PMC Articles for MedGen (Select 1684718) - PMC

Select item 92375771.

Splicing Interruption by Intron Variants in CSNK2B Causes Poirier–Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype–Phenotype Correlations

Wen Zhang, Fanghua Ye, Shimeng Chen, Jing Peng, Nan Pang, Fei Yin

Front Neurosci. 2022; 16: 892768. Published online 2022 Jun 14. doi: 10.3389/fnins.2022.892768

PMCID:: PMC9237577

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Select item 91821972.

Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?

Demetra Ballardin, Jose M. Cruz-Gamero, Thierry Bienvenu, Heike Rebholz

Front Mol Biosci. 2022; 9: 850559. Published online 2022 May 26. doi: 10.3389/fmolb.2022.850559

PMCID:: PMC9182197

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Select item 89656973.

De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome

Qi Yang, Qinle Zhang, Shang Yi, Zailong Qin, Fei Shen, Shang Ou, Jingsi Luo, Sheng He

Front Neurol. 2022; 13: 811092. Published online 2022 Mar 16. doi: 10.3389/fneur.2022.811092

PMCID:: PMC8965697

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Select item 99573944.

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo P. d’Adamo, Luciana Musante

Genes (Basel) 2023 Feb; 14(2): 250. Published online 2023 Jan 18. doi: 10.3390/genes14020250

PMCID:: PMC9957394

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Select item 88722045.

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Operto, Grazia Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli

Genes (Basel) 2022 Feb; 13(2): 276. Published online 2022 Jan 30. doi: 10.3390/genes13020276

PMCID:: PMC8872204

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Select item 87289546.

Two different presentations of de novo variants of CSNK2B: two case reports

Matheus V. M. B Wilke, Bibiana M. Oliveira, Alessandra Pereira, Maria Juliana R. Doriqui, Fernando Kok, Carolina F. M. Souza

J Med Case Rep. 2022; 16: 4. Published online 2022 Jan 5. doi: 10.1186/s13256-021-03184-8

PMCID:: PMC8728954

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Select item 100678747.

Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature

Xiaolan Chen, Yunli Han, Xing Li, Shiqin Huang, Hai Yuan, Yuanhan Qin

Front Pediatr. 2023; 11: 967701. Published online 2023 Mar 20. doi: 10.3389/fped.2023.967701

PMCID:: PMC10067874

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Select item 96086498.

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases

Prasida Unni, Jack Friend, Janice Weinberg, Volkan Okur, Jennifer Hochscherf, Isabel Dominguez

Front Mol Biosci. 2022; 9: 851547. Published online 2022 Oct 13. doi: 10.3389/fmolb.2022.851547

PMCID:: PMC9608649

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Select item 90922679.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S. Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Italian Undiagnosed Diseases Network, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C.E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain

HGG Adv. 2022 Jul 14; 3(3): 100111. Published online 2022 Apr 18. doi: 10.1016/j.xhgg.2022.100111

PMCID:: PMC9092267

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