PMC Links for Books (Select 4341196) - PMC

Select item 87255751.

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

Filomena Pirozzi, Benson Lee, Nicole Horsley, Deepika D. Burkardt, William B. Dobyns, John M. Graham, Jr, Maria L. Dentici, Claudia Cesario, Jens Schallner, Joseph Porrmann, Nataliya Di Donato, Pedro A. Sanchez-Lara, Ghayda M. Mirzaa

Am J Med Genet A. Author manuscript; available in PMC 2022 Jan 4.

Published in final edited form as: Am J Med Genet A. 2021 Sep; 185(9): 2719–2738. Published online 2021 Jun 4. doi: 10.1002/ajmg.a.62362

PMCID:: PMC8725575

Abstract Article PDF–1.3M

Select item 81768852.

PIK3R2/Pik3r2 activating mutations result in brain overgrowth and EEG changes

Xiuyu Shi, Youngshin Lim, Abigail K. Myers, Brenna L. Stallings, Almedia Mccoy, Jordan Zeiger, Joshua Scheck, Ginam Cho, Eric D. Marsh, Ghayda M. Mirzaa, Tao Tao, Jeffrey A. Golden

Ann Neurol. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Ann Neurol. 2020 Dec; 88(6): 1077–1094. Published online 2020 Sep 28. doi: 10.1002/ana.25890

PMCID:: PMC8176885

Abstract Article PDF–1.8M

Select item 70516243.

Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings

H.G. Tore, A.M. McKinney, V.A. Nagar, B. Lohman, C.L. Truwit, C. Raybaud

AJNR Am J Neuroradiol. 2009 Sep; 30(8): 1620–1622. doi: 10.3174/ajnr.A1566

PMCID:: PMC7051624

Abstract Article PDF–466K

Select item 60804234.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Diana Alcantara, Andrew E Timms, Karen Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Cheng, Fiona Stewart, Sarju G Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A Bernstein, Aaron M Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez-Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M Graham Jr., Robert Hevner, William B Dobyns, Mark O’Driscoll, Ghayda M Mirzaa

Brain. 2017 Oct; 140(10): 2610–2622. Published online 2017 Sep 7. doi: 10.1093/brain/awx203

PMCID:: PMC6080423

Abstract Article PDF–907K

Select item 49892185.

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

Gaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, Gerarda Cappuccio, Giuseppina Vitiello, Nicolas Guex, Alessandra D'Amico, A James Barkovich, Nicola Brunetti-Pierri, Ennio Del Giudice, Alexandre Reymond

Eur J Hum Genet. 2016 Aug; 24(9): 1359–1362. Published online 2016 Feb 10. doi: 10.1038/ejhg.2016.7

PMCID:: PMC4989218

Abstract Article PDF–772K

Select item 49793216.

Wide spectrum of developmental brain disorders from megalencephaly to focal cortical dysplasia and pigmentary mosaicism caused by mutations of MTOR

Ghayda M. Mirzaa, Catarina D. Campbell, Nadia Solovieff, Carleton Goold, Laura A. Jansen, Suchithra Menon, Andrew E. Timms, Valerio Conti, Jonathan D. Biag, Carissa Adams, Evan August Boyle, Sarah Collins, Gisele Ishak, Sandra Poliachik, Katta M. Girisha, Kit San Yeung, Brian Hon Yin Chung, Elisa Rahikkala, Sonya A. Gunter, Sharon S. McDaniel, Colleen Forsyth Macmurdo, Jonathan A. Bernstein, Beth Martin, Rebecca Leary, Scott Mahan, Shanming Liu, Molly Weaver, Michael Doerschner, Shalini Jhangiani, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Jay Shendure, Russell P. Saneto, Edward J. Novotny, Christopher J. Wilson, William R. Sellers, Michael Morrissey, Robert F. Hevner, Jeffrey G. Ojemann, Renzo Guerrini, Leon O. Murphy, Wendy Winckler, William B. Dobyns

JAMA Neurol. Author manuscript; available in PMC 2016 Aug 10.

Published in final edited form as: JAMA Neurol. 2016 Jul 1; 73(7): 836–845. doi: 10.1001/jamaneurol.2016.0363

PMCID:: PMC4979321

Abstract Article PDF–1.2M

Select item 46727247.

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi-Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean-François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison Goetsch, Beth Martin, Evan August Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

Lancet Neurol. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Lancet Neurol. 2015 Dec; 14(12): 1182–1195. Published online 2015 Oct 29. doi: 10.1016/S1474-4422(15)00278-1

PMCID:: PMC4672724

Abstract Article PDF–1.2M

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 40049339.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Ghayda Mirzaa, David A Parry, Andrew E Fry, Kristin A Giamanco, Jeremy Schwartzentruber, Megan Vanstone, Clare V Logan, Nicola Roberts, Colin A Johnson, Shawn Singh, Stanislav S Kholmanskikh, Carissa Adams, Rebecca D. Hodge, Robert F. Hevner, David T Bonthron, Kees P.J. Braun, Laurence Faivre, Jean-Baptiste Rivière, Judith St-Onge, Karen W Gripp, Grazia MS Mancini, Ki Pang, Elizabeth Sweeney, Hilde van Esch, Nienke Verbeek, Dagmar Wieczorek, Michelle Steinraths, Jacek Majewski, FORGE Canada Consortium, Kym M Boycot, Daniela T. Pilz, M. Elizabeth Ross, William B. Dobyns, Eamonn G. Sheridan

Nat Genet. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Nat Genet. 2014 May; 46(5): 510–515. Published online 2014 Apr 6. doi: 10.1038/ng.2948

PMCID:: PMC4004933

Article PDF–1.5M

Select item 390895210.

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

William J. Tapper, Nicola Foulds, Nicholas C. P. Cross, Paula Aranaz, Joannah Score, Claire Hidalgo-Curtis, David O. Robinson, Jane Gibson, Sarah Ennis, I. Karen Temple, Andrew Collins

PLoS One. 2014; 9(1): e86940. Published online 2014 Jan 31. doi: 10.1371/journal.pone.0086940

PMCID:: PMC3908952

Abstract Article PDF–620K

Select item 382224911.

Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome

Tara G Zamora, Kari D Roberts

BMJ Case Rep. 2013; 2013: bcr2012007826. Published online 2013 Oct 3. doi: 10.1136/bcr-2012-007826

PMCID:: PMC3822249

Abstract Article PDF–501K

Select item 346055112.

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Princess Christina Elhosary, Rameen Beroukhim, Maria K. Lehtinen, L. Benjamin Hills, Erin L. Heinzen, Anthony Hill, R. Sean Hill, Brenda J. Barry, Blaise F.D. Bourgeois, James J. Riviello, A. James Barkovich, Peter M. Black, Keith L. Ligon, Christopher A. Walsh

Neuron. Author manuscript; available in PMC 2012 Oct 12.

Published in final edited form as: Neuron. 2012 Apr 12; 74(1): 41–48. doi: 10.1016/j.neuron.2012.03.010

PMCID:: PMC3460551

Abstract Article PDF–2.3M

Select item 340881313.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda M. Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St-Onge, Jeremy A. Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas R. Ward, Hailly E. Butler, Nancy A. Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie L. Lauzon, Angela E. Lin, Grazia M. S. Mancini, Wendy S. Meschino, James D. Reggin, Anand K. Saggar, Tally Lerman-Sagie, Gökhan Uyanik, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, FORGE Canada Consortium, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Jr., Kym M. Boycott, William B. Dobyns

Nat Genet. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 934–940. Published online 2012 Jun 24. doi: 10.1038/ng.2331

PMCID:: PMC3408813

Abstract Article PDF–816K

Select item 326092014.

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Sandesh C Sreenath Nagamani, Ayelet Erez, Carolyn Bay, Anjana Pettigrew, Seema R Lalani, Kristin Herman, Brett H Graham, Malgorzata JM Nowaczyk, Monica Proud, William J Craigen, Bobbi Hopkins, Beth Kozel, Katie Plunkett, Patricia Hixson, Pawel Stankiewicz, Ankita Patel, Sau Wai Cheung

Eur J Hum Genet. 2012 Feb; 20(2): 176–179. Published online 2011 Sep 21. doi: 10.1038/ejhg.2011.171

PMCID:: PMC3260920

Abstract Article PDF–236K

Select item 317041315.

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer, Jennifer J. Johnston, Erin M. Finn, Kathryn Peters, Joyce Turner, Jennifer L. Cannons, David Bick, Laurel Blakemore, Catherine Blumhorst, Knut Brockmann, Peter Calder, Natasha Cherman, Matthew A. Deardorff, David B. Everman, Gretchen Golas, Robert M. Greenstein, B. Maya Kato, Kim M. Keppler-Noreuil, Sergei A. Kuznetsov, Richard T. Miyamoto, Kurt Newman, David Ng, Kevin O’Brien, Steven Rothenberg, Douglas J. Schwartzentruber, Virender Singhal, Roberto Tirabosco, Joseph Upton, Shlomo Wientroub, Elaine H. Zackai, Kimberly Hoag, Tracey Whitewood-Neal, Pamela G. Robey, Pamela L. Schwartzberg, Thomas N. Darling, Laura L. Tosi, James C. Mullikin, Leslie G. Biesecker

N Engl J Med. Author manuscript; available in PMC 2012 Feb 18.

Published in final edited form as: N Engl J Med. 2011 Aug 18; 365(7): 611–619. Published online 2011 Jul 27. doi: 10.1056/NEJMoa1104017

PMCID:: PMC3170413

Abstract Article PDF–847K

Select item 290859416.

Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

Annemieke J.M.H. Verkerk, Rachel Schot, Laura van Waterschoot, Hannie Douben, Pino J. Poddighe, Maarten H. Lequin, Linda S. de Vries, Paulien Terhal, Johanne M.D. Hahnemann, Irenaeus F.M. de Coo, Marie-Claire Y. de Wit, Leontien S. Wafelman, Livia Garavelli, William B. Dobyns, Peter J. Van der Spek, Annelies de Klein, Grazia M.S. Mancini

Am J Med Genet A. Author manuscript; available in PMC 2011 Jun 1.

Published in final edited form as: Am J Med Genet A. 2010 Jun; 152A(6): 1488–1497. doi: 10.1002/ajmg.a.33408

PMCID:: PMC2908594

Abstract Article PDF–1.0M

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