PMC Links for Books (Select 1471412) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 56809352.

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease

David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray

Child Neurol Open. 2017 Jan-Dec; 4: 2329048X17738625. Published online 2017 Nov 7. doi: 10.1177/2329048X17738625

PMCID:: PMC5680935

Abstract Article PDF–269K

Select item 56171833.

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Dolores González-Morón, Sebastián Vishnopolska, Damián Consalvo, Nancy Medina, Marcelo Marti, Marta Córdoba, Cecilia Vazquez-Dusefante, Santiago Claverie, Sergio Alejandro Rodríguez-Quiroga, Patricia Vega, Walter Silva, Silvia Kochen, Marcelo Andrés Kauffman

PLoS One. 2017; 12(9): e0185103. Published online 2017 Sep 27. doi: 10.1371/journal.pone.0185103

PMCID:: PMC5617183

Abstract Article PDF–3.5M

Select item 55264464.

Lissencephaly: expanded imaging and clinical classification

Nataliya Di Donato, Sara Chiari, Ghayda M. Mirzaa, Kimberly Aldinger, Elena Parrini, Carissa Olds, A. James Barkovich, Renzo Guerrini, William B. Dobyns

Am J Med Genet A. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Am J Med Genet A. 2017 Jun; 173(6): 1473–1488. Published online 2017 Apr 25. doi: 10.1002/ajmg.a.38245

PMCID:: PMC5526446

Abstract Article PDF–1.5M

Select item 52071725.

Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND “OFF-PATHWAY” CELLULAR MECHANISMS

Chan Choo Yap, Laura Digilio, Lloyd McMahon, Matylda Roszkowska, Christopher J. Bott, Kamil Kruczek, Bettina Winckler

J Biol Chem. 2016 Dec 23; 291(52): 26613–26626. Published online 2016 Oct 31. doi: 10.1074/jbc.M116.760777

PMCID:: PMC5207172

Abstract Article PDF–3.6M

Select item 50979456.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Nataliya Di Donato, Ying Y. Jean, A. Murat Maga, Briana D. Krewson, Alison B. Shupp, Maria I. Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A. Willert, Agnieszka M. Czaja, Rachel Johnson, Jessi A. Stover, Steven Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimberly A. Aldinger, Ghayda M. Mirzaa, Anke Nissen, Karlla W. Brigatti, Erik G. Puffenberger, Kathleen J. Millen, Kevin A. Strauss, William B. Dobyns, Carol M. Troy, Robert N. Jinks

Am J Hum Genet. 2016 Nov 3; 99(5): 1117–1129. Published online 2016 Oct 20. doi: 10.1016/j.ajhg.2016.09.010

PMCID:: PMC5097945

Abstract Article PDF–1.3M

Select item 47927647.

Disorders of Microtubule Function in Neurons: Imaging Correlates

C.A. Mutch, A. Poduri, M. Sahin, B. Barry, C.A. Walsh, A.J. Barkovich

AJNR Am J Neuroradiol. 2016 Mar; 37(3): 528–535. doi: 10.3174/ajnr.A4552

PMCID:: PMC4792764

Abstract Article PDF–1.8M

Select item 42749528.

Somatic Mutations in Cerebral Cortical Malformations

Saumya S. Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D'Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Sean Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Sahin, Bernard S. Chang, Michael Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh

N Engl J Med. Author manuscript; available in PMC 2015 Feb 21.

Published in final edited form as: N Engl J Med. 2014 Aug 21; 371(8): 733–743. doi: 10.1056/NEJMoa1314432

PMCID:: PMC4274952

Abstract Article PDF–1.0M

Select item 38262569.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loic Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stephanie Valence, Benjamin SaintPierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Franscesca Darra, Claude Cances, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie N’Guyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschke, Thierry Hieu, Cecile Masson, Diana Zelenika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi-Buisson, Jamel Chelly

Nat Genet. Author manuscript; available in PMC 2013 Nov 13.

