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

Understanding XPO1 Target Networks Using Systems Biology and Mathematical Modeling

(2014) Irfana Muqbil et al.   CURRENT PHARMACEUTICAL DESIGN

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

New microdeletion and microduplication syndromes: a comprehensive review

(2014) Julián Nevado et al.   GENETICS AND MOLECULAR BIOLOGY

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

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

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

(2012) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

Nuclear pore complex composition: a new regulator of tissue-specific and developmental functions

(2012) Marcela Raices et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Deletion 2p15-16.1 syndrome: Case report and review

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

The Ubiquitin-Specific Protease USP34 Regulates Axin Stability and Wnt/ -Catenin Signaling

(2011) T. T. H. Lui et al.   MOLECULAR AND CELLULAR BIOLOGY

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

(2010) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

(2010) Eva Wohlleber et al.   European Journal of Medical Genetics

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