Related references
Note: Only part of the references are listed.Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction
Walid Abi Habib et al.
GENETICS IN MEDICINE (2018)
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
David Monk et al.
EPIGENETICS (2018)
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features
J. Sachwitz et al.
CLINICAL GENETICS (2017)
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome
Walid Abi Habib et al.
HUMAN MUTATION (2017)
Diagnosis and management of Silver-Russell syndrome: first international consensus statement
Emma L. Wakeling et al.
NATURE REVIEWS ENDOCRINOLOGY (2017)
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
Jasmin Beygo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly
Kaori Yamoto et al.
HUMAN MUTATION (2017)
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects
Takanobu Inoue et al.
CLINICAL EPIGENETICS (2017)
Microdeletions of the 7q32.2 Imprinted Region Are Associated with Silver-Russell Syndrome Features
Ignacio Arroyo Carrera et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome
Katja Eggermann et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Johan T. den Dunnen et al.
HUMAN MUTATION (2016)
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype
Agostina De Crescenzo et al.
JOURNAL OF HUMAN GENETICS (2015)
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
Salah Azzi et al.
JOURNAL OF MEDICAL GENETICS (2015)
Paternally Inherited IGF2 Mutation and Growth Restriction
Matthias Begemann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
Thomas Eggermann et al.
CLINICAL EPIGENETICS (2015)
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C
Shinichi Nakashima et al.
JOURNAL OF HUMAN GENETICS (2015)
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature
Lindsay A. Brown et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome
Siv Fokstuen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Isolated hypermethylation of GRB10 ( 7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion
T. Eggermann et al.
CLINICAL GENETICS (2014)
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
Thomas Eggermann et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2014)
Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11
Jie Hu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
Agostina De Crescenzo et al.
JOURNAL OF MEDICAL GENETICS (2013)
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
F. Brioude et al.
JOURNAL OF MEDICAL GENETICS (2013)
Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
Renuka P. Dias et al.
JOURNAL OF MEDICAL GENETICS (2013)
Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome
Tomoko Fuke et al.
PLOS ONE (2013)
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome
S. Spengler et al.
MOLECULAR SYNDROMOLOGY (2013)
17p13.1 Microduplication in a Boy With Silver-Russell Syndrome Features and Intellectual disability
Charles Coutton et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
12q14 Microdeletion Syndrome and Short Stature With or Without Relative Macrocephaly
Toshiki Takenouchi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features
T. Eggermann et al.
CLINICAL GENETICS (2012)
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
Nicoletta Chiesa et al.
HUMAN MOLECULAR GENETICS (2012)
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
Matthias Begemann et al.
JOURNAL OF MEDICAL GENETICS (2012)
Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features
Sabrina Spengler et al.
JOURNAL OF PEDIATRICS (2012)
Microduplication of the ICR2 Domain at Chromosome 11p15 and Familial Silver-Russell Syndrome
Adriano Bonaldi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
New Insights into the Pathogenesis of Beckwith-Wiedemann and Silver-Russell Syndromes: Contribution of Small Copy Number Variations to 11p15 Imprinting Defects
Julie Demars et al.
HUMAN MUTATION (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation
Karen Gronskov et al.
JOURNAL OF MEDICAL GENETICS (2011)
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)
M. L. Ramírez-Dueñas et al.
CLINICAL GENETICS (2010)
Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
Alina T. Midro et al.
CLINICAL GENETICS (2010)
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
S. Spengler et al.
JOURNAL OF MEDICAL GENETICS (2010)
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients
Sara Bruce et al.
JOURNAL OF MEDICAL GENETICS (2010)
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family
Laura Cardarelli et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2010)
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
D. Bartholdi et al.
JOURNAL OF MEDICAL GENETICS (2009)
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
Sarah T. South et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Severe Intrauterine Growth Retardation and Atypical Diabetes Associated with a Translocation Breakpoint Disrupting Regulation of the Insulin-Like Growth Factor 2 Gene
R. Murphy et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic-phenotypic correlations
Irene Netchine et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome
Nadine Schoenherr et al.
JOURNAL OF MEDICAL GENETICS (2007)
Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face
T Eggermann et al.
CLINICAL DYSMORPHOLOGY (2006)
Is maternal duplication of 11p15 associated with Silver-Russell syndrome? -: art. no. e26
T Eggermann et al.
JOURNAL OF MEDICAL GENETICS (2005)
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region
D Monk et al.
HUMAN GENETICS (2002)
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
AM Fisher et al.
HUMAN GENETICS (2002)
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome
K Nakabayashi et al.
GENOMICS (2002)
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
D Monk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Share Paper
