19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

A novel microdeletion/microduplication syndrome of 19p13.13

(2010) Michelle Dolan et al.   GENETICS IN MEDICINE

Genome-Wide SNP Array Analysis in Patients with Features of Sotos Syndrome

(2010) Remco Visser et al.   Hormone Research in Paediatrics

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion

(2009) Helle Lybæk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Low early-life social class leaves a biological residue manifested by decreased glucocorticoid and increased proinflammatory signaling

(2009) G. E. Miller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

(2008) M. Bauters et al.   GENOME RESEARCH

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

(2008) B. Chanda et al.   HUMAN MOLECULAR GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE