Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6

Monosomy 21q: two cases of del(21q) and review of the literature

(2010) J.-L. Huret et al.   CLINICAL GENETICS

Detailed molecular and clinical characterization of three patients with 21q deletions

(2009) A Lindstrand et al.   CLINICAL GENETICS

TULIP1 (RALGAPA1) haploinsufficiency with brain development delay

(2009) Keiko Shimojima et al.   GENOMICS

Molecular genetic analysis of Down syndrome

(2009) David Patterson   HUMAN GENETICS

Down syndrome--recent progress and future prospects

(2009) F. K. Wiseman et al.   HUMAN MOLECULAR GENETICS

DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome

(2009) Aude-Marie Lepagnol-Bestel et al.   HUMAN MOLECULAR GENETICS

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

(2009) J. O. Korbel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome

(2008) Claudia Canzonetta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

(2008) Rikke S. Møller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q

(2008) M. Shinawi et al.   BLOOD

Down syndrome and the genes of human chromosome 21: current knowledge and future potentials

(2008) M. Pritchard et al.   CYTOGENETIC AND GENOME RESEARCH

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

(2008) Robert Lyle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

(2008) Mylène Béri-Dexheimer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Behavioral characterization of mice lacking GIRK/Kir3 channel subunits

(2008) M. Pravetoni et al.   GENES BRAIN AND BEHAVIOR

Altered heart rate control in transgenic mice carrying the KCNJ6 gene of the human chromosome 21

(2008) Jacques M. Lignon et al.   PHYSIOLOGICAL GENOMICS