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Year Number of Results
1987 1
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2000 1
2002 2
2005 1
2007 1
2008 2
2009 1
2010 1
2011 1
2013 1
2014 1
2015 1
2016 1
2018 1
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19 results

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Page 1
Microtia and Related Facial Anomalies.
Hartzell LD, Chinnadurai S. Hartzell LD, et al. Clin Perinatol. 2018 Dec;45(4):679-697. doi: 10.1016/j.clp.2018.07.007. Epub 2018 Sep 18. Clin Perinatol. 2018. PMID: 30396412 Review.
Nager syndrome and Pierre Robin sequence.
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR. Rosa RF, et al. Pediatr Int. 2015 Apr;57(2):e69-72. doi: 10.1111/ped.12562. Epub 2015 Mar 25. Pediatr Int. 2015. PMID: 25808856 Review.
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Delrue MA, Flori E, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M. Petit F, et al. Clin Genet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259. Epub 2013 Sep 12. Clin Genet. 2014. PMID: 24003905
We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations predicted to result in loss-of-function. SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported …
We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations pred …
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718
Subject and control fibroblasts had similar amounts of PHF5A with the predicted wild-type molecular weight and of SF3B1-3 and SF3B6. SF3B complex formation was unaffected in 2 subject cell lines. ...
Subject and control fibroblasts had similar amounts of PHF5A with the predicted wild-type molecular weight and of SF3B1-3 and SF3B6. …
SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.
Ulhaq ZS, Soraya GV, Istifiani LA, Pamungkas SA, Tse WKF. Ulhaq ZS, et al. Cleft Palate Craniofac J. 2023 Aug;60(8):1041-1047. doi: 10.1177/10556656221089156. Epub 2022 Mar 25. Cleft Palate Craniofac J. 2023. PMID: 35331022
Although no significant genotype-phenotype association was found, it is notable that patients with frameshift SF3B4 variants and predicted to lead to nonsense-mediated RNA decay (NMD) of the transcripts tended to have a more severe clinical manifestation. ...
Although no significant genotype-phenotype association was found, it is notable that patients with frameshift SF3B4 variants and predicte …
Nager syndrome. Problems and possibilities of therapy.
Opitz C, Stoll C, Ring P. Opitz C, et al. J Orofac Orthop. 2000;61(4):226-36. doi: 10.1007/s000560050008. J Orofac Orthop. 2000. PMID: 10961048 Review. English, German.
A case study of a patient who has been followed from birth to adulthood illustrates the surgical/orthodontic course of treatment and its limits....
A case study of a patient who has been followed from birth to adulthood illustrates the surgical/orthodontic course of treatment and …
19 results