Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Monk D(2019)Genomic imprinting disorders: lessons on how genome, epigenome and environment interact Nat Rev Genet 20 235-248

Mackay DJG(2016)Causes and consequences of multi-locus imprinting disturbances in humans Trends Genet 32 444-455

Eggermann T(2018)Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement Nat Rev Endocrinol 14 476-500

Maher ER(2016)From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network Eur J Endocrinol 175 P1-P17

Riccio A(2016)The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network J Clin Endocrinol Metab 101 3657-3668

Sanchez-Delgado M(2012)Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus J Clin Endocrinol Metab 97 E1060-1067

Riccio A(2013)Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes Hum Mutat 34 595-602

Eggermann T(2013)Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b Hum Mutat 34 1172-1180

Maher ER(2016)Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects Clin Epigenet 8 10-619

Lapunzina P(2009)Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome Eur J Hum Genet 17 611-3966

Monk D(2019)Genomic imprinting disorders: lessons on how genome, epigenome and environment interact Nat Rev Genet 20 235-248

Mackay DJG(2016)Causes and consequences of multi-locus imprinting disturbances in humans Trends Genet 32 444-455

Eggermann T(2018)Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement Nat Rev Endocrinol 14 476-500

Maher ER(2016)From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network Eur J Endocrinol 175 P1-P17

Riccio A(2016)The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network J Clin Endocrinol Metab 101 3657-3668

Sanchez-Delgado M(2012)Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus J Clin Endocrinol Metab 97 E1060-1067

Riccio A(2013)Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes Hum Mutat 34 595-602

Eggermann T(2013)Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b Hum Mutat 34 1172-1180

Maher ER(2016)Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects Clin Epigenet 8 10-619

Lapunzina P(2009)Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome Eur J Hum Genet 17 611-3966