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Year Number of Results
2006 1
2007 1
2008 2
2010 1
2014 4
2015 1
2016 3
2020 1
2021 1
2022 1
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Page 1
Transmission of a Novel Imprinting Center Deletion Associated With Prader-Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About.
Zhang K, Liu S, Gu W, Lv Y, Yu H, Gao M, Wang D, Zhao J, Li X, Gai Z, Zhao S, Liu Y, Yuan Y. Zhang K, et al. Front Genet. 2021 Aug 24;12:630650. doi: 10.3389/fgene.2021.630650. eCollection 2021. Front Genet. 2021. PMID: 34504512 Free PMC article.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A. El Khattabi L, et al. Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351778 Free PMC article.
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O. Bonaglia MC, et al. Eur J Hum Genet. 2008 Dec;16(12):1443-9. doi: 10.1038/ejhg.2008.119. Epub 2008 Jul 23. Eur J Hum Genet. 2008. PMID: 18648397
14 results