Related references
Note: Only part of the references are listed.CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
F. Brioude et al.
JOURNAL OF MEDICAL GENETICS (2013)
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction
Fadel Alyaqoub 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)
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)
Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes
Darya Gorbenko Del Blanco et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2011)
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
Sally Ann Lynch et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
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)
Epigenoty-pephenotype correlations in Silver-Russell syndrome
E. L. Wakeling et al.
JOURNAL OF MEDICAL GENETICS (2010)
The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height
Karen Buysse et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
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)
Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation
Thomas Eggermann et al.
PEDIATRICS (2009)
The genetic aetiology of Silver-Russell syndrome
S. Abu-Amero et al.
JOURNAL OF MEDICAL GENETICS (2008)
A common variant of HMGA2 is associated with adult and childhood height in the general population
Michael N. Weedon et al.
NATURE GENETICS (2007)
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)
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Bjorn Menten et al.
JOURNAL OF MEDICAL GENETICS (2007)
Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing
Gopal Singh et al.
BIOTECHNIQUES (2006)
Constitutional rearrangement of the architectural factor HMGA2:: A novel human phenotype including overgrowth and lipomas
AH Ligon et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)