Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

Examining long-term outcomes of bladder exstrophy: a 20-year follow-up

(2013) Angela D. Gupta et al.   BJU INTERNATIONAL

KPT-330 inhibitor of CRM1 (XPO1)-mediated nuclear export has selective anti-leukaemic activity in preclinical models of T-cell acute lymphoblastic leukaemia and acute myeloid leukaemia

(2013) Julia Etchin et al.   BRITISH JOURNAL OF HAEMATOLOGY

Negative regulation of NF-κB signaling in T lymphocytes by the ubiquitin-specific protease USP34

(2013) Konstantinos Poalas et al.   Cell Communication and Signaling

Gene dosage of Otx2 is important for fertility in male mice

(2013) Rachel Larder et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Genetic Susceptibility Loci, Pesticide Exposure and Prostate Cancer Risk

(2013) Stella Koutros et al.   PLoS One

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

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

(2012) Miroslava Hancarova et al.   GENE

Deletion 2p15-16.1 syndrome: Case report and review

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

The GUDMAP database - an online resource for genitourinary research

(2011) S. D. Harding et al.   DEVELOPMENT

2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

(2011) Xudong Liu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prenatal environmental risk factors for genital malformations in a population of 1442 French male newborns: a nested case-control study

(2011) L. Gaspari et al.   HUMAN REPRODUCTION

Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions

(2011) Carolina J. Jorgez et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

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

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

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Genetics of congenital anomalies of the kidney and urinary tract

(2010) Renfang Song et al.   PEDIATRIC NEPHROLOGY

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

(2010) Mounia Tannour-Louet et al.   PLoS One

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

Risk factors for undescended testis

(2010) Marijn M. Brouwers et al.   Journal of Pediatric Urology

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

(2009) BC Ballif et al.   CLINICAL GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR 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

Long-term follow-up of male patients after reconstruction of the bladder–exstrophy–epispadias complex: Psychosocial status, continence, renal and genital function

(2009) Anne K. Ebert et al.   Journal of Pediatric Urology

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

(2009) Ryan N Traylor et al.   Molecular Cytogenetics

Vesicoureteral Reflux

(2008) G. Williams et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

GUDMAP: The Genitourinary Developmental Molecular Anatomy Project

(2008) A. P. McMahon et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY