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13 results

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Page 1
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F. Guterman S, et al. Prenat Diagn. 2019 Sep;39(10):871-882. doi: 10.1002/pd.5498. Epub 2019 Jul 5. Prenat Diagn. 2019. PMID: 31172545 Review.
[An updated review of 1p36 deletion (monosomy) syndrome].
Bello S, Rodríguez-Moreno A. Bello S, et al. Rev Chil Pediatr. 2016 Sep-Oct;87(5):411-421. doi: 10.1016/j.rchipe.2015.12.004. Epub 2016 Feb 12. Rev Chil Pediatr. 2016. PMID: 26875550 Free article. Review. Spanish.
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.
Kramer RJ, Fatahian AN, Chan A, Mortenson J, Osher J, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Birjiniuk A, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Martinez HR, Boudina S, Landstrom AP. Kramer RJ, et al. Circ Genom Precis Med. 2023 Aug;16(4):390-400. doi: 10.1161/CIRCGEN.122.003912. Epub 2023 Jul 3. Circ Genom Precis Med. 2023. PMID: 37395136 Free PMC article.
Novel airway findings in a patient with 1p36 deletion syndrome.
Ferril GR, Barham HP, Prager JD. Ferril GR, et al. Int J Pediatr Otorhinolaryngol. 2014 Jan;78(1):157-8. doi: 10.1016/j.ijporl.2013.08.041. Epub 2013 Nov 14. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24290305 Review.
1p36 tumor suppression--a matter of dosage?
Henrich KO, Schwab M, Westermann F. Henrich KO, et al. Cancer Res. 2012 Dec 1;72(23):6079-88. doi: 10.1158/0008-5472.CAN-12-2230. Epub 2012 Nov 20. Cancer Res. 2012. PMID: 23172308 Review.
13 results