PMC Links for Books (Select 1481052) - PMC

Select item 54372441.

Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A

Sujay S. Ithychanda, Kevin Dou, Stephen P. Robertson, Jun Qin

J Biol Chem. 2017 May 19; 292(20): 8390–8400. Published online 2017 Mar 27. doi: 10.1074/jbc.M117.776740

PMCID:: PMC5437244

Select item 49740642.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Emma M. Wade, Philip B. Daniel, Zandra A. Jenkins, Aideen McInerney-Leo, Paul Leo, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Hans-Christoph Duba, Elaine Fletcher, Chong A. Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, Andrea Superti-Furga, Irma Veenstra-Knol, Dagmar Wieczorek, Louise C. Wilson, Raoul C.M. Hennekam, Andrew J. Sutherland-Smith, Tim M. Strom, Andrew O.M. Wilkie, Matthew A. Brown, Emma L. Duncan, David M. Markie, Stephen P. Robertson

Am J Hum Genet. 2016 Aug 4; 99(2): 392–406. Published online 2016 Jul 15. doi: 10.1016/j.ajhg.2016.05.024

PMCID:: PMC4974064

Abstract Article PDF–1.7M

Select item 36413853.

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García-Miñaúr, Richard J Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder-Espinasse, Richard Scott, Elizabeth M Thompson, Terry Robertson, Brian Coppin, Robert Siegel, Montserrat Bret Zurita, Jose I Rodríguez, Carmen Morales, Yuri Rodrigues, Joaquín Arcas, Anand Saggar, Margaret Horton, Elaine Zackai, John M Graham, David L Rimoin, Stephen P Robertson

Eur J Hum Genet. 2013 May; 21(5): 494–502. Published online 2012 Oct 3. doi: 10.1038/ejhg.2012.209

PMCID:: PMC3641385

Abstract Article PDF–1.6M

Select item 29578474.

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome

C. Foley, K. Roberts, N. Tchrakian, T. Morgan, A. Fryer, S.P. Robertson, N. Tubridy

Mol Syndromol. 2010 Sep; 1(3): 121–126. Published online 2010 Sep 14. doi: 10.1159/000320184

PMCID:: PMC2957847

Abstract Article PDF–231K

Select item 29091105.

Terminal Osseous Dysplasia With Pigmentary Defects (TODPD): Follow-Up of the First Reported Family, Characterization of the Radiological Phenotype, and Refinement of the Linkage Region

Nicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, Suzanne M. Leal, Pasquale Piccolo, Ignatia B. Van den Veyver, Carlos A. Bacino

Am J Med Genet A. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Am J Med Genet A. 2010 Jul; 152A(7): 1825–1831. doi: 10.1002/ajmg.a.33470

PMCID:: PMC2909110

Abstract Article PDF–1018K

Select item 28967686.

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel-Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyurek, Johan T. den Dunnen, Martijn H. Breuning

Am J Hum Genet. 2010 Jul 9; 87(1): 146–153. doi: 10.1016/j.ajhg.2010.06.008

PMCID:: PMC2896768

Abstract Article PDF–689K

Select item 25632487.

Ehlers‐Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

P Gómez‐Garre, M Seijo, E Gutiérrez‐Delicado, M Castro del Río, C de la Torre, C Gómez‐Abad, J Morales‐Corraliza, M Puig, J M Serratosa

J Med Genet. 2006 Mar; 43(3): 232–237. Published online 2005 Jul 1. doi: 10.1136/jmg.2004.029173

PMCID:: PMC2563248

Abstract Article PDF–650K

Select item 21162868.

Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring

J Cell Biol. 1990 Sep 1; 111(3): 1089–1105. doi: 10.1083/jcb.111.3.1089

PMCID:: PMC2116286

Summary PDF–2.9M

Select item 18527179.

Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement

Annagiusi Gargiulo, Renata Auricchio, Maria Vittoria Barone, Gabriella Cotugno, William Reardon, Peter J. Milla, Andrea Ballabio, Alfredo Ciccodicola, Alberto Auricchio

Am J Hum Genet. 2007 Apr; 80(4): 751–758. Published online 2007 Feb 26. doi: 10.1086/513321

PMCID:: PMC1852717

Abstract Article PDF–389K

Select item 118194910.

A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts

Martin Zenker, Anita Rauch, Andreas Winterpacht, Andreas Tagariello, Cornelia Kraus, Thomas Rupprecht, Heinrich Sticht, André Reis

Am J Hum Genet. 2004 Apr; 74(4): 731–737. Published online 2004 Feb 25. doi: 10.1086/383094

PMCID:: PMC1181949

Abstract Article PDF–506K

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