Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

(2016) Cristina Dias et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypogammaglobulinemia and impaired antibody response in a child with chromosome 2p15-16.1 microdeletion syndrome

(2015) Katherine M. Ottolini et al.   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

Response to “characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients”

(2015) Luisa Ronzoni et al.   CONGENITAL ANOMALIES

Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients

(2015) Keiko Shimojima et al.   CONGENITAL ANOMALIES

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A

(2015) Tugce B. Balci et al.   European Journal of Medical Genetics

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

(2015) Anindita Basak et al.   JOURNAL OF CLINICAL INVESTIGATION

Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c

(2015) Christoph Wiegreffe et al.   NEURON

Response to “characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients”

(2015) Luisa Ronzoni et al.   CONGENITAL ANOMALIES

Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients

(2015) Keiko Shimojima et al.   CONGENITAL ANOMALIES

De novo microdeletion ofBCL11Ais associated with severe speech sound disorder

(2014) Beate Peter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

(2014) Madeleine Fannemel et al.   European Journal of Medical Genetics

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

(2014) Carolina J. Jorgez et al.   PLoS One

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

(2013) Joyce M.G. Florisson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A patient with de novo 0.45 Mb deletion of 2p16.1: The role ofBCL11A,PAPOLG,REL, andFLJ16341in the 2p15-p16.1 microdeletion syndrome

(2013) Miroslava Hancarova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy

(2013) Cigall Kadoch et al.   NATURE GENETICS

Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development

(2012) A. John et al.   DEVELOPMENT

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

(2012) Vishwanathan Hucthagowder et al.   European Journal of Medical Genetics

Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation

(2012) Maria Piccione et al.   European Journal of Medical Genetics

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Deletion 2p15-16.1 syndrome: Case report and review

(2011) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic spectrum associated with CASK loss-of-function mutations

(2011) U. Moog et al.   JOURNAL OF MEDICAL GENETICS

Further characterization of microdeletion syndrome involving 2p15-p16.1

(2010) Têmis Maria Félix et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuroradiologic Features ofCASKMutations

(2010) J. Takanashi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion

(2009) J-S Liang et al.   JOURNAL OF MEDICAL GENETICS

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS