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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Select item 1064274812.

Comparative genomics profiling revealed multi-stress responsive roles of the CC-NBS-LRR genes in three mango cultivars

Muhammad Tahir ul Qamar, Muhammad Sadaqat, Xi-Tong Zhu, Huan Li, Xing Huang, Kinza Fatima, Mashal M. Almutairi, Ling-Ling Chen

Front Plant Sci. 2023; 14: 1285547. Published online 2023 Oct 30. doi: 10.3389/fpls.2023.1285547

PMCID:: PMC10642748

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Select item 1062577513.

IR-820@NBs Combined with MG-132 Enhances the Anti-Hepatocellular Carcinoma Effect of Sonodynamic Therapy

Xiaodong Wang, Chunyue Wang, Huimin Tian, Yichi Chen, Bolin Wu, Wen Cheng

Int J Nanomedicine. 2023; 18: 6199–6212. Published online 2023 Nov 1. doi: 10.2147/IJN.S431910

PMCID:: PMC10625775

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Select item 1062237314.

Neugeborenen-Screening aus Trockenblut (NBS) in Deutschland: Status quo und Vorstellung eines Konzeptes zur Weiterentwicklung

Uta Nennstiel, Birgit Odenwald, Veronika Throner, Oliver Blankenstein, Andreas Vieth, Rudolf Ratzel, Michaela Coenen, Inken Brockow

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023; 66(11): 1195–1204. German. Published online 2023 Oct 10. doi: 10.1007/s00103-023-03771-8

PMCID:: PMC10622373

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Select item 1061838915.

The Nepean Belief Scale (NBS) as a tool to investigate the intensity of beliefs in anorexia nervosa: psychometric properties of the Italian version

Arianna Sciarrillo, Francesco Bevione, Marta Lepora, Federica Toppino, Maria Carla Lacidogna, Nadia Delsedime, Matteo Panero, Matteo Martini, Giovanni Abbate Daga, Antonio Preti

Eat Weight Disord. 2023; 28(1): 92. Published online 2023 Oct 31. doi: 10.1007/s40519-023-01620-w

PMCID:: PMC10618389

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Select item 1050099516.

Comparative Electronic Structures of the Chiral Helimagnets Cr_1/3NbS₂ and Cr_1/3TaS₂

Lilia S. Xie, Oscar Gonzalez, Kejun Li, Matteo Michiardi, Sergey Gorovikov, Sae Hee Ryu, Shannon S. Fender, Marta Zonno, Na Hyun Jo, Sergey Zhdanovich, Chris Jozwiak, Aaron Bostwick, Samra Husremović, Matthew P. Erodici, Cameron Mollazadeh, Andrea Damascelli, Eli Rotenberg, Yuan Ping, D. Kwabena Bediako

Chem Mater. 2023 Sep 12; 35(17): 7239–7251. Published online 2023 Aug 16. doi: 10.1021/acs.chemmater.3c01564

PMCID:: PMC10500995

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Select item 1036686117.

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

Birgit Odenwald, Inken Brockow, Marianne Hanauer, Anja Lüders, Uta Nennstiel

Int J Neonatal Screen. 2023 Sep; 9(3): 35. Published online 2023 Jun 22. doi: 10.3390/ijns9030035

PMCID:: PMC10366861

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Select item 1031817018.

Identification, characterization, and validation of NBS-encoding genes in grass pea

Alsamman M. Alsamman, Khaled H. Mousa, Ahmed E. Nassar, Mostafa M. Faheem, Khaled H. Radwan, Monica H. Adly, Ahmed Hussein, Tawffiq Istanbuli, Morad M. Mokhtar, Tamer Ahmed Elakkad, Zakaria Kehel, Aladdin Hamwieh, Mohamed Abdelsattar, Achraf El Allali

Front Genet. 2023; 14: 1187597. Published online 2023 Jun 20. doi: 10.3389/fgene.2023.1187597

PMCID:: PMC10318170

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Select item 1021257019.

Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus

Constance Kleijwegt, Florent Bressac, Coline Seurre, Wilhelm Bouchereau, Camille Cohen, Pascale Texier, Thomas Simonet, Laurent Schaeffer, Patrick Lomonte, Armelle Corpet

eLife. 2023; 12: e80156. Published online 2023 May 25. doi: 10.7554/eLife.80156

PMCID:: PMC10212570

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Select item 1004538120.

Genome-Wide Identification and Expression Analysis of the TIR-NBS-LRR Gene Family and Its Response to Fungal Disease in Rose (Rosa chinensis)

Jurong Song, Feng Chen, Bo Lv, Cong Guo, Jie Yang, Li Huang, Jiaqi Guo, Fayun Xiang

Biology (Basel) 2023 Mar; 12(3): 426. Published online 2023 Mar 10. doi: 10.3390/biology12030426

PMCID:: PMC10045381

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