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Identification of genomic features in the classification of loss- and gain-of-function mutation.

BMC medical informatics and decision making

Jung S, Lee S, Kim S, Nam H.
PMID: 26043747
BMC Med Inform Decis Mak. 2015;15:S6. doi: 10.1186/1472-6947-15-S1-S6. Epub 2015 May 20.

BACKGROUND: Alterations of a genome can lead to changes in protein functions. Through these genetic mutations, a protein can lose its native function (loss-of-function, LoF), or it can confer a new function (gain-of-function, GoF). However, when a mutation occurs,...

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Jung S, Lee S, Kim S, et al. Identification of genomic features in the classification of loss- and gain-of-function mutation. BMC Med Inform Decis Mak. 2015;15:S6doi: 10.1186/1472-6947-15-S1-S6.
Jung, S., Lee, S., Kim, S., & Nam, H. (2015). Identification of genomic features in the classification of loss- and gain-of-function mutation. BMC medical informatics and decision making, 15S6. https://doi.org/10.1186/1472-6947-15-S1-S6
Jung, Seunghwan, et al. "Identification of genomic features in the classification of loss- and gain-of-function mutation." BMC medical informatics and decision making vol. 15 (2015): S6. doi: https://doi.org/10.1186/1472-6947-15-S1-S6
Jung S, Lee S, Kim S, Nam H. Identification of genomic features in the classification of loss- and gain-of-function mutation. BMC Med Inform Decis Mak. 2015;15:S6. doi: 10.1186/1472-6947-15-S1-S6. Epub 2015 May 20. PMID: 26043747; PMCID: PMC4460711.
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An understanding of spinocerebellar ataxia.

The Indian journal of medical research

Ramachandra NB, Kusuma L.
PMID: 25900947
Indian J Med Res. 2015 Feb;141(2):148-50. doi: 10.4103/0971-5916.155537.

No abstract available.

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Ramachandra NB, Kusuma L. An understanding of spinocerebellar ataxia. Indian J Med Res. 2015;141(2):148-50doi: 10.4103/0971-5916.155537.
Ramachandra, N. B., & Kusuma, L. (2015). An understanding of spinocerebellar ataxia. The Indian journal of medical research, 141(2), 148-50. https://doi.org/10.4103/0971-5916.155537
Ramachandra, N B, and Kusuma, L. "An understanding of spinocerebellar ataxia." The Indian journal of medical research vol. 141,2 (2015): 148-50. doi: https://doi.org/10.4103/0971-5916.155537
Ramachandra NB, Kusuma L. An understanding of spinocerebellar ataxia. Indian J Med Res. 2015 Feb;141(2):148-50. doi: 10.4103/0971-5916.155537. PMID: 25900947; PMCID: PMC4418148.
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Reply.

The Journal of pediatrics

Woiewodski L, Ezon D, Cooper J, Feingold B.
PMID: 28336143
J Pediatr. 2017 Jul;186:214-215. doi: 10.1016/j.jpeds.2017.02.069. Epub 2017 Mar 20.

No abstract available.

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Woiewodski L, Ezon D, Cooper J, et al. Reply. J Pediatr. 2017;186:214-215doi: 10.1016/j.jpeds.2017.02.069.
Woiewodski, L., Ezon, D., Cooper, J., & Feingold, B. (2017). Reply. The Journal of pediatrics, 186214-215. https://doi.org/10.1016/j.jpeds.2017.02.069
Woiewodski, Leanne, et al. "Reply." The Journal of pediatrics vol. 186 (2017): 214-215. doi: https://doi.org/10.1016/j.jpeds.2017.02.069
Woiewodski L, Ezon D, Cooper J, Feingold B. Reply. J Pediatr. 2017 Jul;186:214-215. doi: 10.1016/j.jpeds.2017.02.069. Epub 2017 Mar 20. PMID: 28336143.
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Comments on 'A note on the variance of the estimate of the fixation index F'.

Journal of genetics

Chakraborty R.
PMID: 27350663
J Genet. 2016 Jun;95(2):229-30. doi: 10.1007/s12041-016-0658-6.

No abstract available.

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Chakraborty R. Comments on 'A note on the variance of the estimate of the fixation index F'. J Genet. 2016;95(2):229-30doi: 10.1007/s12041-016-0658-6.
Chakraborty, R. (2016). Comments on 'A note on the variance of the estimate of the fixation index F'. Journal of genetics, 95(2), 229-30. https://doi.org/10.1007/s12041-016-0658-6
Chakraborty, Ranjit. "Comments on 'A note on the variance of the estimate of the fixation index F'." Journal of genetics vol. 95,2 (2016): 229-30. doi: https://doi.org/10.1007/s12041-016-0658-6
Chakraborty R. Comments on 'A note on the variance of the estimate of the fixation index F'. J Genet. 2016 Jun;95(2):229-30. doi: 10.1007/s12041-016-0658-6. PMID: 27350663.
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing.

Journal of visualized experiments : JoVE

Lv X, Zhao M, Yi Y, Zhang L, Guan Y, Liu T, Yang L, Chen R, Ma J, Yi X.
PMID: 28872127
J Vis Exp. 2017 Aug 24;(126). doi: 10.3791/56342.

The analysis of circulating tumor DNA (ctDNA) using next-generation sequencing (NGS) has become a valuable tool for the development of clinical oncology. However, the application of this method is challenging due to its low sensitivity in analyzing the trace...

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Lv X, Zhao M, Yi Y, et al. Detection of Rare Mutations in CtDNA Using Next Generation Sequencing. J Vis Exp. 2017;(126)doi: 10.3791/56342.
Lv, X., Zhao, M., Yi, Y., Zhang, L., Guan, Y., Liu, T., Yang, L., Chen, R., Ma, J., & Yi, X. (2017). Detection of Rare Mutations in CtDNA Using Next Generation Sequencing. Journal of visualized experiments : JoVE, (126), . https://doi.org/10.3791/56342
Lv, Xiaoxing, et al. "Detection of Rare Mutations in CtDNA Using Next Generation Sequencing." Journal of visualized experiments : JoVE vol. ,126 (2017). doi: https://doi.org/10.3791/56342
Lv X, Zhao M, Yi Y, Zhang L, Guan Y, Liu T, Yang L, Chen R, Ma J, Yi X. Detection of Rare Mutations in CtDNA Using Next Generation Sequencing. J Vis Exp. 2017 Aug 24;(126). doi: 10.3791/56342. PMID: 28872127; PMCID: PMC5614374.
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Phenotypic spectrum of POLG1 mutations.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Finsterer J, Scorza FA.
PMID: 28905223
Neurol Sci. 2018 Mar;39(3):571-573. doi: 10.1007/s10072-017-3116-1. Epub 2017 Sep 13.

No abstract available.

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Finsterer J, Scorza FA. Phenotypic spectrum of POLG1 mutations. Neurol Sci. 2017;39(3):571-573doi: 10.1007/s10072-017-3116-1.
Finsterer, J., & Scorza, F. A. (2018). Phenotypic spectrum of POLG1 mutations. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 39(3), 571-573. https://doi.org/10.1007/s10072-017-3116-1
Finsterer, Josef, and Scorza, Fulvio A. "Phenotypic spectrum of POLG1 mutations." Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 39,3 (2018): 571-573. doi: https://doi.org/10.1007/s10072-017-3116-1
Finsterer J, Scorza FA. Phenotypic spectrum of POLG1 mutations. Neurol Sci. 2018 Mar;39(3):571-573. doi: 10.1007/s10072-017-3116-1. Epub 2017 Sep 13. PMID: 28905223.
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Improving prognostic tools in systemic mastocytosis: Insights from mutations.

American journal of hematology

Pieri L, Vannucchi AM.
PMID: 27397606
Am J Hematol. 2016 Sep;91(9):867-8. doi: 10.1002/ajh.24472. Epub 2016 Aug 04.

No abstract available.

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Pieri L, Vannucchi AM. Improving prognostic tools in systemic mastocytosis: Insights from mutations. Am J Hematol. 2016;91(9):867-8doi: 10.1002/ajh.24472.
Pieri, L., & Vannucchi, A. M. (2016). Improving prognostic tools in systemic mastocytosis: Insights from mutations. American journal of hematology, 91(9), 867-8. https://doi.org/10.1002/ajh.24472
Pieri, Lisa, and Vannucchi, Alessandro M. "Improving prognostic tools in systemic mastocytosis: Insights from mutations." American journal of hematology vol. 91,9 (2016): 867-8. doi: https://doi.org/10.1002/ajh.24472
Pieri L, Vannucchi AM. Improving prognostic tools in systemic mastocytosis: Insights from mutations. Am J Hematol. 2016 Sep;91(9):867-8. doi: 10.1002/ajh.24472. Epub 2016 Aug 04. PMID: 27397606.
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The preclinical stage of spinocerebellar ataxias.

Neurology

Maas RP, van Gaalen J, Klockgether T, van de Warrenburg BP.
PMID: 26062625
Neurology. 2015 Jul 07;85(1):96-103. doi: 10.1212/WNL.0000000000001711. Epub 2015 Jun 10.

The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of degenerative diseases of the cerebellum and connected regions. The discovery of various SCA genes and the subsequent possibility of predictive testing currently allow a genetic diagnosis to be...

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Maas RP, van Gaalen J, Klockgether T, et al. The preclinical stage of spinocerebellar ataxias. Neurology. 2015;85(1):96-103doi: 10.1212/WNL.0000000000001711.
Maas, R. P., van Gaalen, J., Klockgether, T., & van de Warrenburg, B. P. (2015). The preclinical stage of spinocerebellar ataxias. Neurology, 85(1), 96-103. https://doi.org/10.1212/WNL.0000000000001711
Maas, Roderick P P W M, et al. "The preclinical stage of spinocerebellar ataxias." Neurology vol. 85,1 (2015): 96-103. doi: https://doi.org/10.1212/WNL.0000000000001711
Maas RP, van Gaalen J, Klockgether T, van de Warrenburg BP. The preclinical stage of spinocerebellar ataxias. Neurology. 2015 Jul 07;85(1):96-103. doi: 10.1212/WNL.0000000000001711. Epub 2015 Jun 10. PMID: 26062625.
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Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue.

Human mutation

Cotton RG.
PMID: 10612814
Hum Mutat. 2000;15(1):4-6. doi: 10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T.

No abstract available.

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Cotton RG. Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue. Hum Mutat. 2000;15(1):4-6doi: 10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T.
Cotton, R. G. (2000). Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue. Human mutation, 15(1), 4-6. https://doi.org/10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T
Cotton, R G. "Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue." Human mutation vol. 15,1 (2000): 4-6. doi: https://doi.org/10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T
Cotton RG. Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue. Hum Mutat. 2000;15(1):4-6. doi: 10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T. PMID: 10612814.
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[Current aspects of problem of the mutational variability in microorganisms].

Vestnik Akademii meditsinskikh nauk SSSR

TIMAKOV VD, SKAVRONSKAIA AG.
PMID: 13776924
Vestn Akad Med Nauk SSSR. 1961;16:3-20.

No abstract available.

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TIMAKOV VD, SKAVRONSKAIA AG. [Current aspects of problem of the mutational variability in microorganisms]. Vestn Akad Med Nauk SSSR. 1961;16:3-20
TIMAKOV, V. D., & SKAVRONSKAIA, A. G. (1961). [Current aspects of problem of the mutational variability in microorganisms]. Vestnik Akademii meditsinskikh nauk SSSR, 163-20.
TIMAKOV, V D, and SKAVRONSKAIA, A G. "[Current aspects of problem of the mutational variability in microorganisms]." Vestnik Akademii meditsinskikh nauk SSSR vol. 16 (1961): 3-20.
TIMAKOV VD, SKAVRONSKAIA AG. [Current aspects of problem of the mutational variability in microorganisms]. Vestn Akad Med Nauk SSSR. 1961;16:3-20. Russian. PMID: 13776924.
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A strain of Escherichia coli with an unusually high rate of auxotrophic mutation.

Journal of bacteriology

GOLDSTEIN A, SMOOT JS.
PMID: 13271297
J Bacteriol. 1955 Nov;70(5):588-95. doi: 10.1128/jb.70.5.588-595.1955.

No abstract available.

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GOLDSTEIN A, SMOOT JS. A strain of Escherichia coli with an unusually high rate of auxotrophic mutation. J Bacteriol. 1955;70(5):588-95doi: 10.1128/jb.70.5.588-595.1955.
GOLDSTEIN, A., & SMOOT, J. S. (1955). A strain of Escherichia coli with an unusually high rate of auxotrophic mutation. Journal of bacteriology, 70(5), 588-95. https://doi.org/10.1128/jb.70.5.588-595.1955
GOLDSTEIN, A, and SMOOT, J S. "A strain of Escherichia coli with an unusually high rate of auxotrophic mutation." Journal of bacteriology vol. 70,5 (1955): 588-95. doi: https://doi.org/10.1128/jb.70.5.588-595.1955
GOLDSTEIN A, SMOOT JS. A strain of Escherichia coli with an unusually high rate of auxotrophic mutation. J Bacteriol. 1955 Nov;70(5):588-95. doi: 10.1128/jb.70.5.588-595.1955. PMID: 13271297; PMCID: PMC357717.
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Congenital myasthenic syndromes: gene mutations.

Neuromuscular disorders : NMD

Ohno K, Engel AG.
PMID: 14702950
Neuromuscul Disord. 2004 Jan;14(1):117-22. doi: 10.1016/s0960-8966(03)00241-4.

No abstract available.

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Ohno K, Engel AG. Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord. 2004;14(1):117-22doi: 10.1016/s0960-8966(03)00241-4.
Ohno, K., & Engel, A. G. (2004). Congenital myasthenic syndromes: gene mutations. Neuromuscular disorders : NMD, 14(1), 117-22. https://doi.org/10.1016/s0960-8966(03)00241-4
Ohno, Kinjii, and Engel, Andrew G. "Congenital myasthenic syndromes: gene mutations." Neuromuscular disorders : NMD vol. 14,1 (2004): 117-22. doi: https://doi.org/10.1016/s0960-8966(03)00241-4
Ohno K, Engel AG. Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord. 2004 Jan;14(1):117-22. doi: 10.1016/s0960-8966(03)00241-4. PMID: 14702950.
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Showing 1 to 12 of 248 entries