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Showing 1 to 12 of 32 entries
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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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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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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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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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Microarray analysis: the evolving story of oral polio vaccines.

Heredity

Breuer J.
PMID: 14603348
Heredity (Edinb). 2004 Jan;92(1):3-4. doi: 10.1038/sj.hdy.6800373.

No abstract available.

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Breuer J. Microarray analysis: the evolving story of oral polio vaccines. Heredity (Edinb). 2004;92(1):3-4doi: 10.1038/sj.hdy.6800373.
Breuer, J. (2004). Microarray analysis: the evolving story of oral polio vaccines. Heredity, 92(1), 3-4. https://doi.org/10.1038/sj.hdy.6800373
Breuer, J. "Microarray analysis: the evolving story of oral polio vaccines." Heredity vol. 92,1 (2004): 3-4. doi: https://doi.org/10.1038/sj.hdy.6800373
Breuer J. Microarray analysis: the evolving story of oral polio vaccines. Heredity (Edinb). 2004 Jan;92(1):3-4. doi: 10.1038/sj.hdy.6800373. PMID: 14603348.
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The expanding universe of inflammatory bowel disease genetics.

Current opinion in gastroenterology

Achkar JP, Duerr R.
PMID: 18622155
Curr Opin Gastroenterol. 2008 Jul;24(4):429-34. doi: 10.1097/MOG.0b013e3283009c92.

PURPOSE OF REVIEW: Genetic factors play an important role in the pathogenesis of inflammatory bowel disease. In this review, we will provide an update on the rapid advances in the discovery of inflammatory bowel disease, primarily Crohn's disease, associated...

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Achkar JP, Duerr R. The expanding universe of inflammatory bowel disease genetics. Curr Opin Gastroenterol. 2008;24(4):429-34doi: 10.1097/MOG.0b013e3283009c92.
Achkar, J. P., & Duerr, R. (2008). The expanding universe of inflammatory bowel disease genetics. Current opinion in gastroenterology, 24(4), 429-34. https://doi.org/10.1097/MOG.0b013e3283009c92
Achkar, Jean-Paul, and Duerr, Richard. "The expanding universe of inflammatory bowel disease genetics." Current opinion in gastroenterology vol. 24,4 (2008): 429-34. doi: https://doi.org/10.1097/MOG.0b013e3283009c92
Achkar JP, Duerr R. The expanding universe of inflammatory bowel disease genetics. Curr Opin Gastroenterol. 2008 Jul;24(4):429-34. doi: 10.1097/MOG.0b013e3283009c92. PMID: 18622155.
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Data mining using the Catalogue of Somatic Mutations in Cancer BioMart.

Database : the journal of biological databases and curation

Shepherd R, Forbes SA, Beare D, Bamford S, Cole CG, Ward S, Bindal N, Gunasekaran P, Jia M, Kok CY, Leung K, Menzies A, Butler AP, Teague JW, Campbell PJ, Stratton MR, Futreal PA.
PMID: 21609966
Database (Oxford). 2011 May 23;2011:bar018. doi: 10.1093/database/bar018. Print 2011.

Catalogue of Somatic Mutations in Cancer (COSMIC) (http://www.sanger.ac.uk/cosmic) is a publicly available resource providing information on somatic mutations implicated in human cancer. Release v51 (January 2011) includes data from just over 19,000 genes, 161,787 coding mutations and 5573 gene...

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Shepherd R, Forbes SA, Beare D, et al. Data mining using the Catalogue of Somatic Mutations in Cancer BioMart. Database (Oxford). 2011;2011:bar018doi: 10.1093/database/bar018.
Shepherd, R., Forbes, S. A., Beare, D., Bamford, S., Cole, C. G., Ward, S., Bindal, N., Gunasekaran, P., Jia, M., Kok, C. Y., Leung, K., Menzies, A., Butler, A. P., Teague, J. W., Campbell, P. J., Stratton, M. R., & Futreal, P. A. (2011). Data mining using the Catalogue of Somatic Mutations in Cancer BioMart. Database : the journal of biological databases and curation, 2011bar018. https://doi.org/10.1093/database/bar018
Shepherd, Rebecca, et al. "Data mining using the Catalogue of Somatic Mutations in Cancer BioMart." Database : the journal of biological databases and curation vol. 2011 (2011): bar018. doi: https://doi.org/10.1093/database/bar018
Shepherd R, Forbes SA, Beare D, Bamford S, Cole CG, Ward S, Bindal N, Gunasekaran P, Jia M, Kok CY, Leung K, Menzies A, Butler AP, Teague JW, Campbell PJ, Stratton MR, Futreal PA. Data mining using the Catalogue of Somatic Mutations in Cancer BioMart. Database (Oxford). 2011 May 23;2011:bar018. doi: 10.1093/database/bar018. Print 2011. PMID: 21609966; PMCID: PMC3263736.
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De novo mutation in schizophrenia.

Schizophrenia bulletin

Rees E, Kirov G, O'Donovan MC, Owen MJ.
PMID: 22451492
Schizophr Bull. 2012 May;38(3):377-81. doi: 10.1093/schbul/sbs047. Epub 2012 Mar 26.

Several studies in the last 5 years have shown that newly arising (de novo) mutations contribute to the genetics of schizophrenia (SZ). This will replenish genetic variants removed by natural selection and could, in part, explain why SZ prevalence...

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Rees E, Kirov G, O'Donovan MC, et al. De novo mutation in schizophrenia. Schizophr Bull. 2012;38(3):377-81doi: 10.1093/schbul/sbs047.
Rees, E., Kirov, G., O'Donovan, M. C., & Owen, M. J. (2012). De novo mutation in schizophrenia. Schizophrenia bulletin, 38(3), 377-81. https://doi.org/10.1093/schbul/sbs047
Rees, Elliott, et al. "De novo mutation in schizophrenia." Schizophrenia bulletin vol. 38,3 (2012): 377-81. doi: https://doi.org/10.1093/schbul/sbs047
Rees E, Kirov G, O'Donovan MC, Owen MJ. De novo mutation in schizophrenia. Schizophr Bull. 2012 May;38(3):377-81. doi: 10.1093/schbul/sbs047. Epub 2012 Mar 26. PMID: 22451492; PMCID: PMC3329988.
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Using MEMo to discover mutual exclusivity modules in cancer.

Current protocols in bioinformatics

Ciriello G, Cerami E, Aksoy BA, Sander C, Schultz N.
PMID: 23504936
Curr Protoc Bioinformatics. 2013 Mar;Unit 8.17. doi: 10.1002/0471250953.bi0817s41.

Although individual tumors show surprisingly diverse genomic alterations, these events tend to occur in a limited number of pathways, and alterations that affect the same pathway tend to not co-occur in the same patient. While pathway analysis has been...

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Ciriello G, Cerami E, Aksoy BA, et al. Using MEMo to discover mutual exclusivity modules in cancer. Curr Protoc Bioinformatics. 2013;Unit 8.17doi: 10.1002/0471250953.bi0817s41.
Ciriello, G., Cerami, E., Aksoy, B. A., Sander, C., & Schultz, N. (2013). Using MEMo to discover mutual exclusivity modules in cancer. Current protocols in bioinformatics, Unit 8.17. https://doi.org/10.1002/0471250953.bi0817s41
Ciriello, Giovanni, et al. "Using MEMo to discover mutual exclusivity modules in cancer." Current protocols in bioinformatics vol. (2013): Unit 8.17. doi: https://doi.org/10.1002/0471250953.bi0817s41
Ciriello G, Cerami E, Aksoy BA, Sander C, Schultz N. Using MEMo to discover mutual exclusivity modules in cancer. Curr Protoc Bioinformatics. 2013 Mar;Unit 8.17. doi: 10.1002/0471250953.bi0817s41. PMID: 23504936; PMCID: PMC5563973.
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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

Cell reports

Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N.
PMID: 29346770
Cell Rep. 2018 Jan 16;22(3):734-747. doi: 10.1016/j.celrep.2017.12.074.

Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on...

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Takata A, Miyake N, Tsurusaki Y, et al. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell Rep. 2018;22(3):734-747doi: 10.1016/j.celrep.2017.12.074.
Takata, A., Miyake, N., Tsurusaki, Y., Fukai, R., Miyatake, S., Koshimizu, E., Kushima, I., Okada, T., Morikawa, M., Uno, Y., Ishizuka, K., Nakamura, K., Tsujii, M., Yoshikawa, T., Toyota, T., Okamoto, N., Hiraki, Y., Hashimoto, R., Yasuda, Y., Saitoh, S., Ohashi, K., Sakai, Y., Ohga, S., Hara, T., Kato, M., Nakamura, K., Ito, A., Seiwa, C., Shirahata, E., Osaka, H., Matsumoto, A., Takeshita, S., Tohyama, J., Saikusa, T., Matsuishi, T., Nakamura, T., Tsuboi, T., Kato, T., Suzuki, T., Saitsu, H., Nakashima, M., Mizuguchi, T., Tanaka, F., Mori, N., Ozaki, N., & Matsumoto, N. (2018). Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell reports, 22(3), 734-747. https://doi.org/10.1016/j.celrep.2017.12.074
Takata, Atsushi, et al. "Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder." Cell reports vol. 22,3 (2018): 734-747. doi: https://doi.org/10.1016/j.celrep.2017.12.074
Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell Rep. 2018 Jan 16;22(3):734-747. doi: 10.1016/j.celrep.2017.12.074. PMID: 29346770.
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Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies.

Neuroscience and biobehavioral reviews

Choi L, An JY.
PMID: 34166716
Neurosci Biobehav Rev. 2021 Sep;128:244-257. doi: 10.1016/j.neubiorev.2021.06.028. Epub 2021 Jun 21.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. Recently developed genomic technologies, including microarray and next-generation sequencing (NGS), have enabled researchers to genetic analyses aimed at identifying genetic variations associated with ASD and to...

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Choi L, An JY. Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. Neurosci Biobehav Rev. 2021;128:244-257doi: 10.1016/j.neubiorev.2021.06.028.
Choi, L., & An, J. Y. (2021). Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. Neuroscience and biobehavioral reviews, 128244-257. https://doi.org/10.1016/j.neubiorev.2021.06.028
Choi, Leejee, and An, Joon-Yong. "Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies." Neuroscience and biobehavioral reviews vol. 128 (2021): 244-257. doi: https://doi.org/10.1016/j.neubiorev.2021.06.028
Choi L, An JY. Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. Neurosci Biobehav Rev. 2021 Sep;128:244-257. doi: 10.1016/j.neubiorev.2021.06.028. Epub 2021 Jun 21. PMID: 34166716.
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Overview of the BioCreative VI Precision Medicine Track: mining protein interactions and mutations for precision medicine.

Database : the journal of biological databases and curation

Islamaj Dogan R, Kim S, Chatr-Aryamontri A, Wei CH, Comeau DC, Antunes R, Matos S, Chen Q, Elangovan A, Panyam NC, Verspoor K, Liu H, Wang Y, Liu Z, Altinel B, Hüsünbeyi ZM, Özgür A, Fergadis A, Wang CK, Dai HJ, Tran T, Kavuluru R, Luo L, Steppi A, Zhang J, Qu J, Lu Z.
PMID: 30689846
Database (Oxford). 2019 Jan 01;2019. doi: 10.1093/database/bay147.

The Precision Medicine Initiative is a multicenter effort aiming at formulating personalized treatments leveraging on individual patient data (clinical, genome sequence and functional genomic data) together with the information in large knowledge bases (KBs) that integrate genome annotation, disease...

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Islamaj Dogan R, Kim S, Chatr-Aryamontri A, et al. Overview of the BioCreative VI Precision Medicine Track: mining protein interactions and mutations for precision medicine. Database (Oxford). 2019;2019doi: 10.1093/database/bay147.
Islamaj Dogan, R., Kim, S., Chatr-Aryamontri, A., Wei, C. H., Comeau, D. C., Antunes, R., Matos, S., Chen, Q., Elangovan, A., Panyam, N. C., Verspoor, K., Liu, H., Wang, Y., Liu, Z., Altinel, B., Hüsünbeyi, Z. M., Özgür, A., Fergadis, A., Wang, C. K., Dai, H. J., Tran, T., Kavuluru, R., Luo, L., Steppi, A., Zhang, J., Qu, J., & Lu, Z. (2019). Overview of the BioCreative VI Precision Medicine Track: mining protein interactions and mutations for precision medicine. Database : the journal of biological databases and curation, 2019. https://doi.org/10.1093/database/bay147
Islamaj Dogan, Rezarta, et al. "Overview of the BioCreative VI Precision Medicine Track: mining protein interactions and mutations for precision medicine." Database : the journal of biological databases and curation vol. 2019 (2019). doi: https://doi.org/10.1093/database/bay147
Islamaj Dogan R, Kim S, Chatr-Aryamontri A, Wei CH, Comeau DC, Antunes R, Matos S, Chen Q, Elangovan A, Panyam NC, Verspoor K, Liu H, Wang Y, Liu Z, Altinel B, Hüsünbeyi ZM, Özgür A, Fergadis A, Wang CK, Dai HJ, Tran T, Kavuluru R, Luo L, Steppi A, Zhang J, Qu J, Lu Z. Overview of the BioCreative VI Precision Medicine Track: mining protein interactions and mutations for precision medicine. Database (Oxford). 2019 Jan 01;2019. doi: 10.1093/database/bay147. PMID: 30689846; PMCID: PMC6348314.
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Showing 1 to 12 of 32 entries