PMC Links for Books (Select 5236018) - PMC

Select item 86399301.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Pasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia ur Rahman, Faisal Zafar, Nuzhat Rana, Fatima Rahman, Najwa Anwar, Shazia Maqbool, Maha S Zaki, Joseph G Gleeson, David Murphy, Hamid Galehdari, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, SYNAPS Study Group, Gaetan Lesca, Nicolas Chatron, Vincenzo Salpietro, Marilena Christoforou, Henry Houlden, William F Simonds, Thierry Pedrazzini, Reza Maroofian, Alexandre Reymond

J Med Genet. 2021 Dec; 58(12): 815–831. Published online 2020 Nov 10. doi: 10.1136/jmedgenet-2020-107015

PMCID:: PMC8639930

Abstract Article PDF–6.3M

Select item 72377232.

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

Francesca L. Sciacca, Claudia Ciaccio, Federica Fontana, Camilla Strano, Francesca Gilardoni, Chiara Pantaleoni, Stefano D’Arrigo

Front Genet. 2020; 11: 399. Published online 2020 May 13. doi: 10.3389/fgene.2020.00399

PMCID:: PMC7237723

Abstract Article PDF–766K

Select item 71389213.

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome

Shahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, Hane Lee, Wayne W. Grody, Stanley F. Nelson, Katrina M. Dipple

Mol Genet Metab Rep. 2020 Jun; 23: 100582. Published online 2020 Apr 6. doi: 10.1016/j.ymgmr.2020.100582

PMCID:: PMC7138921

Abstract Article PDF–403K

Select item 63151454.

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

Natascia Malerba, Shelley Towner, Katherine Keating, Gabriella Maria Squeo, William Wilson, Giuseppe Merla

Front Genet. 2018; 9: 626. Published online 2018 Dec 12. doi: 10.3389/fgene.2018.00626

PMCID:: PMC6315145

Abstract Article PDF–683K

Select item 50376135.

GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

Hanan E. Shamseldin, Ikuo Masuho, Ahmed Alenizi, Suad Alyamani, Dipak N. Patil, Niema Ibrahim, Kirill A. Martemyanov, Fowzan S. Alkuraya

Genome Biol. 2016; 17: 195. Published online 2016 Sep 27. doi: 10.1186/s13059-016-1061-6

PMCID:: PMC5037613

Abstract Article PDF–1.5M

Select item 50106426.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A. Nannenberg, Lamiae Boualla, Nico A. Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep Hande Coban Akdemir, Richard J. Fish, Mohammad K. Eldomery, Ilham Ratbi, Arthur A.M. Wilde, Teun de Boer, William F. Simonds, Marguerite Neerman-Arbez, V. Reid Sutton, Fernando Kok, James R. Lupski, Alexandre Reymond, Connie R. Bezzina, Jeroen Bakkers, Giuseppe Merla

Am J Hum Genet. 2016 Sep 1; 99(3): 704–710. Published online 2016 Aug 11. doi: 10.1016/j.ajhg.2016.06.025

Correction in:: Am J Hum Genet. 2016 Sep 1; 99(3): 786.

PMCID:: PMC5010642

Abstract Article PDF–1.0M

Select item 32603727.

Gβ5-RGS complexes are gatekeepers of hyperactivity involved in control of multiple neurotransmitter systems

Keqiang Xie, Shencheng Ge, Victoria E. Collins, Christy L. Haynes, Kenneth J. Renner, Robert L. Meisel, Rafael Lujan, Kirill A. Martemyanov

Psychopharmacology (Berl) Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Psychopharmacology (Berl). 2012 Feb; 219(3): 823–834. Published online 2011 Jul 16. doi: 10.1007/s00213-011-2409-y

PMCID:: PMC3260372

Abstract Article PDF–900K

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