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Items: 1 to 20 of 53

1.

Comparison of programs for in silico assessment of missense substitutions.

Tavtigian SV.

Hum Mutat. 2011 Jun;32(6):v. doi: 10.1002/humu.21532. No abstract available.

PMID:
21618348
2.

Optimization of industrial bacterial strains via mutation analysis: a high-throughput DNA sequencing and bioinformatic approach.

Brett D, Droege M, Weber-Lehmann J.

IEEE Eng Med Biol Mag. 2004 Jul-Aug;23(4):74-6. Review. No abstract available.

PMID:
15508388
3.

Electronic access to sequence alignments, experimental results, and human mutations as an aid to studying globin gene regulation.

Hardison R, Riemer C, Chui DH, Huisman TH, Miller W.

Genomics. 1998 Feb 1;47(3):429-37. No abstract available.

PMID:
9480762
4.

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.

Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV.

Nucleic Acids Res. 2006 Mar 6;34(5):1317-25.

5.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.

Hum Mutat. 2004 Nov;24(5):370-80.

PMID:
15459959
6.
7.

An analysis of unclassified missense substitutions in human BRCA1.

Tavtigian SV, Samollow PB, de Silva D, Thomas A.

Fam Cancer. 2006;5(1):77-88.

PMID:
16528611
8.

A de novo missense mutation in the keratin 13 gene in oral white sponge naevus.

Nishizawa A, Nakajima R, Nakano H, Sawamura D, Takayama K, Satoh T, Yokozeki H.

Br J Dermatol. 2008 Sep;159(4):974-5. doi: 10.1111/j.1365-2133.2008.08716.x. No abstract available.

PMID:
18616775
9.

Automated splicing mutation analysis by information theory.

Nalla VK, Rogan PK.

Hum Mutat. 2005 Apr;25(4):334-42. Erratum in: Hum Mutat. 2008 Sep;29(9): 1168.

PMID:
15776446
10.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP.

Hum Mutat. 2009 May;30(5):734-40. doi: 10.1002/humu.20908.

PMID:
19306334
12.
13.
14.

SEAN: SNP prediction and display program utilizing EST sequence clusters.

Huntley D, Baldo A, Johri S, Sergot M.

Bioinformatics. 2006 Feb 15;22(4):495-6.

PMID:
16357032
15.

Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.

Fendri-Kriaa N, Mkaouar-Rebai E, Moalla D, Belguith N, Louhichi N, Zemni R, Slama F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation..

J Child Neurol. 2010 Aug;25(8):1042-6. doi: 10.1177/0883073809356353.

PMID:
20631224
16.

Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure.

Prakash GJ, Ravi Kanth VV, Shelling AN, Rozati R, Sujatha M.

Fertil Steril. 2010 Jun;94(1):90-8. doi: 10.1016/j.fertnstert.2009.02.014.

PMID:
19324345
17.

In silico identification of significant detrimental missense mutations of EGFR and their effect with 4-anilinoquinazoline-based drugs.

Rajasekaran R, Sethumadhavan R.

Appl Biochem Biotechnol. 2010 Mar;160(6):1723-33. doi: 10.1007/s12010-009-8662-4.

PMID:
19455431
18.

[Evaluation of performance of five bioinformatics software for the prediction of missense mutations].

Chen Q, Dai C, Zhang Q, Du J, Li W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):625-8. doi: 10.3760/cma.j.issn.1003-9406.2016.05.009. Chinese.

PMID:
27577208
19.

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