1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation

De novo Deletion of 1q31.1–q32.1 in a Patient with Developmental Delay and Behavioral Disorders

(2012) D. Milani et al.   CYTOGENETIC AND GENOME RESEARCH

Panhypopituitarism Presenting as Life-Threatening Heart Failure Caused by an Inherited Microdeletion in 1q25 Including LHX4

(2012) I. Filges et al.   PEDIATRICS

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

(2012) Ashutosh Halder et al.   Molecular Cytogenetics

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1

(2010) Graeme Nimmo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

(2010) Akira Nishimura et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel competitive fluorescent multiplex STR polymorphism assay for rapid, reliable and single-tube screening of 22q11.2 copy-number aberrations

(2009) Chi Yang et al.   ELECTROPHORESIS

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1

(2009) Bernard Thienpont et al.   European Journal of Medical Genetics

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

(2008) Maria Descartes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A