, John, Kai Wang, Hus, V, Betancur, Catalina, Kim C, Susan E. Folstein, Haines, JL, Geschwind, Daniel H., Corsello, Christina, Leventhal, Bennett L, Baird, Gillian, Oliveira, G., Leventhal, Bennett L., Wassink, TH, Wassink, Thomas H., Dalila Pinto, Inês Sousa, Minopoli, Fiorella, Bourgeron T, Marshall CR, Jonge, Maretha de, Cuccaro, ML, De Jonge, Maretha, Szatmari, P, McConachie, Helen, Thomson S, Kim, C., Piven, J, Fombonne, Eric, Cook, EH, Jacob A. S. Vorstman, Hakon Hakonarson, Gudrun Nygren, Denis C. Shields, Thomson, S, Roge B, Munson J, Rutter, Michael, Estes A, Barbara Parrini, Magalhaes T, Kolevzon, Alexander, Buxbaum, JD, Green, A., Nelson, S.F., Suzanne Foley, John Gilbert, Shields, Denis C, Corsello, C., Poustka, Fritz, Posey, David J, Michael L. Cuccaro, Bolton, Patrick F, Poustka F, Merikangas A, Green, J, Monaco, Anthony P, Jonathan Green, Vicente, A.M., White, Kathy, Gallagher, Louise, Andrew Green, Correia C, Wang K, McDougle, C.J., Wijsman EM, Pericak-Vance, Margaret Ann, Pericak Vance MA, Vicente A, Cuccaro, M.L., Lamb, Janine A, Anney, R, Poustka A, Lord, C., Green, A, Conroy, JM, Coutanche M, Cook EH, Tiago Magalhaes, Pagnamenta, Alistair T, Duque F, Patrick F. Bolton, Shah, N., Parr, J.R., Eftichia Duketis, Nygren, G., Zwaigenbaum L, Le Couteur, A, Hus V, Wallace, S., Miller, Judith, Abrahams, Brett S, Pinto D, Pinto, D, Maestrini, E., Ragoussis, J, Wang, Kai, Michael Gill, Regan, R., Parr, Jeremy R, Minopoli, F, Sean Ennis, Almeida, J, Conroy, Judith, Vieland, Veronica J., Conroy, J.M., John Tsiantis, Haines JL, Nuala Sykes, Scherer SW, Delorme, R., Richard Holt, Mcdougle, Christopher J, Oliveira, Guiomar, Freitag, CM, Shah, N, Lund, S.C., Marc Coutanche, Merikangas, Alison, Scherer, S.W., Michael L. Rutter, Battaglia, Agatino, Geschwind DH, Monaco AP, Gill, Gillian, Vorstman, Jacob A S, Judith M. Conroy, Susanne Thomson, Farrar, Penny, Bailey, AJ, Hughes, Gillian, Wing K, Volkmar, Fred, Betancur, C., Tsiantis J, Thomson, S., Bolton PF, Vorstman, JA, Casey, Jillian, Carine Mantoulan, Shields, DC, Le Couteur A, Naisha Shah, Wittemeyer, Kerstin, Miller, J. +694 morecore +1 more source
