PMC Articles for MedGen (Select 334413) - PMC

Select item 19508401.

Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway

Ginat Narkis, Rivka Ofir, Daniella Landau, Esther Manor, Micha Volokita, Relly Hershkowitz, Khalil Elbedour, Ohad S. Birk

Am J Hum Genet. 2007 Sep; 81(3): 530–539. Published online 2007 Jul 24. doi: 10.1086/520771

PMCID:: PMC1950840

Abstract Article PDF–490K

Select item 19508272.

Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway

Ginat Narkis, Rivka Ofir, Esther Manor, Daniella Landau, Khalil Elbedour, Ohad S. Birk

Am J Hum Genet. 2007 Sep; 81(3): 589–595. Published online 2007 Jul 24. doi: 10.1086/520770

PMCID:: PMC1950827

Abstract Article PDF–360K

Select item 68000983.

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Alexander Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer Murphy, Miriam Bloom, Sarah H. Evans, Guy Helman, Ryan J. Taft, Cas Simons, Matthew T. Whitehead, Steven A. Moore, Adeline Vanderver

J Child Neurol. Author manuscript; available in PMC 2019 Oct 18.

Published in final edited form as: J Child Neurol. 2018 Sep; 33(10): 642–650. Published online 2018 Jun 8. doi: 10.1177/0883073818776157

PMCID:: PMC6800098

Abstract Article PDF–1.9M

Select item 55629634.

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

David C. Schorling, Simone Rost, Dirk J. Lefeber, Lauren Brady, Clemens R. Müller, Rudolf Korinthenberg, Mark Tarnopolsky, Carsten G. Bönnemann, Richard J. Rodenburg, Marianna Bugiani, Maria Beytia, Marcus Krüger, Marjo van der Knaap, Jan Kirschner

Neurology. 2017 Aug 15; 89(7): 657–664. doi: 10.1212/WNL.0000000000004234

PMCID:: PMC5562963

Abstract Article PDF–694K

Select item 50278035.

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

Eric G. Bend, Yue Si, David A. Stevenson, Pinar Bayrak-Toydemir, Tara M. Newcomb, Erik M. Jorgensen, Kathryn J. Swoboda

Neurology. 2016 Sep 13; 87(11): 1131–1139. doi: 10.1212/WNL.0000000000003095

PMCID:: PMC5027803

Abstract Article PDF–1.0M

Select item 43505886.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Claire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, Amandine Boyer, Thuy Duong Nguyen, Le Thi Thanh Huong, Peter Meinke, Winnie Schröder, Valérie Cormier-Daire, Yves Sznajer, David J Amor, Kristina Lagerstedt, Martine Biervliet, Peter C van den Akker, Pierre Cau, Patrice Roll, Nicolas Lévy, Catherine Badens, Manfred Wehnert, Annachiara De Sandre-Giovannoli

Eur J Hum Genet. 2014 Aug; 22(8): 1002–1011. Published online 2013 Oct 30. doi: 10.1038/ejhg.2013.258

PMCID:: PMC4350588

Abstract Article PDF–1.8M

Select item 43214437.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Hannah M. Kaneb, Andrew W. Folkmann, Véronique V. Belzil, Li-En Jao, Claire S. Leblond, Simon L. Girard, Hussein Daoud, Anne Noreau, Daniel Rochefort, Pascale Hince, Anna Szuto, Annie Levert, Sabrina Vidal, Catherine André-Guimont, William Camu, Jean-Pierre Bouchard, Nicolas Dupré, Guy A. Rouleau, Susan R. Wente, Patrick A. Dion

Hum Mol Genet. 2015 Mar 1; 24(5): 1363–1373. Published online 2014 Oct 24. doi: 10.1093/hmg/ddu545

PMCID:: PMC4321443

Abstract Article PDF–896K

Select item 36582038.

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Olga S Koutsopoulos, Christine Kretz, Claudia M Weller, Aurelien Roux, Halina Mojzisova, Johann Böhm, Catherine Koch, Anne Toussaint, Emilie Heckel, Daphne Stemkens, Simone A J ter Horst, Christelle Thibault, Muriel Koch, Syed Q Mehdi, Emilia K Bijlsma, Jean-Louis Mandel, Julien Vermot, Jocelyn Laporte

Eur J Hum Genet. 2013 Jun; 21(6): 637–642. Published online 2012 Oct 24. doi: 10.1038/ejhg.2012.226

PMCID:: PMC3658203

Abstract Article PDF–1.3M

Select item 28177539.

ENU Mutagenesis Reveals a Novel Phenotype of Reduced Limb Strength in Mice Lacking Fibrillin 2

Gaynor Miller, Monica Neilan, Ruth Chia, Nabeia Gheryani, Natalie Holt, Annabelle Charbit, Sara Wells, Valter Tucci, Zuzanne Lalanne, Paul Denny, Elizabeth M. C. Fisher, Michael Cheeseman, Graham N. Askew, T. Neil Dear

PLoS One. 2010; 5(2): e9137. Published online 2010 Feb 9. doi: 10.1371/journal.pone.0009137

PMCID:: PMC2817753

Abstract Article PDF–642K

Select item 242725510.

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Anne Michalk, Sigmar Stricker, Jutta Becker, Rosemarie Rupps, Tapio Pantzar, Jan Miertus, Giovanni Botta, Valeria G. Naretto, Catrin Janetzki, Nausheen Yaqoob, Claus-Eric Ott, Dominik Seelow, Dagmar Wieczorek, Britta Fiebig, Brunhilde Wirth, Markus Hoopmann, Marisa Walther, Friederike Körber, Markus Blankenburg, Stefan Mundlos, Raoul Heller, Katrin Hoffmann

Am J Hum Genet. 2008 Feb 8; 82(2): 464–476. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.006

PMCID:: PMC2427255

Abstract Article PDF–2.1M

Select item 155949211.

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E. V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher

Am J Hum Genet. 2006 Aug; 79(2): 390–395. Published online 2006 Jun 20. doi: 10.1086/506256

PMCID:: PMC1559492

Abstract Article PDF–1.4M

Select item 155948212.

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Katrin Hoffmann, Juliane S. Müller, Sigmar Stricker, Andre Megarbane, Anna Rajab, Tom H. Lindner, Monika Cohen, Eliane Chouery, Lynn Adaimy, Ismat Ghanem, Valerie Delague, Eugen Boltshauser, Beril Talim, Rita Horvath, Peter N. Robinson, Hanns Lochmüller, Christoph Hübner, Stefan Mundlos

Am J Hum Genet. 2006 Aug; 79(2): 303–312. Published online 2006 Jun 20. doi: 10.1086/506257

PMCID:: PMC1559482

Abstract Article PDF–3.3M

Select item 137730913.

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.

P Mäkelä-Bengs, N Järvinen, K Vuopala, A Suomalainen, J Ignatius, M Sipilä, R Herva, A Palotie, L Peltonen

Am J Hum Genet. 1998 Aug; 63(2): 506–516. doi: 10.1086/301968

PMCID:: PMC1377309

Summary PDF–651K

Select item 268461914.

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Heidi O Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi, Heli Honkala, Satu Kuure, Jonna Tallila, Katri Vuopala, Jaakko Ignatius, Riitta Herva, Leena Peltonen

Nat Genet. Author manuscript; available in PMC 2009 May 20.

Published in final edited form as: Nat Genet. 2008 Feb; 40(2): 155–157. Published online 2008 Jan 20. doi: 10.1038/ng.2007.65

PMCID:: PMC2684619

Abstract Article PDF–640K

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