FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset

Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression ofCDKN1Cin a child with Russell-Silver syndrome

(2015) Yuan Xue et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FGFR3 mutation causes abnormal membranous ossification in achondroplasia

(2014) Federico Di Rocco et al.   HUMAN MOLECULAR GENETICS

Developmental Programming Mediated by Complementary Roles of Imprinted Grb10 in Mother and Pup

(2014) Michael Cowley et al.   PLOS BIOLOGY

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7

(2013) Katariina Hannula-Jouppi et al.   Epigenetics

Growth Factor Receptor-Bound Protein 10-Mediated Negative Regulation of the Insulin-Like Growth Factor-1 Receptor-Activated Signalling Pathway Results in Cognitive Disorder in Diabetic Rats

(2013) L. Ma et al.   JOURNAL OF NEUROENDOCRINOLOGY

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affectingGRB10

(2012) Thomas Eggermann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Development in children with achondroplasia: a prospective clinical cohort study

(2012) PENELOPE J IRELAND et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Rapid Detection of G1138A and G1138C Mutations of the FGFR3 Gene in Patients with Achondroplasia Using High-Resolution Melting Analysis

(2012) Xiang He et al.   Genetic Testing and Molecular Biomarkers

Multiple Segmental Uniparental Disomy Associated with Abnormal DNA Methylation of Imprinted Loci in Silver-Russell Syndrome

(2012) Renuka P. Dias et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

PEGylation enhances the therapeutic potential for insulin-like growth factor I in central nervous system disorders

(2011) S. Saenger et al.   GROWTH HORMONE & IGF RESEARCH

Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation

(2009) Hirosuke Shiura et al.   HUMAN MOLECULAR GENETICS

Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression

(2009) David Monk et al.   HUMAN MOLECULAR GENETICS