Published in final edited form as: Nat Genet. 2013 Jun; 45(6): 10.1038/ng.2613. Published online 2013 Apr 21. doi: 10.1038/ng.2613

Correction in:: volume 45 on page 962

PMCID:: PMC3826256

Abstract Article PDF–2.2M

Select item 356207910.

New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum

Nadia Bahi-Buisson, Isabelle Souville, Franck J. Fourniol, Aurelie Toussaint, Carolyn A. Moores, Anne Houdusse, Jean Yves Lemaitre, Karine Poirier, Reham Khalaf-Nazzal, Marie Hully, Pierre Louis Leger, Caroline Elie, Nathalie Boddaert, Cherif Beldjord, Jamel Chelly, Fiona Francis, SBH-LIS European Consortium

Brain. 2013 Jan; 136(1): 223–244. Published online 2013 Jan 28. doi: 10.1093/brain/aws323

PMCID:: PMC3562079

Abstract Article PDF–972K

Select item 300331411.

Template-free 13-protofilament microtubule–MAP assembly visualized at 8 Å resolution

Franck J. Fourniol, Charles V. Sindelar, Béatrice Amigues, Daniel K. Clare, Geraint Thomas, Mylène Perderiset, Fiona Francis, Anne Houdusse, Carolyn A. Moores

J Cell Biol. 2010 Nov 1; 191(3): 463–470. doi: 10.1083/jcb.201007081

PMCID:: PMC3003314

Abstract Article PDF–2.2M

Select item 298649812.

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

Eden V Haverfield, Amanda J Whited, Kristin S Petras, William B Dobyns, Soma Das

Eur J Hum Genet. 2009 Jul; 17(7): 911–918. Published online 2008 Dec 3. doi: 10.1038/ejhg.2008.213

PMCID:: PMC2986498

Abstract Article PDF–135K

Select item 296761113.

Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies

Anthony Wynshaw-Boris, Tiziano Pramparo, Yong Ha Youn, Shinji Hirotsune

Semin Cell Dev Biol. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Semin Cell Dev Biol. 2010 Oct; 21(8): 823–830. Published online 2010 Aug 3. doi: 10.1016/j.semcdb.2010.07.008

PMCID:: PMC2967611

Abstract Article PDF–130K

Select item 275727014.

Doublecortin Associates with Microtubules Preferentially in Regions of the Axon Displaying Actin-Rich Protrusive Structures

Irina Tint, Daphney Jean, Peter W. Baas, Mark M. Black

J Neurosci. 2009 Sep 2; 29(35): 10995–11010. doi: 10.1523/JNEUROSCI.3399-09.2009

PMCID:: PMC2757270

Abstract Article PDF–5.6M

Select item 159000415.

Distinct roles of doublecortin modulating the microtubule cytoskeleton

Carolyn A Moores, Mylène Perderiset, Caroline Kappeler, Susan Kain, Douglas Drummond, Stephen J Perkins, Jamel Chelly, Rob Cross, Anne Houdusse, Fiona Francis

EMBO J. 2006 Oct 4; 25(19): 4448–4457. Published online 2006 Sep 7. doi: 10.1038/sj.emboj.7601335

PMCID:: PMC1590004

Abstract Article PDF–402K

Select item 155040216.

The evolving doublecortin (DCX) superfamily

Orly Reiner, Frédéric M Coquelle, Bastian Peter, Talia Levy, Anna Kaplan, Tamar Sapir, Irit Orr, Naama Barkai, Gregor Eichele, Sven Bergmann

BMC Genomics. 2006; 7: 188. Published online 2006 Jul 26. doi: 10.1186/1471-2164-7-188

PMCID:: PMC1550402

Abstract Article PDF–2.9M

Select item 128751717.

Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes

Joseph G. Gleeson, Sharon Minnerath, Ruben I. Kuzniecky, William B. Dobyns, Ian D. Young, M. Elizabeth Ross, Christopher A. Walsh

Am J Hum Genet. 2000 Sep; 67(3): 574–581. Published online 2000 Jul 27. doi: 10.1086/303043

PMCID:: PMC1287517

Abstract Article PDF–557K

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