PMC Articles for MedGen (Select 863179) - PMC

Select item 93026161.

Heteropolymetallic Architectures as Snapshots of Transmetallation Processes at Different Degrees of Transfer

David Campillo, Dr. Daniel Escudero, Dr. Miguel Baya, Dr. Antonio Martín

Chemistry. 2022 Feb 1; 28(7): e202104538. Published online 2022 Jan 19. doi: 10.1002/chem.202104538

PMCID:: PMC9302616

Select item 78985912.

Preparation of Complexes Bearing N‐Alkylated, Anionic or Protic CAACs Through Oxidative Addition of 2‐Halogenoindole Derivatives

Sebastian Termühlen, Dr. Jonas Blumenberg, Dr. Alexander Hepp, Dr. Constantin G. Daniliuc, Prof. Dr. F. Ekkehardt Hahn

Angew Chem Int Ed Engl. 2021 Feb 1; 60(5): 2599–2602. Published online 2020 Nov 30. doi: 10.1002/anie.202010988

PMCID:: PMC7898591

Abstract Article PDF–613K

Select item 66415083.

PPh₃ Propeller Diastereomers: Bonding Motif Ph_PPh₃ Face-On π-Ar in Half-Sandwich Compounds [(π-Ar)LL′MPPh₃]

Henri Brunner, Gábor Balázs, Takashi Tsuno, Haruka Iwabe

ACS Omega. 2018 Jan 31; 3(1): 982–990. Published online 2018 Jan 25. doi: 10.1021/acsomega.7b01460

PMCID:: PMC6641508

Abstract Article PDF–2.0M

Select item 87255754.

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 83676295.

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes

S.K. Goergen, E. Alibrahim, J. Christie, A. Dobrotwir, M. Fahey, L. Fender, K. Frawley, S.A. Manikkam, J.R. Pinner, S. Sinnott, R. Romaniello, S.A. Sandaradura, J. Taylor, A. Vasudevan, A. Righini

AJNR Am J Neuroradiol. 2021 Aug; 42(8): 1528–1534. doi: 10.3174/ajnr.A7131

PMCID:: PMC8367629

Abstract Article PDF–1.9M

Select item 81768856.

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 65655547.

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D’Amico, Nicola Brunetti‐Pierri

Mol Genet Genomic Med. 2019 Jun; 7(6): e708. Published online 2019 May 6. doi: 10.1002/mgg3.708

PMCID:: PMC6565554

Abstract Article PDF–465K

Select item 49892188.

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 46727249.

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 400493310.

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 340881311.

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

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