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

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

(2012) Matthias Begemann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mosaic upd(7)mat in a patient with Silver-Russell syndrome

(2012) Tomoko Fuke-Sato et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

(2012) Hitoshi Hiura et al.   HUMAN REPRODUCTION

Aplasia ras homolog member I is downregulated in gastric cancer and silencing its expression promotes cell growth in vitro

(2012) Hai-Ling Tang et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

Silver–Russell syndrome

(2011) Gerhard Binder et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors

(2011) Keiko Matsubara et al.   JOURNAL OF HUMAN GENETICS

In Embryonic Stem Cells, ZFP57/KAP1 Recognize a Methylated Hexanucleotide to Affect Chromatin and DNA Methylation of Imprinting Control Regions

(2011) Simon Quenneville et al.   MOLECULAR CELL

Russell-Silver syndrome

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

Uniparental disomy and human disease: An overview

(2010) Kazuki Yamazawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

(2010) Alina T. Midro et al.   CLINICAL GENETICS

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

(2010) Claire Louise Susan Turner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes

(2010) Kazuki Yamazawa et al.   JOURNAL OF HUMAN GENETICS

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

(2010) K. Yamazawa et al.   JOURNAL OF MEDICAL GENETICS

Epigenotype-phenotype correlations in Silver-Russell syndrome

(2010) E. L. Wakeling et al.   JOURNAL OF MEDICAL GENETICS

Segmental maternal UPD(7q) in Silver-Russell syndrome

(2009) T Eggermann et al.   CLINICAL GENETICS

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

(2009) Salah Azzi et al.   HUMAN MOLECULAR GENETICS

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome

(2009) S. Spengler et al.   JOURNAL OF MEDICAL GENETICS

Placental hypoplasia in maternal uniparental disomy for chromosome 7

(2008) Kazuki Yamazawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Imprinted tumor suppressor genesARHI andPEG3 are the most frequently down-regulated in human ovarian cancers by loss of heterozygosity and promoter methylation

(2008) Weiwei Feng et al.   CANCER

Maternal uniparental disomy 7 and Silver–Russell syndrome – Clinical update and comparison with other subgroups

(2008) Dieter Kotzot   European Journal of Medical Genetics

A 2.3Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’

(2008) Moira Blyth et al.   European Journal of Medical Genetics

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas

(2008) Kazuki Yamazawa et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

ARHI, as a novel suppressor of cell growth and downregulated in human hepatocellular carcinoma, could contribute to hepatocarcinogenesis

(2008) Jian Huang et al.   MOLECULAR CARCINOGENESIS

Placentomegaly in Paternal Uniparental Disomy for Human Chromosome 14

(2008) M. Kagami et al.   PLACENTA