De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity

Lymphocytes of Patients with Alzheimer’s Disease Display Different DNA Damage Repair Kinetics and Expression Profiles of DNA Repair and Stress Response Genes

(2013) Giovana Leandro et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability

(2012) Charles Coutton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism

(2012) Elga Fabia Belligni et al.   European Journal of Medical Genetics

Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

(2011) Kenji Kurosawa et al.   CONGENITAL ANOMALIES

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes

(2010) Adam Shlien et al.   AMERICAN JOURNAL OF HUMAN GENETICS

17p13.1 microdeletion involving theTP53gene in a boy presenting with mental retardation but no tumor

(2010) Caroline Schluth-Bolard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

(2010) Yuta Komoike et al.   JOURNAL OF HUMAN GENETICS

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Blinded by the Light: The Growing Complexity of p53

(2009) Karen H. Vousden et al.   CELL

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

(2009) A.C.V. Krepischi-Santos et al.   CYTOGENETIC AND GENOME RESEARCH