Silver–Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients

(2013) Fumiko Kato et al.   CLINICAL ENDOCRINOLOGY

Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders

(2013) Hidenobu Soejima et al.   JOURNAL OF HUMAN GENETICS

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

(2013) F Brioude et al.   JOURNAL OF MEDICAL GENETICS

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

(2013) Tomoko Fuke et al.   PLoS One

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

(2012) Valerie A Arboleda et al.   NATURE GENETICS

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome

(2011) Adriano Bonaldi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

(2011) Nicoletta Chiesa et al.   HUMAN MOLECULAR GENETICS

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region

(2010) Thomas Eggermann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Russell-Silver syndrome

(2010) Thomas Eggermann   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

(2009) J. Bliek et al.   European Journal of Medical Genetics

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

(2009) Laura Cardarelli et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype

(2008) Sarah T. South et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A