Literature DB >> 19208103

Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents.

Shinji Kunishima, Kazutaka Takaki, Yoshimi Ito, Hidehiko Saito.   

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Year:  2009        PMID： 19208103     DOI： 10.1111/j.1365-2141.2009.07584.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  5 in total

Review 1.  MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

Authors:  Alessandro Pecci; Xuefei Ma; Anna Savoia; Robert S Adelstein
Journal:  Gene       Date:  2018-04-19       Impact factor: 3.688

2.  Renal manifestations of patients with MYH9-related disorders.

Authors:  Kyoung Hee Han; HyunKyung Lee; Hee Gyung Kang; Kyung Chul Moon; Joo Hoon Lee; Young Seo Park; Il Soo Ha; Hyo Seop Ahn; Yong Choi; Hae Il Cheong
Journal:  Pediatr Nephrol       Date:  2011-01-06       Impact factor: 3.714

3.  Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Authors:  Loredana Bury; Karyn Megy; Jonathan C Stephens; Luigi Grassi; Daniel Greene; Nick Gleadall; Karina Althaus; David Allsup; Tadbir K Bariana; Mariana Bonduel; Nora V Butta; Peter Collins; Nicola Curry; Sri V V Deevi; Kate Downes; Daniel Duarte; Kim Elliott; Emanuela Falcinelli; Bruce Furie; David Keeling; Michele P Lambert; Rachel Linger; Sarah Mangles; Rutendo Mapeta; Carolyn M Millar; Christopher Penkett; David J Perry; Kathleen E Stirrups; Ernest Turro; Sarah K Westbury; John Wu; Nihr BioResource; Keith Gomez; Kathleen Freson; Willem H Ouwehand; Paolo Gresele; Ilenia Simeoni
Journal:  Hum Mutat       Date:  2019-10-15       Impact factor: 4.878

4.  Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.

Authors:  Béatrice Saposnik; Sylvie Binard; Odile Fenneteau; Alan Nurden; Paquita Nurden; Marie-Françoise Hurtaud-Roux; Nicole Schlegel
Journal:  Mol Genet Genomic Med       Date:  2014-02-07       Impact factor: 2.183

5.  Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.

Authors:  Courtney B Cook; Linlea Armstrong; Cornelius F Boerkoel; Lorne A Clarke; Christèle du Souich; Michelle K Demos; William T Gibson; Harinder Gill; Elena Lopez; Millan S Patel; Kathryn Selby; Ziad Abu-Sharar; Alison M Elliott; Jan M Friedman
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09
  5 in total

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