Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay

(2014) Pankaj Prasun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions includingTRPM1: A differential diagnosis of ceroid lipofuscinosis

(2014) Alice Masurel-Paulet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prenatal Genetic Testing With Chromosomal Microarray Analysis Identifies Major Risk Variants for Schizophrenia and Other Later-Onset Disorders

(2013) Gregory Costain et al.   AMERICAN JOURNAL OF PSYCHIATRY

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

(2013) G. Costain et al.   HUMAN MOLECULAR GENETICS

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

(2013) I. Ionita-Laza et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prevalence of placenta praevia by world region: a systematic review and meta-analysis

(2013) Jenny A. Cresswell et al.   TROPICAL MEDICINE & INTERNATIONAL HEALTH

Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test: results from over 1000 consecutive cases

(2013) F. Scott et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

The Reproductive Phenotype of Mice Null for Transcription Factor Krüppel-Like Factor 13 Suggests Compensatory Function of Family Member Krüppel-Like Factor 9 in the Peri-Implantation Uterus1

(2012) Melissa E. Heard et al.   BIOLOGY OF REPRODUCTION

Identification of single gene deletions at 15q13.3: further evidence thatCHRNA7causes the 15q13.3 microdeletion syndrome phenotype

(2012) N Hoppman-Chaney et al.   CLINICAL GENETICS

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities

(2012) Francesco Fiorentino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

1q21.1 Microduplication expression in adults

(2012) Alessia Dolcetti et al.   GENETICS IN MEDICINE

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Abnormal Placentation

(2012) Kiran Prabhaker Rao et al.   OBSTETRICAL & GYNECOLOGICAL SURVEY

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

(2012) Candice K. Silversides et al.   PLoS Genetics

miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome

(2012) Linda M. Brzustowicz et al.   Frontiers in Genetics

The Emerging Role of microRNAs in Schizophrenia and Autism Spectrum Disorders

(2012) Nikolaos Mellios et al.   Frontiers in Psychiatry

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

(2011) Jun Liao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Parental Origin, DNA Structure, and the Schizophrenia Spectrum

(2011) Anne S. Bassett   AMERICAN JOURNAL OF PSYCHIATRY

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

(2011) Malte Spielmann et al.   European Journal of Medical Genetics

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions

(2011) G. Costain et al.   JOURNAL OF MEDICAL GENETICS

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Functional Differentiation of Uterine Stromal Cells Involves Cross-Regulation between Bone Morphogenetic Protein 2 and Krüppel-Like Factor (KLF) Family Members KLF9 and KLF13

(2010) John Mark P. Pabona et al.   ENDOCRINOLOGY

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2009) Isabelle Audo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease

(2008) Wai Lun Alan Fung et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS