Position effect modifying gene expression in a patient with ring chromosome 14

Telomere shortening and telomere position effect in mild ring 17 syndrome

(2014) Cecilia Surace et al.   Epigenetics & Chromatin

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

(2012) Palma Finelli et al.   Molecular Cytogenetics

Mechanisms of ring chromosome formation, ring instability and clinical consequences

(2011) Roberta S Guilherme et al.   BMC Medical Genetics

Gene positioning and expression

(2011) Defne Egecioglu et al.   CURRENT OPINION IN CELL BIOLOGY

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14

(2010) Roberta Santos Guilherme et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations

(2010) Louise Harewood et al.   PLoS One

The ring 14 syndrome: Clinical and molecular definition

(2009) Marcella Zollino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ring 14 chromosome presenting as early-onset isolated partial epilepsy

(2009) DOROTHÉE VILLE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

(2008) Dries Castermans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy number ofFCGR3B,which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

(2008) Lisa C. Willcocks et al.   JOURNAL OF EXPERIMENTAL MEDICINE