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Items: 1 to 20 of 193

1.
Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.
R M Winter, A Garner
J Med Genet. 1981 Aug; 18(4): 314–317. doi: 10.1136/jmg.18.4.314
PMCID:
PMC1048743
SummaryPage BrowsePDF–973K
2.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
Sangmoon Lee, Dillon Y. Chen, Maha S. Zaki, Reza Maroofian, Henry Houlden, Nataliya Di Donato, Dalia Abdin, Heba Morsy, Ghayda M. Mirzaa, William B. Dobyns, Jennifer McEvoy-Venneri, Valentina Stanley, Kiely N. James, Grazia M.S. Mancini, Rachel Schot, Tugba Kalayci, Umut Altunoglu, Ehsan Ghayoor Karimiani, Lauren Brick, Mariya Kozenko, Yalda Jamshidi, M. Chiara Manzini, Mehran Beiraghi Toosi, Joseph G. Gleeson
Am J Hum Genet. 2019 Oct 3; 105(4): 844–853. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.08.013
PMCID:
PMC6817548
AbstractArticlePDF–1.7M
3.
Neuronal migration disorders in humans and in mouse models - an overview
Andrew J. Copp, Brian N. Harding
Epilepsy Res. Author manuscript; available in PMC 2015 Jun 18.
Published in final edited form as: Epilepsy Res. 1999 Sep; 36(0): 133–141. doi: 10.1016/s0920-1211(99)00047-9
PMCID:
PMC4471133
AbstractArticlePDF–272K
4.
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs
Valentín Pérez, Aroa Suárez-Vega, Miguel Fuertes, Julio Benavides, Laetitia Delgado, M Carmen Ferreras, Juan José Arranz
BMC Vet Res. 2013; 9: 156. Published online 2013 Aug 9. doi: 10.1186/1746-6148-9-156
PMCID:
PMC3750509
AbstractArticlePDF–2.6M
5.
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
AbstractArticlePDF–1.8M
6.
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
AbstractArticlePDF–972K
7.
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
Sandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet-Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clemenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bole-Feysot, Jean-Pierre Bernard, Laurence Loeuillet, Marie Gonzales, Koryna Socha, Bernard Grandchamp, Tania Attié-Bitach, Férechté Encha-Razavi, Nathalie Seta
Am J Hum Genet. 2012 Dec 7; 91(6): 1135–1143. doi: 10.1016/j.ajhg.2012.10.009
PMCID:
PMC3516603
AbstractArticlePDF–375K
8.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
Tadahiro Mitani, Jaya Punetha, Ibrahim Akalin, Davut Pehlivan, Mateusz Dawidziuk, Zeynep Coban Akdemir, Sarenur Yilmaz, Ezgi Aslan, Jill V. Hunter, Hadia Hijazi, Christopher M. Grochowski, Shalini N. Jhangiani, Ender Karaca, Jawid M. Fatih, Piotr Iwanowski, Tomasz Gambin, Pawel Wlasienko, Alicja Goszczanska-Ciuchta, Monika Bekiesinska-Figatowska, Masoumeh Hosseini, Sanaz Arzhangi, Hossein Najmabadi, Jill A. Rosenfeld, Haowei Du, Dana Marafi, Susan Blaser, Ronni Teitelbaum, Rachel Silver, Baylor-Hopkins Center for Mendelian Genomics, Jennifer E. Posey, Hans-Hilger Ropers, Richard A. Gibbs, Wojciech Wiszniewski, James R. Lupski, David Chitayat, Kimia Kahrizi, Pawel Gawlinski
Am J Hum Genet. 2019 Nov 7; 105(5): 1005–1015. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.017
PMCID:
PMC6848995
AbstractArticlePDF–2.3M
9.
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
AbstractArticlePDF–1.5M
10.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
Reham Khalaf-Nazzal, James Fasham, Katherine A. Inskeep, Lauren E. Blizzard, Joseph S. Leslie, Matthew N. Wakeling, Nishanka Ubeyratna, Tadahiro Mitani, Jennifer L. Griffith, Wisam Baker, Fida’ Al-Hijawi, Karen C. Keough, Alper Gezdirici, Loren Pena, Christine G. Spaeth, Peter D. Turnpenny, Joseph R. Walsh, Randall Ray, Amber Neilson, Evguenia Kouranova, Xiaoxia Cui, David T. Curiel, Davut Pehlivan, Zeynep Coban Akdemir, Jennifer E. Posey, James R. Lupski, William B. Dobyns, Rolf W. Stottmann, Andrew H. Crosby, Emma L. Baple
Am J Hum Genet. 2022 Nov 3; 109(11): 2068–2079. Published online 2022 Oct 24. doi: 10.1016/j.ajhg.2022.09.012
PMCID:
PMC9674946
AbstractArticlePDF–2.9M
11.
Lissencephaly with Congenital Hypothyroidism: A Case Report
Shambhu Kumar Sahani, Anil Pathak, Bishal Nepali, Nilshan Rai
JNMA J Nepal Med Assoc. 2022 Nov; 60(255): 978–981. Published online 2022 Nov 30. doi: 10.31729/jnma.7893
PMCID:
PMC9795095
AbstractArticlePDF–574K
12.
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp
Orphanet J Rare Dis. 2019; 14: 38. Published online 2019 Feb 11. doi: 10.1186/s13023-019-1020-x
PMCID:
PMC6371496
AbstractArticlePDF–6.1M
13.
Expanding the clinical spectrum of biallelic ZNF335 variants
Katrien Stouffs, Andrew B. Stergachis, Tim Vanderhasselt, Alice Dica, Sandra Janssens, Laura Vandervore, Alexander Gheldof, Olaf Bodamer, Kathelijn Keymolen, Sara Seneca, Inge Liebaers, Divya Jayaraman, Haley E. Hill, Jennifer N. Partlow, Christopher A. Walsh, Anna C. Jansen
Clin Genet. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Clin Genet. 2018 Aug; 94(2): 246–251. Published online 2018 May 3. doi: 10.1111/cge.13260
PMCID:
PMC6361164
AbstractArticlePDF–1.1M
14.
Midbrain–hindbrain involvement in lissencephalies
Patrice Jissendi-Tchofo, Simay Kara, A James Barkovich
Neurology. 2009 Feb 3; 72(5): 410–418. doi: 10.1212/01.wnl.0000333256.74903.94
PMCID:
PMC2677533
AbstractArticlePDF–605K
15.
A Pachygyria-causing α-Tubulin Mutation Results in Inefficient Cycling with CCT and a Deficient Interaction with TBCB
Guoling Tian, Xiang-Peng Kong, Xavier H. Jaglin, Jamel Chelly, David Keays, Nicholas J. Cowan
Mol Biol Cell. 2008 Mar; 19(3): 1152–1161. doi: 10.1091/mbc.E07-09-0861
PMCID:
PMC2262973
AbstractArticlePDF–841K
16.
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
S A Ledbetter, A Kuwano, W B Dobyns, D H Ledbetter
Am J Hum Genet. 1992 Jan; 50(1): 182–189.
PMCID:
PMC1682541
SummaryPage BrowsePDF–1.5M
17.
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
Gaëlle Friocourt, Pascale Marcorelles, Pascale Saugier-Veber, Marie-Lise Quille, Stephane Marret, Annie Laquerrière
Acta Neuropathol. 2011; 121(2): 149–170. Published online 2010 Nov 3. doi: 10.1007/s00401-010-0768-9
PMCID:
PMC3037170
AbstractArticlePDF–1.7M
18.
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
AbstractArticlePDF–1.0M
19.
Chromosome therapy: Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs)
Taehyun Kim, Marina Bershteyn, Anthony Wynshaw-Boris
Nucleus. 2014 Sep 1; 5(5): 391–395. Published online 2014 Sep 3. doi: 10.4161/nucl.36300
PMCID:
PMC4164482
AbstractArticlePDF–1.7M
20.
Increased LIS1 expression affects human and mouse brain development
Weimin Bi, Tamar Sapir, Oleg A Shchelochkov, Feng Zhang, Marjorie A Withers, Jill V Hunter, Talia Levy, Vera Shinder, Daniel A Peiffer, Kevin L Gunderson, Marjan M Nezarati, Vern Ann Shotts, Stephen S Amato, Sarah K Savage, David J Harris, Debra-Lynn Day-Salvatore, Michele Horner, Xin-Yan Lu, Trilochan Sahoo, Yuchio Yanagawa, Arthur L Beaudet, Sau Wai Cheung, Salvador Martinez, James R Lupski, Orly Reiner
Nat Genet. Author manuscript; available in PMC 2015 Apr 14.
Published in final edited form as: Nat Genet. 2009 Feb; 41(2): 168–177. Published online 2009 Jan 11. doi: 10.1038/ng.302
PMCID:
PMC4396744
AbstractArticlePDF–1.2M

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