SATB2-associated syndrome presenting with Rett-like phenotypes

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

(2015) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome

(2014) Agne Liedén et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Satb2 Regulates the Differentiation of Both Callosal and Subcerebral Projection Neurons in the Developing Cerebral Cortex

(2014) Dino P. Leone et al.   CEREBRAL CORTEX

Further delineation of the SATB2 phenotype

(2013) Dennis Döcker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

(2012) Dewi Astuti et al.   NATURE GENETICS

A network of genetic repression and derepression specifies projection fates in the developing neocortex

(2012) K. Srinivasan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

(2011) M. Balasubramanian et al.   JOURNAL OF MEDICAL GENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

(2009) Jill Urquhart et al.   European Journal of Medical Genetics

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One

Satb2 Is a Postmitotic Determinant for Upper-Layer Neuron Specification in the Neocortex

(2008) Olga Britanova et al.   NEURON

Satb2 Regulates Callosal Projection Neuron Identity in the Developing Cerebral Cortex

(2008) Elizabeth A. Alcamo et al.   NEURON