Results 51 to 60 of about 237,429 (310)

Understanding chromosome disorders and their implications for special educators [PDF]

, 2014
More children are now being diagnosed with chromosome abnormalities. Some chromosome disorder syndromes are relatively well known; while others are so rare that there is only limited evidence about their likely impact on learning and development.
Gilmore, Linda
core  

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Chromosomal abnormalities and mental disorders [PDF]

Postgraduate Medical Journal, 1972
THE almost constant concomitance of severe intellectual impairment with autosomal chromosome imbalance is well known. Mental defect is a more variable manifestation in the presence of sex chromosome anomalies. In both categories, however, the impairment of cognitive function has been the centre ofmuch attention.
openaire   +2 more sources

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

Supporting families of children with rare and unique chromosome disorders [PDF]

, 2017
The aim of this research was to investigate the experiences of families whose child was diagnosed with a rare, and apparently unique, chromosome disorder.
Gilmore, Linda, Linda Gilmore
core   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Acquired abnormalities of chromosome 21 in acute lymphoblastic leukaemia [PDF]

, 2008
The intrachromosomal amplification of chromosome 21 (iAMP21) was identifiedas a novel and prognositically important acquired chromosomal abnormality inchildhood acute lymphoblastic leukaemia (ALL).
Robinson, Hazel M., Robinson, Hazel M
core  

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of Autism spectrum disorders [PDF]

