Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome

17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature

(2013) Lucio Giordano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

(2012) Susan Zeesman 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

PSD-95 is post-transcriptionally repressed during early neural development by PTBP1 and PTBP2

(2012) Sika Zheng et al.   NATURE NEUROSCIENCE

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

Genetic and Functional Analysis of the DLG4 Gene Encoding the Post-Synaptic Density Protein 95 in Schizophrenia

(2010) Min-Chih Cheng et al.   PLoS One

Elements of morphology: Standard terminology for the head and face

(2009) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing

(2009) T Schwarzbraun et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay

(2008) Margaret P. Adam et al.   JOURNAL OF PEDIATRICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS