New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

(2013) Dezső David et al.   HUMAN GENETICS

Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion

(2012) Nina Pereza et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

(2011) Marjory Rué et al.   European Journal of Medical Genetics

Enhancer-adoption as a mechanism of human developmental disease

(2011) Laura A. Lettice et al.   HUMAN MUTATION

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

lincRNAs act in the circuitry controlling pluripotency and differentiation

(2011) Mitchell Guttman et al.   NATURE

Discovery and characterization of chromatin states for systematic annotation of the human genome

(2010) Jason Ernst et al.   NATURE BIOTECHNOLOGY

Identification of two new mutations inTRPS 1gene leading to the tricho-rhino-phalangeal syndrome type I and III

(2009) Maria Piccione et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)

(2008) Alan L. Shanske et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion withoutTRPS1 deletion

(2008) Jacqueline McBrien et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A