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Year | Number of Results |
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PubMed (OMIM) for id: 51574
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LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Eur J Med Genet. 2019 Mar;62(3):161-166. doi: 10.1016/j.ejmg.2018.07.003. Epub 2018 Jul 10.
Eur J Med Genet. 2019.
PMID: 30006060
Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
Ling TT, Sorrentino S.
Ling TT, et al.
Am J Med Genet A. 2016 Jan;170A(1):217-9. doi: 10.1002/ajmg.a.37396. Epub 2015 Sep 16.
Am J Med Genet A. 2016.
PMID: 26374271
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Conservation of RNA chaperone activity of the human La-related proteins 4, 6 and 7.
Hussain RH, Zawawi M, Bayfield MA.
Hussain RH, et al.
Nucleic Acids Res. 2013 Oct;41(18):8715-25. doi: 10.1093/nar/gkt649. Epub 2013 Jul 25.
Nucleic Acids Res. 2013.
PMID: 23887937
Free PMC article.
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Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, Al-Qahtani SM, Alsheddi T, Colak D, Alkuraya FS.
Alazami AM, et al.
Hum Mutat. 2012 Oct;33(10):1429-34. doi: 10.1002/humu.22175. Epub 2012 Aug 30.
Hum Mutat. 2012.
PMID: 22865833
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH.
Najmabadi H, et al.
Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.
Nature. 2011.
PMID: 21937992
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A La-related protein modulates 7SK snRNP integrity to suppress P-TEFb-dependent transcriptional elongation and tumorigenesis.
He N, Jahchan NS, Hong E, Li Q, Bayfield MA, Maraia RJ, Luo K, Zhou Q.
He N, et al.
Mol Cell. 2008 Mar 14;29(5):588-99. doi: 10.1016/j.molcel.2008.01.003. Epub 2008 Jan 31.
Mol Cell. 2008.
PMID: 18249148
Free PMC article.
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