Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome. Some imprinting disorders have higher than expected prevalence of monozygotic twinning, of assisted reproductive technology among parents, and of disturbance of multiple imprinted loci, for which few causative trans-acting mutations have been found. Here we report mutations in NLRP5 in five mothers of individuals affected by multilocus imprinting disturbance. Maternal-effect mutations of other human NLRP genes, NLRP7 and NLRP2, cause familial biparental hydatidiform mole and multilocus imprinting disturbance, respectively. Offspring of mothers...
Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inheri...
Familial biparental hydatidiform mole (FBHM) is a maternal-effect autosomal recessive disorder in wh...
NLRP7 is a maternal effect gene as maternal mutations in this gene cause recurrent hydatidiform mole...
Human-imprinting disorders are congenital disorders of growth, development and metabolism, associate...
Human imprinting disorders are congenital disorders of growth, development and metabolism, associate...
Human-imprinting disorders are congenital disorders of growth, development and metabolism, associate...
Background Genomic imprinting results from the resistance of germline epigenetic marks to reprogramm...
Background: A subset of individuals affected by imprinting disorders displays multi-locus imprinting...
Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the ...
Background: Imprinting disorders are a group of congenital diseases which are characterized by molec...
Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from...
BACKGROUND: Imprinting disorders are a group of congenital diseases which are characterized by molec...
Background: Human reproductive issues affecting fetal and maternal health are caused by numerous exo...
<div><p>Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder...
Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually...
Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inheri...
Familial biparental hydatidiform mole (FBHM) is a maternal-effect autosomal recessive disorder in wh...
NLRP7 is a maternal effect gene as maternal mutations in this gene cause recurrent hydatidiform mole...
Human-imprinting disorders are congenital disorders of growth, development and metabolism, associate...
Human imprinting disorders are congenital disorders of growth, development and metabolism, associate...
Human-imprinting disorders are congenital disorders of growth, development and metabolism, associate...
Background Genomic imprinting results from the resistance of germline epigenetic marks to reprogramm...
Background: A subset of individuals affected by imprinting disorders displays multi-locus imprinting...
Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the ...
Background: Imprinting disorders are a group of congenital diseases which are characterized by molec...
Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from...
BACKGROUND: Imprinting disorders are a group of congenital diseases which are characterized by molec...
Background: Human reproductive issues affecting fetal and maternal health are caused by numerous exo...
<div><p>Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder...
Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually...
Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inheri...
Familial biparental hydatidiform mole (FBHM) is a maternal-effect autosomal recessive disorder in wh...
NLRP7 is a maternal effect gene as maternal mutations in this gene cause recurrent hydatidiform mole...