CDKN1Cmutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

A novel mutation inCDKN1Cin sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

(2012) Piranit Nik Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

(2012) Agostina De Crescenzo et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

(2012) Valerie A Arboleda et al.   NATURE GENETICS

Epigenetic and Genetic Mechanisms of Abnormal 11p15 Genomic Imprinting in Silver-Russell and Beckwith-Wiedemann Syndromes

(2011) J. Demars et al.   CURRENT MEDICINAL CHEMISTRY

New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

(2011) Julie Demars et al.   HUMAN MUTATION

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

(2011) K. Gronskov et al.   JOURNAL OF MEDICAL GENETICS

IMAGe syndrome: Case report with a previously unreported feature and review of published literature

(2010) Meena Balasubramanian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

(2010) Salah Azzi et al.   HUMAN MUTATION

Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures

(2009) Thomas Eggermann   Hormone Research in Paediatrics

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

(2009) Julie Demars et al.   HUMAN MOLECULAR GENETICS