Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33398/fullpdf
Reference9 articles.
1. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?;Eggermann;J Med Genet,2005
2. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome;Eggermann;Clin Genet,2007
3. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation;Fisher;Hum Genet,2002
4. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome;Gicquel;Nat Genet,2005
5. Maternal uniparental disomy 7 and Silver-Russell syndrome-Clinical update and comparison with other subgroups;Kotzot;Eur J Med Genet,2008
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1. Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age;Frontiers in Endocrinology;2022-08-24
2. Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing;Molecular Syndromology;2022-02-04
3. New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing;American Journal of Medical Genetics Part A;2021-05-27
4. Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum;The Journal of Clinical Endocrinology & Metabolism;2020-11-24
5. Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant;Journal of Pediatric Genetics;2020-04-21
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