Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

(2009) Katrina Tatton-Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

PTEN hamartoma tumor syndromes

(2008) Gideon M Blumenthal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genotype-phenotype correlations in MYCN-related Feingold syndrome

(2008) Carlo L.M. Marcelis et al.   HUMAN MUTATION

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS