Literature DB >> 7969285

The importance of genetic mosaicism in human disease.

A Bernards, J F Gusella.   

Abstract

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Year:  1994        PMID： 7969285     DOI： 10.1056/NEJM199411243312110

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  7 in total

1.  Clusters of identical new mutation in the evolutionary landscape.

Authors:  R C Woodruff; H Huai; J N Thompson
Journal:  Genetica       Date:  1996-10       Impact factor: 1.082

Review 2.  A perspective on the evolution of germ-cell development and germinal mosaics of deleterious mutations.

Authors:  Ronny C Woodruff; Michael A Balinski; Juan L Bouzat
Journal:  Genetica       Date:  2015-06-26       Impact factor: 1.082

3.  Clinical signs of mosaicism.

Authors:  K Méhes; G Kosztolányi
Journal:  Eur J Pediatr       Date:  1995-08       Impact factor: 3.183

4.  Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.

Authors:  Eduardo Fernandez-Rebollo; Beatriz García-Cuartero; Intza Garin; Cristina Largo; Francisco Martínez; Concepcion Garcia-Lacalle; Luis Castaño; Murat Bastepe; Guiomar Pérez de Nanclares
Journal:  J Clin Endocrinol Metab       Date:  2009-12-11       Impact factor: 5.958

5.  Somatic mosaicism in a patient with neurofibromatosis type 1.

Authors:  S D Colman; S A Rasmussen; V T Ho; C R Abernathy; M R Wallace
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

6.  Phenomics-Based Quantification of CRISPR-Induced Mosaicism in Zebrafish.

Authors:  Claire J Watson; Adrian T Monstad-Rios; Rehaan M Bhimani; Charlotte Gistelinck; Andy Willaert; Paul Coucke; Yi-Hsiang Hsu; Ronald Y Kwon
Journal:  Cell Syst       Date:  2020-03-18       Impact factor: 10.304

7.  Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.

Authors:  Pamela Poblete-Gutiérrez; Tonio Wiederholt; Arne König; Frank K Jugert; Yvonne Marquardt; Albert Rübben; Hans F Merk; Rudolf Happle; Jorge Frank
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808
  7 in total

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