, 2012
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at ...
Assouline B., Gillberg I. C., Gillberg, C, Gillberg, I Carina, Gillberg, I.C., Mouren, M., Mouren, M-, Sequeira Ana F., Boeckers, TM, Konyukh, Marina, Chaste, P., Bolton, P, Kantojarvi, K, Kopp Marnie, Bourgeron Thomas, Konyukh Marina, Oriane Mercati, Lathrop, Mark, Leboyer, Marion, Delorme Richard, Anthony P. Monaco (184852), Råstam, Maria,, Freitag, C.M., Rastam Maria, Järvelä I., Pinto, D., Fauchereau, F., Curran Sarah, Leblond, C.S., Chiocchetti, A., Vicente, Astrid, Waltes, R., Collier, David A, Roberto Toro, Bourgeron, T, Bacchelli E., Martin Poot (184849), Poustka, F., Nygren Gudrun, Järvelä, Irma, Vanhala R., Elena Maestrini (184907), Vicente, Astrid M., Henrik Anckarsäter (184814), Järvelä Irma, Barbara Oliveira, Agatino Battaglia, Klauck S. M., Diana Zelenika (69803), Delorme, R, Marie-Christine Mouren (184946), Scherer Stephen W., Mouren Marie-Christine, Gillberg, IC, Holt Richard, Waltes R., Christian Proepper (184780), Fauchereau, Fabien, Duketis E., Fritz Poustka (184874), Oriane Mercati (184839), Klauck, Sabine M., Scherer, SW, Fauchereau Fabien, Vanhala, R, Ruta L., Collier, DA, Klauck, Sabine M, Lemière N., Oliveira, B, Mazzone, L, Oliveira, G, Mercati, O., Sequeira, Ana, F., Catalina Betancur, Marnie Kopp, Battaglia Agatino, Marion Leboyer, Boeckers, Tobias M, Skuse David, Scherer, Stephen W, Mouren M. C., Poot, Martin, Huguet, Guillaume, Mouren, M.C., Marina Konyukh, Andreas Chiocchetti (184869), Anthony P Monaco, Dominique Bonneau, Bonneau, D, Regnault, Beatrice, Leblond, Claire S., Fauchereau F., Ruta, L, Chaste, Pauline, Gillberg, Christopher, Irma Järvelä, Luigi Mazzone, Mark Lathrop, Mouren, Marie-Christine, Pinto D., Melke, Jonas,, Holt, Richard, Pauline Chaste, Guillaume Huguet (184797), Vincent Guinchat, Boeckers, Tobias, M., Guinchat Vincent, Lemière, Nathalie, Brigitte Assouline, Bolton, P., Zelenika Diana, Mazzone L., Kantojärvi Katri, Christine M. Freitag (184876), Claire S. Leblond (184759), Leblond, CS, Dominique Bonneau (144939), Raija Vanhala (184859), Oliveira G., Richard Delorme (184774), Huguet G., Raija Vanhala, Mazzone Luigi, Liliana Ruta, Anckarsäter, Henrik,, Astrid Vicente (184919), Gillberg I. Carina, Bourgeron, Thomas, Anckarsäter, H., Gudrun Nygren (184819), Bacchelli, Elena, Skuse, D., Bacchelli, E, Klauck Sabine M., Bolton Patrick, Chiocchetti A., Boeckers Tobias M., Scherer, Stephen W., Freitag, Christine,, Leblond, Claire, S., Nygren, Gudrun, Delepine Marc, Betancur, C, Leboyer M., Collier, David,, Lemière, N., Poot, M, Lund University., Leblond Claire S., Monaco, Anthony P., Gillberg, C., Poot Martin, Oliveira Barbara, Pauline Chaste (184806), Barbara Oliveira (184915), Boeckers, Tobias M., Devillard F., Chaste Pauline, Delorme R., Mouren M. -C., Melke, J., Maestrini E., Jonas Melke, Curran, S, Bonneau, Dominique, Poot M., Lemière Nathalie, Bourgeron T., Freitag Christine M., Marnie Kopp (184880), Lathrop Mark, Maestrini, Elena, Devillard, F., Mazzone, L., Assouline Brigitte, Böckers, Tobias M., Guillaume Huguet, Anckarsater, H, Oliveira B., Marie-Christine Mouren, Beatrice Regnault (5649310), Poustka Fritz, Guinchat V., Curran S., Collier, David A., Minopoli, F., Anckarsäter Henrik, Thomas Bourgeron (102497), Vanhala, Raija, Dalila Pinto (184925), David Skuse (184848), Sabine M. Klauck (184871), Delepine, Marc, Vicente, A, Nygren, Gudrun,, Collier David A., Toro Roberto, Curran, Sarah, Vanhala, R., Boeckers, Tobias,, Sequeira, AF, Ey, Elodie, Devillard, F, Collier, David, A., Sarah Curran, Brigitte Assouline (184942), Betancur C., Duketis, E, Freitag, Christine M., Oliveira Guiomar, Battaglia, A., Freitag, Christine, M., Pinto Dalila, Delorme, Richard, Stephen W Scherer, Gillberg, Christopher,, Pinto, Dalila, Chiocchetti Andreas, I. Carina Gillberg (184823), Elena Maestrini, Freitag, Christine M, Chaste P| Ey E., Henrik Anckarsäter, Guinchat, V., Bonneau, D., Battaglia, A, Kantojärvi, K., Vincent Guinchat (184933), Waltes, Regina, Jarvela, I, Holt, R., Skuse, David, Marc Delepine, Françoise Devillard, Ana F Sequeira, Rastam M., Elena Bacchelli (184887), Betancur Catalina, Tobias M Boeckers, Minopoli Fiorella, Poot, M., Mouren, M-C, Gillberg Christopher, Sequeira, Ana F., Klauck, SM, Proepper, C, Proepper, C., Jonas Melke (184828), Fiorella Minopoli (184890), Toro R., David A. Collier (184865), Leboyer, M., Devillard, Françoise, Mercati, O, Kopp, M., Melke, Jonas, Gillberg I.C., Zelenika D., Duketis Eftichia, Monaco Anthony P., Fabien Fauchereau (184835), Heinrich, J., Jutta Heinrich (184766), Delepine, M, Boeckers, T.M., Holt, R, Patrick Bolton (184868), Vanhala Raija, Fiorella Minopoli, Andreas Chiocchetti, Bacchelli, E., Monaco, A.P., Guiomar Oliveira, Christopher Gillberg, Proepper, Christian, Nygren G., Poustka, F, Skuse D., Bolton, Patrick F., Melke Jonas, Nygren, G, Guinchat, Vincent, Maestrini, E, Skuse, D, Collier D. A., Lathrop, M, Elodie Ey (184809), Kantojärvi K., Bourgeron, T., Gillberg, I. Carina, Delepine, M., Huguet, G., Agatino Battaglia (184898), Ruta, Liliana, Rastam, M., Zelenika, D, Sequeira, Ana,, Richard Holt (184851), Mercati, Oriane, Liliana Ruta (111348), Konyukh M., Klauck, S.M., Maestrini Elena, Duketis, Eftichia, Monaco, AP, Luigi Mazzone (184903), Leblond, Claire S, Scherer, Stephen,, Leblond, Claire,, Oliveira, Barbara, Guiomar Oliveira (184923), Thomas Bourgeron, Holt R., Astrid Vicente, Ana F. Sequeira (184911), Leboyer Marion, Toro, R., Leboyer, M, Heinrich, J, Mercati O., Vicente A., Heinrich J., Lathrop M., Regnault, B, Duketis, E., Waltes Regina, Kantojärvi, Katri, Lemiere, N, Maria Rastam (184811), Christine M Freitag, Konyukh, M, Regnault Beatrice, State, M., Oliveira, B., Christopher Gillberg (184954), Katri Kantojärvi (184856), Rastam, Maria, Stephen W. Scherer (137813), Sequeira A. F., Poustka F., Fauchereau, F, Assouline, B, Scherer S. W., I Carina Gillberg, Irma Järvelä (184854), Konyukh, M., Scherer, Stephen, W., Elena Bacchelli, Fritz Poustka, Sequeira, Ana F, Collier, D.A., Sequeira, A.F., Battaglia A., Elodie Ey, Richard Delorme, Toro, R, Assouline, B., Bolton, Patrick, Guinchat, V, Françoise Devillard (184938), Gillberg C., Nathalie Lemière, Järvelä, I., Jutta Heinrich, Leblond C. S., Mazzone, Luigi, Proepper Christian, Lathrop, M., Eftichia Duketis (184883), Bacchelli Elena, Betancur, Catalina, Freitag C. M., Chiocchetti, Andreas, Zelenika, Diana, Oliveira, G., Dalila Pinto, Minopoli, Fiorella, Ey Elodie, Vicente Astrid, Ruta, L., Monaco A. P., Waltes, R, Ey E., Minopoli F., Chaste, P, Toro, Roberto, Catalina Betancur (184790), Gudrun Nygren, Regina Waltes (184878), Huguet Guillaume, Sabine M Klauck, Klauck, Sabine, M., Melke, J, Tobias M. Boeckers (184958), Zelenika, D., Anckarsäter H., Proepper C., Kopp, M, Klauck, Sabine,, Marc Delepine (184928), Roberto Toro (184832), Poustka, Fritz, Huguet, G, Martin Poot, Bolton P., Delepine M., Monaco, Anthony P, Vicente, A.M., David Skuse, Bonneau D., Vicente, A., Rastam, M, Beatrice Regnault, Melke J., Kopp M., Ey, E., Heinrich, Jutta, Eftichia Duketis, Nygren, G., Heinrich Jutta, Regnault, B., Kopp, Marnie, Pinto, D, Chaste P., Maestrini, E., Katri Kantojärvi, Bonneau Dominique, Gillberg, I Carina,, Fabien Fauchereau, Mark Lathrop (17971), Minopoli, F, Anckarsäter, Henrik, Devillard Françoise, Marina Konyukh (184802), Nathalie Lemière (184844), Delorme, R., Richard Holt, Assouline, Brigitte, Maria Rastam, Oliveira, Guiomar, Freitag, CM, Regnault B., Curran, S., Christian Proepper, Ruta Liliana, Scherer, S.W., Battaglia, Agatino, Geburtig-Chiocchetti, Andreas, Marion Leboyer (184950), Patrick Bolton, Betancur, C., Regina Waltes, Diana Zelenika, Claire S Leblond, David A Collier, Sarah Curran (184863), Chiocchetti, A, Mercati Oriane, Boeckers T. M., Ey, E   +460 more
core   +1 more source

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

Frontiers in Pediatrics, 2020
Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 region, respectively.
Merlin G. Butler, Jessica Duis
doaj   +1 more source