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Items: 1 to 20 of 346

1.
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
Francois P. Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Gregor Andelfinger, Victoria Siu, Julie Lauzon, Bridget A. Fernandez, Margaret McMillin, Richard H. Scott, Hilary Racher, FORGE Canada Consortium, Jacek Majewski, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Jillian S. Parboosingh
Am J Hum Genet. 2012 May 4; 90(5): 925–933. doi: 10.1016/j.ajhg.2012.04.004
PMCID:
PMC3376638
AbstractArticlePDF–639K
2.
Synchronous bilateral breast cancer in a patient with Nager syndrome
Ryan A. Denu, Mark E. Burkard
Clin Breast Cancer. Author manuscript; available in PMC 2018 Jun 1.
Published in final edited form as: Clin Breast Cancer. 2017 Jun; 17(3): e151–e153. Published online 2017 Jan 5. doi: 10.1016/j.clbc.2016.12.009
PMCID:
PMC5446269
AbstractArticlePDF–345K
3.
SAX-7/L1CAM acts with the adherens junction proteins MAGI-1, HMR-1/Cadherin, and AFD-1/Afadin to promote glial-mediated dendrite extension
Elizabeth R. Cebul, Arthur Marivin, Leland R. Wexler, Paola N. Perrat, Claire Y. Bénard, Mikel Garcia-Marcos, Maxwell G. Heiman
Version 1. bioRxiv. Preprint. 2024 Jan 11. doi: 10.1101/2024.01.11.575259
PMCID:
PMC10802611
AbstractArticlePDF–16M
4.
Acculturative Family Distancing (AFD) and Depression in Chinese American Families
Wei-Chin Hwang, Jeffrey J. Wood, Ken Fujimoto
J Consult Clin Psychol. Author manuscript; available in PMC 2011 Oct 1.
Published in final edited form as: J Consult Clin Psychol. 2010 Oct; 78(5): 655–667. doi: 10.1037/a0020542
PMCID:
PMC2948416
AbstractArticlePDF–203K
5.
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome
Matteo Cassina, Cristina Cerqua, Silvia Rossi, Leonardo Salviati, Alessandro Martini, Maurizio Clementi, Eva Trevisson
Eur J Hum Genet. 2017 Mar; 25(3): 371–375. Published online 2016 Dec 14. doi: 10.1038/ejhg.2016.176
PMCID:
PMC5315512
AbstractArticlePDF–1.2M
6.
Regulation of response properties and operating range of the AFD thermosensory neurons by cGMP signaling
Sara M. Wasserman, Matthew Beverly, Harold W. Bell, Piali Sengupta
Curr Biol. Author manuscript; available in PMC 2012 Mar 8.
Published in final edited form as: Curr Biol. 2011 Mar 8; 21(5): 353–362. doi: 10.1016/j.cub.2011.01.053
PMCID:
PMC3057529
AbstractArticlePDF–1.7M
7.
Fetal Skeletal Dysplasias that Involve the Face: Binder Syndrome and Nager Syndrome
Alina VEDUTA, Simona DUTA, Anca Marina CIOBANU, Radu BOTEZATU, Nicolae GICA, Gheorghe PELTECU, Anca Maria PANAITESCU
Maedica (Bucur) 2021 Mar; 16(1): 140–144. doi: 10.26574/maedica.2020.16.1.140
PMCID:
PMC8224714
AbstractArticlePDF–382K
8.
Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction
Syed Ahamed Raheel, Omar Bashar Kujan, Bassel Tarakji, Dilshad Umar, Salah Ibrahim
J Adv Pharm Technol Res. 2016 Apr-Jun; 7(2): 64–68. doi: 10.4103/2231-4040.179749
PMCID:
PMC4850771
AbstractArticlePDF–1.3M
9.
Identification of the AFD neuron as the site of action of the CREB protein in Caenorhabditis elegans thermotaxis
Yukuo Nishida, Takuma Sugi, Mayu Nonomura, Ikue Mori
EMBO Rep. 2011 Aug; 12(8): 855–862. Published online 2011 Jul 8. doi: 10.1038/embor.2011.120
PMCID:
PMC3147260
AbstractArticlePDF–1.1M
10.
Infodemic in Germany and Brazil: How the AfD and Jair Bolsonaro are Sowing Distrust During the Corona Pandemic
Dinah K. Leschzyk
Z Literaturwiss Linguistik. 2021; 51(3): 477–503. Published online 2021 Aug 9. doi: 10.1007/s41244-021-00210-6
PMCID:
PMC8350913
AbstractArticlePDF–477K
11.
Allele frequency deviation (AFD) as a new prognostic model to predict overall survival in lung adenocarcinoma (LUAD)
Aisha Al-Dherasi, Yuwei Liao, Sultan Al-Mosaib, Rulin Hua, Yichen Wang, Ying Yu, Yu Zhang, Xuehong Zhang, Raeda Jalayta, Haithm Mousa, Abdullah Al-Danakh, Fawze Alnadari, Marwan Almoiliqy, Salem Baldi, Leming Shi, Dekang Lv, Zhiguang Li, Quentin Liu
Cancer Cell Int. 2021; 21: 451. Published online 2021 Aug 26. doi: 10.1186/s12935-021-02127-z
PMCID:
PMC8390239
AbstractArticlePDF–1.2M
12.
Dental Management of a Patient with Nager Acrofacial Dysostosis
R. Bozatlıoğlu, A. P. Münevveroğlu
Case Rep Dent. 2015; 2015: 984732. Published online 2015 Oct 7. doi: 10.1155/2015/984732
PMCID:
PMC4617421
AbstractArticlePDF–1.6M
13.
Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report
Rahaf Ibrahim, Nader Eid
Ann Med Surg (Lond) 2021 Oct; 70: 102896. Published online 2021 Sep 27. doi: 10.1016/j.amsu.2021.102896
PMCID:
PMC8519802
AbstractArticlePDF–2.5M
14.
PKC-2 Phosphorylation of UNC-18 Ser322 in AFD Neurons Regulates Temperature Dependency of Locomotion
Mark R. Edwards, James R. Johnson, Kimberley Rankin, Rosalind E. Jenkins, Carl Maguire, Alan Morgan, Robert D. Burgoyne, Jeff W. Barclay
J Neurosci. 2012 May 16; 32(20): 7042–7051. doi: 10.1523/JNEUROSCI.4029-11.2012
PMCID:
PMC3374327
AbstractArticlePDF–1.0M
15.
Reconstruction of Spatial Thermal Gradient Encoded in Thermosensory Neuron AFD in Caenorhabditis elegans
Yuki Tsukada, Masataka Yamao, Honda Naoki, Tomoyasu Shimowada, Noriyuki Ohnishi, Atsushi Kuhara, Shin Ishii, Ikue Mori
J Neurosci. 2016 Mar 2; 36(9): 2571–2581. doi: 10.1523/JNEUROSCI.2837-15.2016
PMCID:
PMC4879206
AbstractArticlePDF–1.2M
16.
AFD-StackGAN: Automatic Mask Generation Network for Face De-Occlusion Using StackGAN
Abdul Jabbar, Xi Li, Muhammad Assam, Javed Ali Khan, Marwa Obayya, Mimouna Abdullah Alkhonaini, Fahd N. Al-Wesabi, Muhammad Assad
Sensors (Basel) 2022 Mar; 22(5): 1747. Published online 2022 Feb 23. doi: 10.3390/s22051747
PMCID:
PMC8914700
AbstractArticlePDF–47M
17.
A Study of Individualized Diagnosis and Treatment for Depression with Atypical Features (iDoT-AFD): study protocol for a randomized clinical trial and prognosis study
Rubai Zhou, Huifeng Zhang, Shen He, Yi Li, Guiyun Xu, Jinsong Huang, Huaning Wang, Qian Wang, Biao Li, Xuemei Wang, Ningning Chen, Fang Li, Xiaosa Li, Mengjun Liu, Daihui Peng
Trials. 2023; 24: 308. Published online 2023 May 4. doi: 10.1186/s13063-023-07317-w
PMCID:
PMC10161548
AbstractArticlePDF–1.2M
18.
The Impact of COVID-19 on the Support for the German AfD: Jumping the Populist Ship or Staying the Course?
Michael Bayerlein, Anne Metten
Polit Vierteljahresschr. 2022; 63(3): 405–440. Published online 2022 May 2. doi: 10.1007/s11615-022-00398-3
PMCID:
PMC9058757
AbstractArticlePDF–1.1M
19.
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation
Marco Castori, Irene Bottillo, Daniela D'Angelantonio, Silvia Morlino, Carmelilia De Bernardo, Giovanna Scassellati Sforzolini, Evelina Silvestri, Paola Grammatico
Mol Syndromol. 2014 Aug; 5(5): 241–244. Published online 2014 Aug 5. doi: 10.1159/000365769
PMCID:
PMC4188155
AbstractArticlePDF–204K
20.
Limbal dermoid in Nager acrofacial dysostosis: A rare case report
Rohit Malik, Sumit Goel, Saurabh Aggarwal
Indian J Ophthalmol. 2014 Mar; 62(3): 339–341. doi: 10.4103/0301-4738.111194
PMCID:
PMC4061675
AbstractArticlePDF–1.2M

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