Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes-Reference-Cited by-同舟云学术

Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes

Published:2019-01-30 Issue:5 Volume:27 Page:760-771
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Moysés-Oliveira Mariana,Di-Battista Adriana,Zamariolli Malú,Meloni Vera Ayres,Bragagnolo Silvia,Christofolini Denise Maria,Steiner Carlos Eduardo,Kosyakova Nadezda,Liehr Thomas,Reymond Alexandre,Melaragno Maria Isabel

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0341-5.pdf

Reference39 articles.

1. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991;49:995–1013.

2. Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, et al. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. J Med Genet. 2013;50:144–50.

3. Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G, et al. Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet. 2000;37:858–65.

4. Nilsson D, Pettersson M, Gustavsson P, Forster A, Hofmeister W, Wincent J, et al. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Hum Mutat. 2017;38:180–92.

5. Schmidt M, Du Sart D. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet. 1992;42:161–9.

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