[HTML][HTML] Diagnosis and management of Silver–Russell syndrome: first international consensus statement
EL Wakeling, F Brioude, O Lokulo-Sodipe… - Nature Reviews …, 2017 - nature.com
Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …
investigation and management of patients with Silver–Russell syndrome (SRS), an …
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
Y Ioannides, K Lokulo-Sodipe, DJG Mackay… - Journal of medical …, 2014 - jmg.bmj.com
Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of
chromosome 14, paternal deletions and loss of methylation at the intergenic differentially …
chromosome 14, paternal deletions and loss of methylation at the intergenic differentially …
Vitamin D and skeletal health in infancy and childhood
During growth, severe vitamin D deficiency in childhood can result in symptomatic
hypocalcaemia and rickets. Despite the suggestion from some studies of a secular increase …
hypocalcaemia and rickets. Despite the suggestion from some studies of a secular increase …
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy
F Rutsch, P Böyer, Y Nitschke, N Ruf… - Circulation …, 2008 - Am Heart Assoc
Background—Generalized arterial calcification of infancy has been reported to be frequently
lethal, and the efficiency of any therapy, including bisphosphonates, is unknown. A …
lethal, and the efficiency of any therapy, including bisphosphonates, is unknown. A …
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ
AK Nicholas, EG Serra, H Cangul… - The Journal of …, 2016 - academic.oup.com
Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital
hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS) …
hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS) …
[HTML][HTML] Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
CLS Turner, DM Mackay, JLA Callaway… - European Journal of …, 2010 - nature.com
This study was an investigation of 79 patients referred to the Wessex Regional Genetics
Laboratory with suspected Russell–Silver Syndrome or unexplained short stature/intra …
Laboratory with suspected Russell–Silver Syndrome or unexplained short stature/intra …
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki… - Nature …, 2017 - nature.com
Deadenylases are best known for degrading the poly (A) tail during mRNA decay. The
deadenylase family has expanded throughout evolution and, in mammals, consists of 12 …
deadenylase family has expanded throughout evolution and, in mammals, consists of 12 …
Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years' experience in the UK
F Buonocore, A Maharaj, Y Qamar… - Journal of the …, 2021 - academic.oup.com
Context Although primary adrenal insufficiency (PAI) in children and young people is often
due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur …
due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur …
Maternal antenatal vitamin D status and offspring muscle development: findings from the Southampton Women's Survey
Context: Maternal 25-hydroxyvitamin D [25 (OH) D] status in pregnancy has been associated
with offspring bone development and adiposity. Vitamin D has also been implicated in …
with offspring bone development and adiposity. Vitamin D has also been implicated in …
Management of gonads in adults with androgen insensitivity: an international survey
LJW Tack, E Maris, LHJ Looijenga… - Hormone research in …, 2019 - karger.com
Background: Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are
associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines …
associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines …