Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

The rate of germline mutations and large deletions ofSMAD4andBMPR1Ain juvenile polyposis

(2009) D Calva-Cerqueira et al.   CLINICAL GENETICS

Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

(2009) Lo��c de Pontual et al.   HUMAN MUTATION

Functional Analysis of a Dominant Negative Mutation of Interferon Regulatory Factor 5

(2009) Long Yang et al.   PLoS One

Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation

(2008) Christina A. Gurnett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of theTCF4gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

(2008) Vera M. Kalscheuer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Smith–Magenis syndrome

(2008) Sarah H Elsea et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

(2008) Joris Andrieux et al.   European Journal of Medical Genetics

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis

(2008) W. A. van Hattem et al.   GUT

TCF4Deletions in Pitt-Hopkins Syndrome

(2008) Irina Giurgea et al.   HUMAN MUTATION

Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

(2008) Maureen A. Su et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups

(2008) Hong Jiao et al.   MOLECULAR IMMUNOLOGY

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics