Jacobsen Syndrome and Beckwith-Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2006.00271.x/fullpdf
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1. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
2. Detecting rearrangements in children using subtelomeric FISH and SKY
3. The 11q terminal deletion disorder: A prospective study of 110 cases
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1. Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion;Clinical Dysmorphology;2024-05-29
2. Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization;Genes;2021-07-31
3. Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion;Laboratory Medicine Online;2020-07-01
4. Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy;American Journal of Medical Genetics Part A;2013-01-15
5. New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects;Human Mutation;2011-09-08
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