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Select item 106317551.

Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report

Derek Chaves Lopes, Lorenna Sena Teixeira Mendes, Inês Catão Henriques Ferreira

Einstein (Sao Paulo) 2023; 21: eRC0480. Published online 2023 Oct 26. doi: 10.31744/einstein_journal/2023RC0480

PMCID:: PMC10631755

Abstract Article PDF–164K

Select item 95005272.

Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome

Jiexue Pan, Jie Li, Songchang Chen, Chenming Xu, Hefeng Huang, Li Jin

Front Genet. 2022; 13: 989041. Published online 2022 Sep 9. doi: 10.3389/fgene.2022.989041

PMCID:: PMC9500527

Abstract Article PDF–1.3M

Select item 94824033.

Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS

Xilian Zhang, Hanjiang Chen, Ying Song, Zhaoyuan Chen, Xuan Liu, Ping Rong, Rong Ma

Mol Genet Genomic Med. 2022 Sep; 10(9): e2009. Published online 2022 Jul 10. doi: 10.1002/mgg3.2009

PMCID:: PMC9482403

Abstract Article PDF–1.6M

Select item 89229574.

Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides–Baraitser syndrome

Yutaka Shinko, Satoshi Okazaki, Ikuo Otsuka, Tadasu Horai, Saehyeon Kim, Takaki Tanifuji, Akitoyo Hishimoto

Mol Genet Genomic Med. 2022 Mar; 10(3): e1876. Published online 2022 Jan 29. doi: 10.1002/mgg3.1876

PMCID:: PMC8922957

Abstract Article PDF–576K

Select item 81523455.

Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery

Marie Goehring, Suma Choorapoikayil, Kai Zacharowski, Leila Messroghli

BMC Anesthesiol. 2021; 21: 162. Published online 2021 May 26. doi: 10.1186/s12871-021-01380-z

PMCID:: PMC8152345

Abstract Article PDF–460K

Select item 80335866.

Difficult Airway Management in a Patient With Nicolaides-Baraitser Syndrome Who Had a Small Jaw and Limited Mouth Opening

Saori Taharabaru, Takehito Sato, Kimitoshi Nishiwaki

Anesth Prog. 2021 Spring; 68(1): 47–49. Published online 2021 Apr 7. doi: 10.2344/anpr-67-04-05

PMCID:: PMC8033586

Abstract Article PDF–196K

Select item 66176517.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg

BMC Med Genomics. 2019; 12: 105. Published online 2019 Jul 9. doi: 10.1186/s12920-019-0555-y

PMCID:: PMC6617651

Abstract Article PDF–7.0M

Select item 56024898.

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation

Ana Isabel Sánchez, Jorge Armando Rojas

Case Rep Genet. 2017; 2017: 8639617. Published online 2017 Aug 29. doi: 10.1155/2017/8639617

PMCID:: PMC5602489

Abstract Article PDF–1.0M

Select item 55161679.

New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy

S. Tang, E. Hughes, K. Lascelles, EuroEPINOMICS RES myoclonic astatic epilepsy working group, M. A. Simpson, D. K. Pal

Am J Med Genet A. 2017 Jan; 173(1): 195–199. Published online 2016 Sep 26. doi: 10.1002/ajmg.a.37935

PMCID:: PMC5516167

Abstract Article PDF–876K

Select item 483138210.

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

Resham Ejaz, Riyana Babul‐Hirji, David Chitayat

Clin Case Rep. 2016 Apr; 4(4): 351–355. Published online 2016 Feb 28. doi: 10.1002/ccr3.425

PMCID:: PMC4831382

Abstract Article PDF–1.1M

Select item 336222011.

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

D. Wolff, S. Endele, S. Azzarello-Burri, J. Hoyer, M. Zweier, I. Schanze, B. Schmitt, A. Rauch, A. Reis, C. Zweier

Mol Syndromol. 2012 Apr; 2(6): 237–244. Published online 2012 Mar 16. doi: 10.1159/000337323

PMCID:: PMC3362220

Abstract Article PDF–592K

Select item 1112696412.

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Aileen Kenneson, Margite I. Borth, Rani H. Singh

Mol Genet Metab Rep. 2024 Jun; 39: 101092. Published online 2024 May 18. doi: 10.1016/j.ymgmr.2024.101092

PMCID:: PMC11126964

Abstract Article PDF–333K

Select item 1110996913.

Tracking pairwise genomic loci by the ParB–ParS and Noc-NBS systems in living cells

Xiaohui He, Yuxi Tan, Ying Feng, Yadong Sun, Hanhui Ma

Nucleic Acids Res. 2024 May 22; 52(9): 4922–4934. Published online 2024 Feb 27. doi: 10.1093/nar/gkae134

PMCID:: PMC11109969

Abstract Article PDF–1.9M

Select item 1108548614.

A Cluster of Peronospora parasitica 13-like (NBS-LRR) Genes Is Associated with Powdery Mildew (Erysiphe polygoni) Resistance in Mungbean (Vigna radiata)

Pitsanupong Waengwan, Kularb Laosatit, Yun Lin, Tarika Yimram, Xingxing Yuan, Xin Chen, Prakit Somta

Plants (Basel) 2024 May; 13(9): 1230. Published online 2024 Apr 29. doi: 10.3390/plants13091230

PMCID:: PMC11085486

Abstract Article PDF–1.6M

Select item 1103351415.

Genome-wide and pan-genomic analysis reveals rich variants of NBS-LRR genes in a newly developed wild rice line from Oryza alta Swallen

Fimanekeni Ndaitavela Shivute, Yi Zhong, Jinwen Wu, Yueming Bao, Wei Wang, Xiangdong Liu, Zijun Lu, Hang Yu

Front Plant Sci. 2024; 15: 1345708. Published online 2024 Apr 8. doi: 10.3389/fpls.2024.1345708

PMCID:: PMC11033514

Abstract Article PDF–8.6M

Select item 1096129616.

NBS superfood: a promising adjunctive therapy in critically ill ICU patients with omicron variant of COVID-19

Mehrdad Mosadegh, Aref Khalkhali, Yousef Erfani, Manije Nezamdoost, Seyyed Hamid Hashemi, Farid Azizi Jalilian, Nastaran Ansari, Shahab Mahmoudvand, Mojgan Mamani, Elham Abdoli, Razieh Amini, Gholamreza Kalvandi

AMB Express. 2024; 14: 33. Published online 2024 Mar 24. doi: 10.1186/s13568-024-01690-8