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Page 1
Pallister-Killian syndrome.
Izumi K, Krantz ID. Izumi K, et al. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):406-13. doi: 10.1002/ajmg.c.31423. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25425112 Review.
Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, congenital diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy. ...
Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital he …
Pallister-Killian syndrome.
Srinivasan A, Wright D. Srinivasan A, et al. Am J Case Rep. 2014 May 7;15:194-8. doi: 10.12659/AJCR.890614. eCollection 2014. Am J Case Rep. 2014. PMID: 24826207 Free PMC article.
PATIENT: Male, 0 FINAL DIAGNOSIS: Pallister-Killian syndrome Symptoms: Decidious tooth flattened nasal bridge frontal bossing grooved palate low-set ears mid-facial hypoplasia nuchal fold thickening right inquinal testis shortened upper extremities undescende …
PATIENT: Male, 0 FINAL DIAGNOSIS: Pallister-Killian syndrome Symptoms: Decidious tooth flattened nasal bridge frontal b …
Pallister-Killian syndrome: Review of fetal phenotype.
Thakur S, Gupta R, Tiwari B, Singh N, Saxena KK. Thakur S, et al. Clin Genet. 2019 Jan;95(1):79-84. doi: 10.1111/cge.13381. Epub 2018 Jun 29. Clin Genet. 2019. PMID: 29790157 Review.
Pallister-Killian syndrome is a multi-system sporadic disorder with developmental delay. ...
Pallister-Killian syndrome is a multi-system sporadic disorder with developmental delay. ...
[Pallister-Killian mosaic syndrome].
Kawame H. Kawame H. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):464-5. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528839 Review. Japanese. No abstract available.
Testicular cancer.
Cheng L, Albers P, Berney DM, Feldman DR, Daugaard G, Gilligan T, Looijenga LHJ. Cheng L, et al. Nat Rev Dis Primers. 2018 Oct 5;4(1):29. doi: 10.1038/s41572-018-0029-0. Nat Rev Dis Primers. 2018. PMID: 30291251 Review.
Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.
Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K. Fujiki K, et al. Mol Genet Genomic Med. 2016 Jan 20;4(3):257-61. doi: 10.1002/mgg3.200. eCollection 2016 May. Mol Genet Genomic Med. 2016. PMID: 27247953 Free PMC article.
BACKGROUND: Pallister-Killian syndrome (PKS) is a prototypic mosaic aneuploidy syndrome caused by mosaic supernumerary marker isochromosome 12p. ...
BACKGROUND: Pallister-Killian syndrome (PKS) is a prototypic mosaic aneuploidy syndrome caused by mosaic supernumerary …
Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.
Elsheikh A, Al Shehhi M, Goud TM, Itoo B, Al Harasi S. Elsheikh A, et al. Oman Med J. 2019 May;34(3):249-253. doi: 10.5001/omj.2019.47. Oman Med J. 2019. PMID: 31110634 Free PMC article.
Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). ...
Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and inte …
Pallister-Killian syndrome: a study of 22 British patients.
Blyth M, Maloney V, Beal S, Collinson M, Huang S, Crolla J, Temple IK, Baralle D. Blyth M, et al. J Med Genet. 2015 Jul;52(7):454-64. doi: 10.1136/jmedgenet-2014-102877. Epub 2015 Apr 17. J Med Genet. 2015. PMID: 25888713
BACKGROUND: Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). ...New features which have not previously been recognised as part of Pallister-Killian syndrome inclu …
BACKGROUND: Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chr …
Neuroimaging findings in Pallister-Killian syndrome.
Barkovich EJ, Lateef TM, Whitehead MT. Barkovich EJ, et al. Neuroradiol J. 2018 Aug;31(4):403-411. doi: 10.1177/1971400917744798. Epub 2017 Dec 20. Neuroradiol J. 2018. PMID: 29260614 Free PMC article. Review.
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). ...
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short ar …
246 results