檢索結果 - Dianne Gerrelli

Refine Results
  1. 1
    Enabling research with human embryonic and fetal tissue resources

    Enabling research with human embryonic and fetal tissue resources 由 Dianne Gerrelli, Steven Lisgo, Andrew J. Copp, Susan Lindsay

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

    FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder 由 Cecilia Lai, Dianne Gerrelli, Anthony P. Monaco, Simon E. Fisher, Andrew J. Copp

    出版 2003
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects

    Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects 由 Nicholas D. E. Greene, Dianne Gerrelli, H. W. M. van Straaten, Andrew J. Copp

    出版 1998
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

    Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling 由 Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C. Achermann

    出版 2011
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure

    Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure 由 Patricia Ybot‐González, Dawn Savery, Dianne Gerrelli, Massimo Signore, C. MITCHELL, Clare Faux, Nicholas D. E. Greene, Andrew J. Copp

    出版 2007
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    A genomic atlas of human adrenal and gonad development

    A genomic atlas of human adrenal and gonad development 由 Ignacio del Valle, Federica Buonocore, Andrew Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Michael Hubank, Dianne Gerrelli, John C. Achermann

    出版 2017
    獲取全文 獲取全文
    Pré-impressão
    加到收藏夾
    Saved in:
  7. 7
    Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

    Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss 由 A Rajab, Daniel Kelberman, Sandra C. de Castro, Heike Biebermann, Hiba Arshad Shaikh, Karma Pearce, C. M. Hall, Guftar Shaikh, Dianne Gerrelli, Annette Grueters, Heiko Krude, Mehul Dattani

    出版 2008
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

    HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development 由 Susan Lindsay, Yaobo Xu, Steven Lisgo, Lauren F. Harkin, Andrew J. Copp, Dianne Gerrelli, Gavin J. Clowry, Aysha Talbot, Michael J. Keogh, Jonathan Coxhead, Mauro Santibanez‐Koref, Patrick F. Chinnery

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

    Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis 由 Sek‐Shir Cheong, Lisa Hentschel, Alice E. Davidson, Dianne Gerrelli, Rebecca Davie, Roberta Rizzo, Nikolas Pontikos, Vincent Plagnol, Anthony T. Moore, Jane C. Sowden, Michel Michaelides, Martin P. Snead, Stephen J. Tuft, Alison J. Hardcastle

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators 由 Gaia Gestri, Robert J. Osborne, Alexander W. Wyatt, Dianne Gerrelli, Susan Gribble, Helen Stewart, Alan Fryer, David J. Bunyan, Katrina Prescott, J. R. O. Collin, Tomas Fitzgerald, David Robinson, Nigel P. Carter, Stephen W. Wilson, Nicola Ragge

    出版 2009
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

    The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation 由 Helen R. Dawe, Ursula M. Smith, Andrew R. Cullinane, Dianne Gerrelli, P. Cox, José L. Badano, Sarah Blair-Reid, Nisha Sriram, Nicholas Katsanis, Tania Attié‐Bitach, Simon C. Afford, Andrew J. Copp, Déirdre Kelly, Keith Gull, Colin A. Johnson

    出版 2006
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    Novel<i>FGF8</i>Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

    Novel<i>FGF8</i>Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction 由 Mark J. McCabe, Carles Gaston‐Massuet, Vaitsa Tziaferi, Louise Gregory, Kyriaki S. Alatzoglou, Massimo Signore, Eduardo Puelles, Dianne Gerrelli, I. Sadaf Farooqi, Jamal Raza, Joanna Walker, Scott I. Kavanaugh, Pei‐San Tsai, Nelly Pitteloud, Juan Pedro Martı́nez-Barberá, Mehul Dattani

    出版 2011
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  13. 13
    Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

    Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability 由 A. T. Pagnamenta, Hamza Khan, Susan Walker, Dianne Gerrelli, Kirsty Wing, María Clara Bonaglia, Roberto Giorda, T. P. Berney, Elisa Mani, Massimo Molteni, Dalila Pinto, Ann Le Couteur, Joachim Hallmayer, James S. Sutcliffe, Peter Szatmari, Andrew D. Paterson, Stephen W. Scherer, Veronica J. Vieland, Anthony P. Monaco

    出版 2010
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene 由 Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa Lees, Meenakshi Bhat, Peter Hammond, Raoul C. M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David H. Johnson, Alexis Robinson, Peter Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie

    出版 2009
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

    SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development 由 Daniel Kelberman, Sandra C. de Castro, Shuwen Huang, John A. Crolla, Rodger Palmer, John W. Gregory, David Taylor, Luciano Cavallo, Maria Felicia Faienza, Rita Fischetto, John C. Achermann, Juan Pedro Martı́nez-Barberá, Karine Rizzoti, Robin Lovell‐Badge, Iain C. A. F. Robinson, Dianne Gerrelli, Mehul Dattani

    出版 2008
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

    Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways 由 Preeti Bakrania, Maria Efthymiou, Johannes Klein, Alison Salt, David J. Bunyan, Alex Wyatt, Chris P. Ponting, Angela Martin, Steven E. Williams, Victoria Lindley, Joanne Gilmore, Marie Restori, Anthony G. Robson, M. Neveu, Graham E. Holder, J. R. O. Collin, David Robinson, Peter Farndon, Heidi Johansen‐Berg, Dianne Gerrelli, Nicola Ragge

    出版 2008
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

    Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum 由 Parthiv Haldipur, Kimberly A. Aldinger, Silvia Bernardo, Mei Deng, Andrew E. Timms, Lynne M. Overman, Conrad Winter, Steven Lisgo, Razavi, Evelina Silvestri, Lucia Manganaro, Homa Adle‐Biassette, Fabien Guimiot, Rosa Russo, Debora Kidron, Patrick R. Hof, Dianne Gerrelli, Susan Lindsay, William B. Dobyns, Ian Glass, Paula Alexandre, Kathleen J. Millen

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

    Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations 由 Nicola Ragge, Alison G. M. Brown, Charlotte M. Poloschek, Birgit Lorenz, Richard A. Henderson, Michael W. Clarke, Isabelle Russell‐Eggitt, Alistair R. Fielder, Dianne Gerrelli, Juan Pedro Martı́nez-Barberá, Piers Ruddle, Jane A. Hurst, J. R. O. Collin, Alison Salt, Simon Timothy Cooper, Pamela J. Thompson, Sanjay M. Sisodiya, Kathleen A. Williamson, David Fitzpatrick, Veronica van Heyningen, Isabel M. Hanson

    出版 2005
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  19. 19
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies 由 Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    出版 2019
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  20. 20
    Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome

    Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome 由 Gilad D. Evrony, Dwight R. Cordero, Jun Shen, Jennifer N. Partlow, Timothy W. Yu, Rachel E. Rodin, Robert Hill, Michael E. Coulter, Anh-Thu N. Lam, Divya Jayaraman, Dianne Gerrelli, Diana Gold Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, Marie-Jocelyne Martel, Betty Anne Spooner, Steven C. Ryu, Princess C. Elhosary, Jillian M. Richardson, Danielle Tierney, Christopher A. Robinson, Rajni Chibbar, Dana Diudea, Rebecca D. Folkerth, Sheldon Wiebe, A. James Barkovich, Ganeshwaran H. Mochida, James Irvine, Edmond G. Lemire, Patricia M. Blakley, Christopher A. Walsh

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: