Literature DB >> 11241845

Low level mosaicism detectable by DHPLC but not by direct sequencing.

A C Jones, J R Sampson, J P Cheadle.   

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Year:  2001        PMID： 11241845     DOI： 10.1002/humu.8

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  8 in total

1.  Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

Authors:  B Yu; N A Sawyer; M Caramins; Z G Yuan; R B Saunderson; R Pamphlett; D R Richmond; R W Jeremy; R J Trent
Journal:  J Clin Pathol       Date:  2005-05       Impact factor: 3.411

2.  The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Authors:  Stephen R F Twigg; Kazuya Matsumoto; Alexa M J Kidd; Anne Goriely; Indira B Taylor; Richard B Fisher; A Jeannette M Hoogeboom; Irene M J Mathijssen; M Teresa Lourenco; Jenny E V Morton; Elizabeth Sweeney; Louise C Wilson; Han G Brunner; John B Mulliken; Steven A Wall; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2006-04-28       Impact factor: 11.025

Review 3.  Clonal diversity in carcinomas: its implications for tumour progression and the contribution made to it by epithelial-mesenchymal transitions.

Authors:  J Guy Lyons; Erwin Lobo; Anna M Martorana; Mary R Myerscough
Journal:  Clin Exp Metastasis       Date:  2007-12-11       Impact factor: 5.150

4.  Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

Authors:  Wei Qin; Piotr Kozlowski; Bruce E Taillon; Pascal Bouffard; Alison J Holmes; Pasi Janne; Susana Camposano; Elizabeth Thiele; David Franz; David J Kwiatkowski
Journal:  Hum Genet       Date:  2010-02-18       Impact factor: 4.132

5.  High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

Authors:  Astrid A Out; Ivonne J H M van Minderhout; Nienke van der Stoep; Lysette S R van Bommel; Irma Kluijt; Cora Aalfs; Marsha Voorendt; Rolf H A M Vossen; Maartje Nielsen; Hans F A Vasen; Hans Morreau; Peter Devilee; Carli M J Tops; Frederik J Hes
Journal:  Fam Cancer       Date:  2015-06       Impact factor: 2.375

6.  Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Authors:  Xiaojing Xu; Xiaoxu Yang; Qixi Wu; Aijie Liu; Xiaoling Yang; Adam Yongxin Ye; August Yue Huang; Jiarui Li; Meng Wang; Zhe Yu; Sheng Wang; Zhichao Zhang; Xiru Wu; Liping Wei; Yuehua Zhang
Journal:  Hum Mutat       Date:  2015-07-24       Impact factor: 4.878

7.  A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations.

Authors:  Adam Yongxin Ye; Yanmei Dou; Xiaoxu Yang; Sheng Wang; August Yue Huang; Liping Wei
Journal:  Genome Res       Date:  2018-06-06       Impact factor: 9.438

8.  Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Authors:  Magdalena E Tyburczy; Kira A Dies; Jennifer Glass; Susana Camposano; Yvonne Chekaluk; Aaron R Thorner; Ling Lin; Darcy Krueger; David N Franz; Elizabeth A Thiele; Mustafa Sahin; David J Kwiatkowski
Journal:  PLoS Genet       Date:  2015-11-05       Impact factor: 5.917
  8 in total

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