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Items: 10

1.
Integrative analysis of oncogenic fusion genes and their functional impact in colorectal cancer
Yuri Choi, Chae Hwa Kwon, Seon Jin Lee, Joonghoon Park, Jong-Yeon Shin, Do Youn Park
Br J Cancer. 2018 Jul 17; 119(2): 230–240. Published online 2018 Jun 29. doi: 10.1038/s41416-018-0153-3
PMCID:
PMC6048111
AbstractArticlePDF–977K
2.
Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family
Jinliang Li, Han Xie, Yuwu Jiang
BMC Med Genet. 2018; 19: 51. Published online 2018 Apr 2. doi: 10.1186/s12881-018-0562-4
PMCID:
PMC5880076
AbstractArticlePDF–1.1M
3.
The molecular basis of Sanfilippo syndrome type B.
H G Zhao, H H Li, G Bach, A Schmidtchen, E F Neufeld
Proc Natl Acad Sci U S A. 1996 Jun 11; 93(12): 6101–6105. doi: 10.1073/pnas.93.12.6101
PMCID:
PMC39196
SummaryPage BrowsePDF–1.2M
4.
A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis
Mehdi KHORRAMI, Manijeh MAHDAVI, Fatemeh FAKHR, Majid KHEIROLLAHI
Iran J Child Neurol. 2019 Autumn; 13(4): 173–183.
PMCID:
PMC6789092
AbstractArticlePDF–429K
5.
A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family
Sweta Jain, Vamsee Chaitanya, Mohammed Faruq
Clin Case Rep. 2018 Dec; 6(12): 2399–2402. Published online 2018 Oct 26. doi: 10.1002/ccr3.1844
PMCID:
PMC6293137
AbstractArticlePDF–265K
6.
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases
Marta Gómez-Grau, Elena Garrido, Mónica Cozar, Víctor Rodriguez-Sureda, Carmen Domínguez, Concepción Arenas, Richard A. Gatti, Bru Cormand, Daniel Grinberg, Lluïsa Vilageliu
PLoS One. 2015; 10(8): e0135873. Published online 2015 Aug 19. doi: 10.1371/journal.pone.0135873
PMCID:
PMC4545610
AbstractArticlePDF–2.3M
7.
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho
Orphanet J Rare Dis. 2014; 9: 59. Published online 2014 Apr 25. doi: 10.1186/1750-1172-9-59
PMCID:
PMC4024120
AbstractArticlePDF–447K
8.
Genome-wide siRNA screen reveals a new cellular partner of NK cell receptor KIR2DL4: heparan sulfate directly modulates KIR2DL4-mediated responses
Michael Brusilovsky, Moti Cordoba, Benyamin Rosental, Oren Hershkovitz, Mark D. Andrake, Anna Pecherskaya, Margret B. Einarson, Yan Zhou, Alex Braiman, Kerry S. Campbell, Angel Porgador
J Immunol. Author manuscript; available in PMC 2014 Nov 15.
Published in final edited form as: J Immunol. 2013 Nov 15; 191(10): 10.4049/jimmunol.1302079. Published online 2013 Oct 14. doi: 10.4049/jimmunol.1302079
PMCID:
PMC3836631
AbstractArticlePDF–3.1M
9.
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Kaja K Selmer, Gregor D Gilfillan, Petter Strømme, Robert Lyle, Timothy Hughes, Hanne S Hjorthaug, Kristin Brandal, Sigve Nakken, Doriana Misceo, Thore Egeland, Ludvig A Munthe, Sigrun K Braekken, Dag E Undlien
Eur J Hum Genet. 2012 Jan; 20(1): 58–63. Published online 2011 Jun 29. doi: 10.1038/ejhg.2011.126
PMCID:
PMC3234502
AbstractArticlePDF–419K
10.
Identifying the Molecular Signature of the Interstitial Deletion 7q Subgroup of Uterine Leiomyomata Using a Paired Analysis
Jennelle C. Hodge, Peter J. Park, Jonathan M. Dreyfuss, Iman Assil-Kishawi, Priya Somasundaram, Luwam G. Semere, Bradley J. Quade, Allison M. Lynch, Elizabeth A. Stewart, Cynthia C. Morton
Genes Chromosomes Cancer. Author manuscript; available in PMC 2010 Oct 1.
Published in final edited form as: Genes Chromosomes Cancer. 2009 Oct; 48(10): 865–885. doi: 10.1002/gcc.20692
PMCID:
PMC2778251
AbstractArticlePDF–2.9M

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