Related references
Note: Only part of the references are listed.An atypical case of hypomethylation at multiple imprinted loci
Emma L. Baple et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Exclusion of the GNAS Locus in PHP-Ib Patients With Broad GNAS Methylation Changes: Evidence for an Autosomal Recessive Form of PHP-Ib?
Eduardo Fernandez-Rebollo et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2011)
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
Stephanie Maupetit-Mehouas et al.
JOURNAL OF MEDICAL GENETICS (2011)
Distinct physiological and behavioural functions for parental alleles of imprinted Grb10
Alastair S. Garfield et al.
NATURE (2011)
Investigation of 90 Patients Referred for Molecular Cytogenetic Analysis Using aCGH Uncovers Previously Unsuspected Anomalies of Imprinting
Rebecca L. Poole et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Prader-Willi Syndrome and Angelman Syndrome
Karin Buiting
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)
Beckwith-Wiedemann Syndrome
Sanaa Choufani et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
Claire Louise Susan Turner et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib
Branca Maria Cavaco et al.
ENDOCRINE (2010)
Hunting for the 5th base: Techniques for analyzing DNA methylation
Ole Ammerpohl et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2009)
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
Jet Bliek et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
Esther Meyer et al.
PLOS GENETICS (2009)
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
Deborah J. G. Mackay et al.
NATURE GENETICS (2008)
Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth
Annie Varrault et al.
DEVELOPMENTAL CELL (2006)
Regulation of growth and metabolism by imprinted genes
F. M. Smith et al.
CYTOGENETIC AND GENOME RESEARCH (2006)
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS
A Linglart et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
GNAS locus and pseudohypoparathyroidism
M Bastepe et al.
HORMONE RESEARCH (2005)
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties
D Genevieve et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation
K Freson et al.
JOURNAL OF CLINICAL INVESTIGATION (2004)
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia:: New evidence for imprinting of the Gsα gene
G Mantovani et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance
EL Germain-Lee et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
SJ de Beur et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Functional polymorphisms in the paternally expressed XLαs and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation
K Freson et al.
HUMAN MOLECULAR GENETICS (2003)
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism
L de Sanctis et al.
PEDIATRIC RESEARCH (2003)
Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy
MA Aldred et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Pseudo hypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsα deficiency in platelets
K Freson et al.
HUMAN MOLECULAR GENETICS (2002)
G protein mutations in endocrine diseases
A Lania et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2001)
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation
K Freson et al.
BLOOD (2001)
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B:: evidence for a long-range regulatory element within the imprinted GNAS1 locus
M Bastepe et al.
HUMAN MOLECULAR GENETICS (2001)
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: Identification of two novel mutations
G Mantovani et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2000)
Share Paper
