PMC Links for Books (Select 4489796) - PMC

Select item 48620681.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst, Lucy Jenkins, Manju A Kurian, Richard H Scott

J Med Genet. 2016 May; 53(5): 310–317. Published online 2016 Mar 18. doi: 10.1136/jmedgenet-2015-103263

PMCID:: PMC4862068

Article PDF–443K

Select item 46134822.

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl-Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Riess, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Riess, Peter Bauer

Eur J Hum Genet. 2015 Oct; 23(11): 1513–1518. Published online 2015 Feb 4. doi: 10.1038/ejhg.2015.5

PMCID:: PMC4613482

Article PDF–274K

Select item 43047963.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow

Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 581–593. Published online 2014 Sep 19. doi: 10.1002/ana.24225

PMCID:: PMC4304796

Article PDF–1.2M

Select item 38309554.

Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development

Qing Ouyang, Sofia B. Lizarraga, Michael Schmidt, Unikora Yang, Jingyi Gong, Debra Ellisor, Julie A. Kauer, Eric M. Morrow

Neuron. Author manuscript; available in PMC 2014 Oct 2.

Published in final edited form as: Neuron. 2013 Oct 2; 80(1): 10.1016/j.neuron.2013.07.043. Published online 2013 Sep 12. doi: 10.1016/j.neuron.2013.07.043

PMCID:: PMC3830955

Article PDF–3.5M

Select item 36985585.

Natural History of Christianson Syndrome

Richard J. Schroer, Kenton R. Holden, Patrick S. Tarpey, Maria Giselle Matheus, David A. Griesemer, Michael J. Friez, Jane Zheng Fan, Richard J. Simensen, Petter Strømme, Roger E. Stevenson, Michael R. Stratton, Charles E. Schwartz

Am J Med Genet A. Author manuscript; available in PMC 2013 Jul 2.

Published in final edited form as: Am J Med Genet A. 2010 Nov; 0(11): 2775–2783. doi: 10.1002/ajmg.a.33093

PMCID:: PMC3698558

Article PDF–1.5M

Select item 29866876.

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

Yann Fichou, Nadia Bahi-Buisson, Juliette Nectoux, Jamel Chelly, Delphine Héron, Laurence Cuisset, Thierry Bienvenu

Eur J Hum Genet. 2009 Nov; 17(11): 1378–1380. Published online 2009 May 27. doi: 10.1038/ejhg.2009.82

PMCID:: PMC2986687

Article PDF–62K

Select item 28720077.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O'Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matt Blow, Chris Greenman, Yali Xue, Chris Tyler-Smith, Deborah Thompson, Kristian Gray, Jenny Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, Rachel Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon Teague, Adam Butler, Andrew Jenkinson, Mingming Jia, David Richardson, Rebecca Shepherd, Richard Wooster, M Isabel Tejada, Francisco Martinez, Gemma Carvill, Rene Goliath, Arjan P M de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans-Hilger Ropers, Fatima E Abidi, Anand K Srivastava, James Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John L Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F Easton, Jackie Boyle, Michael Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E Stevenson, Martin Bobrow, Gillian Turner, Charles E Schwartz, Jozef Gecz, F Lucy Raymond, P Andrew Futreal, Michael R Stratton

Nat Genet. Author manuscript; available in PMC 2010 May 18.

Published in final edited form as: Nat Genet. 2009 May; 41(5): 535–543. Published online 2009 Apr 19. doi: 10.1038/ng.367

PMCID:: PMC2872007

Article PDF–546K

Select item 28591548.

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

James Y. Garbern, Manuela Neumann, John Q. Trojanowski, Virginia M.-Y. Lee, Gerald Feldman, Joy W. Norris, Michael J. Friez, Charles E. Schwartz, Roger Stevenson, Anders A. F. Sima

Brain. 2010 May; 133(5): 1391–1402. Published online 2010 Apr 15. doi: 10.1093/brain/awq071

PMCID:: PMC2859154

Article PDF–707K

Select item 24272079.

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Gregor D. Gilfillan, Kaja K. Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjøholm, Andres Server, Lena Samuelsson, Arnold Christianson, Patrick Tarpey, Annabel Whibley, Michael R. Stratton, P. Andrew Futreal, Jon Teague, Sarah Edkins, Jozef Gecz, Gillian Turner, F. Lucy Raymond, Charles Schwartz, Roger E. Stevenson, Dag E. Undlien, Petter Strømme

Am J Hum Genet. 2008 Apr 11; 82(4): 1003–1010. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.013

PMCID:: PMC2427207

Article PDF–801K

Select item 173423610.

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

A. Christianson, R. Stevenson, C H van der Meyden, J. Pelser, F. Theron, P. L van Rensburg, M. Chandler, C. Schwartz

J Med Genet. 1999 Oct; 36(10): 759–766. doi: 10.1136/jmg.36.10.759

PMCID:: PMC1734236

Summary PDF–176K

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