Conditional Mutagenesis of Gata6 in SF1-Positive Cells Causes Gonadal-Like Differentiation in the Adrenal Cortex of Mice

M Pihlajoki, E Gretzinger, R Cochran… - …, 2013 - academic.oup.com
Transcription factor GATA6 is expressed in the fetal and adult adrenal cortex and has been
implicated in steroidogenesis. To characterize the role of transcription factor GATA6 in …

Management of endocrine disease: diagnostic and therapeutic approach of tall stature

EVA Albuquerque, RC Scalco… - European Journal of …, 2017 - academic.oup.com
Tall stature is defined as a height of more than 2 standard deviations (sd) above average for
same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal …

Fetal growth patterns in Beckwith–Wiedemann syndrome

A Mussa, S Russo, A De Crescenzo, A Freschi… - Clinical …, 2016 - Wiley Online Library
We provide data on fetal growth pattern on the molecular subtypes of Beckwith–Wiedemann
syndrome (BWS): IC1 gain of methylation (IC1‐GoM), IC2 loss of methylation (IC2‐LoM) …

Isolated‐and Beckwith‐Wiedemann syndrome related‐lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

JA Radley, M Connolly, A Sabir, F Kanani… - Clinical …, 2021 - Wiley Online Library
The congenital imprinting disorder, Beckwith‐Wiedemann syndrome (BWS) is associated
with variable clinical features including hemihypertrophy/lateralised overgrowth (LO) and …

Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies

CB Hertenstein, KA Miller, JA Estroff… - Prenatal …, 2024 - Wiley Online Library
Isolated bilateral hyperechoic kidneys (HEK) on prenatal ultrasound presents diagnostic,
prognostic, and counseling challenges. Prognosis ranges from normal outcome to lethal …

Investigation of 11p15. 5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients

B Tüysüz, S Bozlak, D Uludağ Alkaya, S Ocak, B Kasap… - Cancers, 2023 - mdpi.com
Simple Summary Lateralized overgrowth may be isolated or accompany syndromes.
Recently, international BWS consensus proposed that the patients with isolated lateralized …

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

M Gogiel, M Begemann, S Spengler… - European Journal of …, 2013 - nature.com
Uniparental disomy (UPD) of single chromosomes is a well-known molecular aberration in a
group of congenital diseases commonly known as imprinting disorders (IDs). Whereas …

The placenta in Beckwith–Wiedemann syndrome: genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia

JE Armes, I McGown, M Williams… - Pathology-Journal of …, 2012 - journals.lww.com
Aims: Placental mesenchymal dysplasia (PMD) is a rare condition which is associated with
the disparate fetal outcomes of Beckwith–Wiedemann syndrome (BWS), fetal growth …

Neonatal Cushing syndrome: a rare but potentially devastating disease

C Tatsi, CA Stratakis - Clinics in perinatology, 2018 - perinatology.theclinics.com
Neonatal Cushing Syndrome - Clinics in Perinatology Skip to Main Content Clinics in
Perinatology Log in Register Log in Subscribe Claim Skip menu theclinics.com theclinics.com …

Hepatobiliary MRI contrast agents: pattern recognition approach to pediatric focal hepatic lesions

GR Schooler, NC Hull, EY Lee - American Journal of …, 2020 - Am Roentgen Ray Soc
OBJECTIVE. The purposes of this article are to review currently available hepatobiliary
contrast agents, discuss techniques for optimization of pediatric liver MRI with hepatobiliary …